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Relevance to Autism

Studies have found genetic association and rare variations in the UBE3A gene that are associated with autism. Association was found in families of the Collaborative Linkage Study of Autism (Nurmi et al., 2001), and rare variants were found in cases of European ancestry.

Molecular Function

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.
ASD
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Angelman syndrome
DD, epilepsy/seizures
Support
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression
ASD
Developmental regression, ID, epilepsy/seizures
Support
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Angelman syndrome
ID
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID
Support
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
ASD
Support
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
DD, learning disabilities
Neuropsychiatric phenotypes (anxiety, depression)
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
DD, ID, epilepsy/seizures
ADHD
Support
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population
DD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Support
Expanding the genetic heterogeneity of intellectual disability.
ID, microcephaly, epilepsy/seizures
Support
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
DD, ID
Epilepsy/seizures
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/-catenin pathway by inhibiting the proteasome.
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Epilepsy
ID, ASD, DD
Support
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Epilepsy/seizures
Angelman syndrome
Support
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome
DD, ID
Epilepsy/seizures
Support
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Non-syndromic ASD
Highly Cited
UBE3A/E6-AP mutations cause Angelman syndrome.
Recent Recommendation
A coding-independent function of an alternative Ube3a transcript during neuronal development.
Recent Recommendation
Imprinting in neurons.
Recent Recommendation
Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc.
Recent Recommendation
E6AP/UBE3A ubiquitin ligase harbors two E2~ubiquitin binding sites.
Recent Recommendation
Impairment of TrkB-PSD-95 signaling in Angelman syndrome.
Recent Recommendation
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila.
Recent Recommendation
Ube3a is required for experience-dependent maturation of the neocortex.
Recent Recommendation
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Recent Recommendation
Gene symbol: UBE3A. Disease: Angelman syndrome.
Recent Recommendation
UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis.
Recent Recommendation
Ube3a expression is not altered in Mecp2 mutant mice.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN262R001 
 missense_variant 
 c.601G>A 
 p.Ala201Thr 
 Familial (5 cases), Unknown (5 cases) 
 Maternal (3 cases); paternal (2 cases) 
 Simplex 
 GEN262R002 
 missense_variant 
 c.520A>G 
 p.Thr174Ala 
 Unknown 
  
 Simplex 
 GEN262R003 
 inframe_deletion 
 c.573_581del 
 p.Asp191_Lys193del 
 Familial 
 Paternal 
 Simplex 
 GEN262R004 
 missense_variant 
 c.333C>G 
 p.Asn111Lys 
  
  
 Multiplex 
 GEN262R005 
 synonymous_variant 
 c.1269C>T 
 p.(=) 
  
  
 Multiplex 
 GEN262R006 
 missense_variant 
 c.1585C>T 
 p.Arg529Cys 
 Familial 
 Maternal 
 Multiplex 
 GEN262R007 
 missense_variant 
 c.2110C>G 
 p.Pro704Ala 
 Unknown 
  
  
 GEN262R008 
 frameshift_variant 
 c.1798del 
 p.Trp600GlyfsTer15 
 Familial 
 Maternal 
 Multiplex 
 GEN262R009 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN262R010 
 missense_variant 
 c.1453A>G 
 p.Thr485Ala 
 De novo 
 NA 
 Simplex 
 GEN262R011 
 missense_variant 
 c.2609G>A 
 p.Gly870Asp 
 De novo 
 NA 
 Multiplex 
 GEN262R012 
 frameshift_variant 
 c.2572_2573insCTTA 
 p.Leu858ProfsTer3 
 De novo 
 NA 
  
 GEN262R013 
 missense_variant 
 c.408T>C 
 p.Ile136= 
 De novo 
 NA 
  
 GEN262R014 
 frameshift_variant 
 c.312_315del 
 p.Asn105ThrfsTer6 
 De novo 
 NA 
  
 GEN262R015 
 frameshift_variant 
 c.-284del 
  
  
  
 Multiplex 
 GEN262R016 
 frameshift_variant 
 c.1978_1979insCAGAGTTTAAAAG 
 p.Gln660ProfsTer14 
 De novo 
 NA 
  
 GEN262R017 
 missense_variant 
 c.2281G>A 
 p.Gly761Arg 
 De novo 
 NA 
  
 GEN262R018 
 frameshift_variant 
 c.2576_2579del 
 p.Lys859ArgfsTer4 
 De novo 
 NA 
  
 GEN262R019 
 stop_gained 
 c.1437C>A 
 p.Tyr479Ter 
 De novo 
 NA 
  
 GEN262R020 
 missense_variant 
 c.2439C>G 
 p.Asp813Glu 
 Unknown 
  
 Unknown 
 GEN262R021 
 inframe_deletion 
 c.1018_1020del 
 p.Phe340del 
 Familial 
 Maternal 
 Extended multiplex 
 GEN262R022 
 missense_variant 
 ENSG00000114062:ENST00000397954:exon10:c.C2429T:p.T810M,ENSG00000114062:ENST00000428984:exon11:c.C23 
  
 De novo 
 NA 
  
 GEN262R023 
 frameshift_variant 
 c.386_390del 
 p.Thr129ArgfsTer5 
 De novo 
 NA 
 Simplex 
 GEN262R024 
 stop_gained 
 c.2410C>T 
 p.Gln804Ter 
 De novo 
 NA 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN262C001 
 microsatellite 
  
  
  
 CLSA 
 Discovery 
 GEN262C002 
 copy_number_gain 
  
  
  
 European, AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 3
 
15
Duplication
 7
 
15
Duplication
 2
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Deletion-Duplication
 98
 
15
Duplication
 7
 
15
Duplication
 66
  construct
15
Duplication
 5
 
15
Duplication
 14
 
15
Duplication
 3
 

Model Summary

Dube3a null mutants display abnormal locomotive behavior and circadian rhythms, and defective long-term memory. Flies that overexpress Ube3a in the nervous system also display locomotion defects, dependent on the ubiquitin ligase activity. Missense mutations in UBE3A alleles of Angelman syndrome patients alter amino acid residues conserved in the fly protein, and when introduced into dube3a, behave as loss-of-function mutations. Loss of function of Ube3a leads to climbing defects and overexpression causes changes in synaptic transmission in the neuromuscular junction. Ube3a mutants also show reduced gene and protein expression of Ube3a, an effect more pronounced in mutants with paternally inherited null mutation. Knockout and knockdown mutants show learning deficits which can be rescued by reexpression of genomic or human variant of Ube3a. The learning deficits are not due to locomotor activity ot taste sensitivity impairments as those are not affected in mutants.

References

Type
Title
Author, Year
Primary
A Drosophila model for Angelman syndrome.
Primary
The E3 ligase ube3a is required for learning in Drosophila melanogaster.
Primary
Variation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction.
Primary
Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes.

F_UBE3A_10_CKI_HM_GMR-GAL4:UAS-UBE3A^C941A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies overexpressing the dube3a^C941A UAS transgene with the eye-specific Gal4 driver, GMR-gal4.
Allele Type: Loss-of-function
Strain of Origin: w; dube3a^C941A
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_11_CKI_HM_GMR-GAL4:UAS-DUBE3A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies overexpressing the wildtype dube3a UAS transgene with the eye-specific Gal4 driver, GMR-gal4.
Allele Type: LOF Knockin
Strain of Origin: w; dube3a^15B
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_12_CKI_HM_ELAV-GAL4:UAS-UBE3A^C941A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies that overexpress dube3a^C941A in the developing and adult nervous system were generated using the Gal4/UAS system and the pan-neural driver elav-gal4.
Allele Type: LOF Knockin
Strain of Origin: w; dube3a^C941A
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_13_CKI_HM_MS1096-GAL4:UAS-DUBE3A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies that overexpress dube3a in the wing were generated using the Gal4/UAS system and the wing driver MS1096-gal4.
Allele Type: Overexpression
Strain of Origin: dube3a
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_14_CKI_HM_MS1096-GAL4:UAS-DUBE3A^C941A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies that overexpress dube3a^C941A in the wing were generated using the Gal4/UAS system and the wing driver MS1096-gal4.
Allele Type: Overexpression
Strain of Origin: w; dube3a^C941A
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_16_KI_HM_TUB4-GAL4:UAS-UBE3A^C941A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies that ubiquitously overexpress dube3a^C941A using the Gal4/UAS system and the ubiquitous driver tubulin4-gal4.
Allele Type: Overexpression
Strain of Origin: w; dube3a^C941A
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_17_CKI_HM_GMR-GAL4:UAS-UBE3A^C55Y

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (C55Y) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the eye using the GMR-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^C55Y
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_18_CKI_HM_GMR-GAL4:UAS-UBE3A^T447P

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (T447P) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the eye using the GMR-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^T447P
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_19_CKI_HM_GMR-GAL4:UAS-UBE3A^R626C

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (R626) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the eye using the GMR-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^R626C
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_1_KO_HM_UBE3A^80

Model Type: Genetic
Model Genotype: Homozygous
Mutation: dube3a^80 mutant line was generated by modifying another dube3A mutant line carrying a transposable P element inserted in the 5'UTR of the dube3A gene, by immobilizing the P element to generate an imprecise excision or deletion allele. The transcription start site is within the deletion in dube3a^80, yielding no dube3a80 transcripts. dube3a^6PE is a precise excision (WT) allele that is isogenic with dube3a^15B for the two major autosomes and was used as control. .
Allele Type: Knockout
Strain of Origin: w; dube3a^80
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_20_CKI_HM_GMR-GAL4:UAS-UBE3A^I925K

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (I925K) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the eye using the GMR-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^I925K
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_21_CKI_HM_MS1096-GAL4:UAS-UBE3A^C55Y

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (C55Y) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the wing using the MS1096--GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^C55Y
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_22_CKI_HM_MS1096-GAL4:UAS-UBE3A^T447P

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (T447P) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the wing using the MS1096--GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^T447P
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_23_CKI_HM_MS1096-GAL4:UAS-UBE3A^R626C

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (R626) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the wing using the MS1096--GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^R626C
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_24_CKI_HM_MS1096-GAL4:UAS-UBE3A^I925K

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (I925K) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients selectively overexpressed in the wing using the MS1096--GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^I925K
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_25_CKI_HM_TUB4-GAL4:UAS-UBE3A^C55Y

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (C55Y) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients ubiquitously overexpressed in the fly using the tubulin4-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^C55Y
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_26_CKI_HM_TUB4-GAL4:UAS-UBE3A^T447P

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (T447P) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients ubiquitously overexpressed in the fly using the tubulin4-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^T447P
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_27_CKI_HM_TUB4-GAL4:UAS-UBE3A^R626C

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (R626) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients ubiquitously overexpressed in the fly using the tubulin4-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^R626C
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_28_CKI_HM_TUB4-GAL4:UAS-UBE3A^I925K

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with a missense mutation of human UBE3A (I925K) introduced into the fly 3mdube3a gene that results in loss of function and has been identified in Angelman syndrome patients ubiquitously overexpressed in the fly using the tubulin4-GAL4 driver.
Allele Type: LOF Knockin
Strain of Origin: w; UASt-3myc dube3a^I925K
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_2_KO_HM_UBE3A^6J

Model Type: Genetic
Model Genotype: Homozygous
Mutation: dube3a^6J mutant line was generated by modifying another dube3A mutant line carrying a transposable P element inserted in the 5'UTR of the dube3A gene, by immobilizing the P element to generate an imprecise excision or deletion allele. The mutant allele retains the transcription start site and yields transcripts containing exons downstream of the deletion. dube3a^6PE is a precise excision (WT) allele that is isogenic with dube3a^15B for the two major autosomes and was used as control. .
Allele Type: Knockout
Strain of Origin: w; dube3a^6J
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_38_CKI_HM_GMR-GAL4:UAS-UBE3A^C941A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies overexpressing the dube3a^C941A UAS transgene with the eye-specific Gal4 driver, GMR-gal4.
Allele Type: LOF Knockin
Strain of Origin: w; dube3a^C941A
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_3_KO_HM_UBE3A^15B

Model Type: Genetic
Model Genotype: Homozygous
Mutation: dube3a^15B null mutant line was generated by modifying another dube3A mutant line carrying a transposable P element inserted in the 5'UTR of the dube3A gene, by immobilizing the P element to generate an imprecise excision or deletion allele. The mutant allele retains the transcription start site and yields transcripts containing exons downstream of the deletion. dube3a^6PE is a precise excision (WT) allele that is isogenic with dube3a^15B for the two major autosomes and was used as control. .
Allele Type: Knockout
Strain of Origin: w; dube3a^15B
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_4_CKI_HM_ELAV-GAL4:UAS-DUBE3A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies that overexpress dube3a in the developing and adult nervous system were generated using the Gal4/UAS system and the pan-neural driver elav-gal4.
Allele Type: Overexpression
Strain of Origin: dube3a
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_5_KO_HT_UBE3A^80/DF(3L)VIN5

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Transheterozygotes of dube3a^80 and Df(3L)vin5, a chromosome that carries a deletion of several genes including dube3a. .
Allele Type: Knockout
Strain of Origin: w; dube3a^80
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_6_KO_HT_UBE3A^6J/DF(3L)VIN5

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Transheterozygotes of dube3a^6J and Df(3L)vin5, a chromosome that carries a deletion of several genes including dube3a. .
Allele Type: Knockout
Strain of Origin: w; dube3a^6J
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_7_KO_HT_UBE3A^15B/DF(3L)VIN5

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Transheterozygotes of dube3a^15B and Df(3L)vin5, a chromosome that carries a deletion of several genes including dube3a. .
Allele Type: Knockout
Strain of Origin: w; dube3a^15B
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_8_KO_HT_UBE3A^6PE/DF(3L)VIN5

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Transheterozygotes of dube3a^6PE and Df(3L)vin5, a chromosome that carries a deletion of several genes including dube3a. .
Allele Type: Knockout
Strain of Origin: w; dube3a^6PE
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_9_KI_HM_TUB4-GAL4:UAS-DUBE3A

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies that ubiquitously overexpress dube3a using the Gal4/UAS system and the ubiquitous driver tubulin4-gal4.
Allele Type: Overexpression
Strain of Origin: dube3a
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_29_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Mutant Ube3a allele, with a P transposable element, inherited maternally.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_30_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Mutant Ube3a allele, with a P transposable element, inherited paternally.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_31_KI_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Duplication mutation inherited maternally.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_32_KI_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Duplication mutation inherited paternally.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_33_KI_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homozygous duplication mutation.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_34_CKD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: ElavGal4 driven expression of UASdube3aRNAi (w^1118; P{GD450}v45876) in neurons in a wildtype background.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source: VDRC 45876

F_UBE3A_35_CKD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: ElavGal4 driven expression of UASdube3aRNAi (w^1118; P{GD450}v45875) in neurons in a wildtype background.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source: VDRC 45875

F_UBE3A_36_CKI_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: ElavGal4 driven overexpression of UASdube3a in wild-type background.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_37_CKI_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: ElavGal4 driven overexpression of human Ube3a isoform 1 (2558bp) in wild-type background.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_38_CKI_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: ElavGal4 driven overexpression of UASdube3aC941A in wild-type background.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_39_KD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: 201YGal4 driven expression of UASdube3aRNAi's (w^1118; P{GD450}v45876 and w^1118; P{GD450}v45875) in in maternally-inherited null mutation background.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_40_KD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: OK107Gal4 driven expression of UASdube3aRNAi's (w^1118; P{GD450}v45876 and w^1118; P{GD450}v45875) in in maternally-inherited null mutation background.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_41_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mutant Ube3a allele, with a P transposable element, inherited maternally.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_42_CKD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional silencing using temperature-sensitive tubulin-Gal80 from egg to 3 days of age.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_43_CKD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional silencing using temperature-sensitive tubulin-Gal80 from eclosion to 3 days of age.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_44_CKD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional silencing using temperature-sensitive tubulin-Gal80 from egg to eclosion.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_24B-GAL4>UAS-DUBE3ARNAI

Model Type: Genetic
Model Genotype: Wild type
Mutation: Knockdown of Dube3a using dsRNAi in the embryonic and larval somatic muscle using the 24B-Gal4 driver.
Allele Type: Knockdown
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_C155-GAL4>UAS-DUBE3ARNAI

Model Type: Genetic
Model Genotype: Wild type
Mutation: Knockdown of Dube3a using dsRNAi in muscle or neurons using the pan neuronal driver c155-Gal4.
Allele Type: Knockdown
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_C155>DUBE3A-27

Model Type: Genetic
Model Genotype: Transgenic
Mutation: Fruitfly Dube3a (Ube3a)line that produces the highest Dube3a protein levels (compared to line 51 and 45) under the pan neuronal C155-Gal4 driver. Authors note that this transgene manifests a rough eye with the eye specific gmr-Gal4 driver.
Allele Type: Overexpression
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_C155>DUBE3A-45

Model Type: Genetic
Model Genotype: Transgenic
Mutation: Fruitfly Dube3a (Ube3a)line that produces a moderate increase in Dube3a protein levels under the C155-Gal4 pan neuronal driver (authors note that this transgene manifests a mildly rough eye with the eye specific gmr-Gal4 driver).
Allele Type: Overexpression
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_C155>DUBE3A-51

Model Type: Genetic
Model Genotype: Transgenic
Mutation: Fruitfly Dube3a (Ube3a)line that produces a moderate increase in Dube3a protein levels under the C155-Gal4 pan neuronal driver (authors note that this transgene manifests a mildly rough eye with the eye specific gmr-Gal4 driver).
Allele Type: Overexpression
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_C179-GAL4> UAS-DUBE3ARNAI

Model Type: Genetic
Model Genotype: Wild type
Mutation: Knockdown of Dube3a using dsRNAi in embryonic mesoderm, larval muscles and wing imaginal discs using c179-Gal4 driver.
Allele Type: Knockdown
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_DUBE3A^15B

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Dube3a^15b a loss of function mutation resulting in no Dube3a protein.
Allele Type: Knockout
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_MEF2-GAL4>UAS-DUBE3ARNAI

Model Type: Genetic
Model Genotype: Wild type
Mutation: Knockdown of Dube3a usind dsRNAi in the somatic muscle and imaginal wing discs using the mef2-Gal4 driver.
Allele Type: Knockdown
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_UBE3A_1_KO_HM_EP3214

Model Type: Genetic
Model Genotype: Homozygous
Mutation: .
Allele Type: Knockout
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source: Bloomington Drosophila Stock Center

F_UBE3A_2_CKD_HM_NEURONS

Model Type: Genetic
Model Genotype: Homozygous
Mutation: .
Allele Type: Knockdown
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source: Bloomington Drosophila Stock Center

F_UBE3A_3_CKD_HM_MUSHROOMBODY

Model Type: Genetic
Model Genotype: Homozygous
Mutation: .
Allele Type: Knockdown
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source: Ronald L. Davis (The Scripps Research Institute, Jupiter, FL)

F_UBE3A_10_CKI_HM_GMR-GAL4:UAS-UBE3A^C941A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Eye development:compound eye morphogenesis1
 No change
 General observations
 adult stage
Targeted expression1
 No change
 Western blot
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_11_CKI_HM_GMR-GAL4:UAS-DUBE3A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_12_CKI_HM_ELAV-GAL4:UAS-UBE3A^C941A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Climbing1
 No change
 Climbing assay
 1-2 days, 6-7 days, 11-12 days
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_13_CKI_HM_MS1096-GAL4:UAS-DUBE3A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Appendage development: wing vein development1
Abnormal
Description: Mutants showed curly wing tissue compared to controls.
 General observations
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_14_CKI_HM_MS1096-GAL4:UAS-DUBE3A^C941A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Appendage development: wing vein development1
 No change
 General observations
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_16_KI_HM_TUB4-GAL4:UAS-UBE3A^C941A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_17_CKI_HM_GMR-GAL4:UAS-UBE3A^C55Y

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Decreased
Description: Mutant fly eyes show decreased accumulation of mutant protein compared to control flies.
 Western blot
 adult stage
Eye development:compound eye morphogenesis1
 No change
 General observations
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_18_CKI_HM_GMR-GAL4:UAS-UBE3A^T447P

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Abnormal
Description: Mutant fly eyes show variable accumulation of mutant protein compared to controls. One of six line shows no change in mutant protein accumulation compared to controls.
 Western blot
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_19_CKI_HM_GMR-GAL4:UAS-UBE3A^R626C

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Eye development:compound eye morphogenesis1
 No change
 General observations
 adult stage
Targeted expression1
 No change
 Western blot
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_1_KO_HM_UBE3A^80

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Decreased
Description: Mutants produced no protein.
 Western blot
 third instar larval stage
Mortality/lethality1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_20_CKI_HM_GMR-GAL4:UAS-UBE3A^I925K

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Eye development:compound eye morphogenesis1
 No change
 General observations
 adult stage
Targeted expression1
 No change
 Western blot
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_21_CKI_HM_MS1096-GAL4:UAS-UBE3A^C55Y

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Appendage development: wing vein development1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_22_CKI_HM_MS1096-GAL4:UAS-UBE3A^T447P

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Appendage development: wing vein development1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_23_CKI_HM_MS1096-GAL4:UAS-UBE3A^R626C

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Appendage development: wing vein development1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_24_CKI_HM_MS1096-GAL4:UAS-UBE3A^I925K

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Appendage development: wing vein development1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_25_CKI_HM_TUB4-GAL4:UAS-UBE3A^C55Y

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 General observations
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_26_CKI_HM_TUB4-GAL4:UAS-UBE3A^T447P

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Mutant flies showed some increase in lethality compared to controls. Four out of six lines showed no difference in lethality, however two lines showed an increased in lethality compared to controls.
 General observations
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_27_CKI_HM_TUB4-GAL4:UAS-UBE3A^R626C

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 General observations
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_28_CKI_HM_TUB4-GAL4:UAS-UBE3A^I925K

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 General observations
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_2_KO_HM_UBE3A^6J

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Decreased
Description: Mutants produced no protein.
 Western blot
 third instar larval stage
Mortality/lethality1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_38_CKI_HM_GMR-GAL4:UAS-UBE3A^C941A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Eye development:compound eye morphogenesis1
 No change
 General observations
 adult stage
Targeted expression1
 No change
 Western blot
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_3_KO_HM_UBE3A^15B

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Locomotor activity in diurnal cycle: dark phase1
Decreased
Description: Older male mutant flies showed weaker circadian rhythm strength compared to controls.
Exp Paradigm: The relative power of rhythmicity was indicated as a Fast Fourier Transformation (FFT) value. Flies were entrained to a 12 h:12 h, light:dark cycle for 3 days.
 Beam crossing
 18-21
Locomotor activity in diurnal cycle: dark phase1
Decreased
Description: Older female mutant flies showed weaker circadian rhythm strength compared to controls.
Exp Paradigm: The relative power of rhythmicity was indicated as a Fast Fourier Transformation (FFT) value. Flies were entrained to a 12 h:12 h, light:dark cycle for 3 days.
 Beam crossing
 18-21
Locomotor activity in diurnal cycle: dark phase1
Decreased
Description: Young male mutant flies showed weaker circadian rhythm strength compared to controls.
Exp Paradigm: The relative power of rhythmicity was indicated as a Fast Fourier Transformation (FFT) value. Flies were entrained to a 12 h:12 h, light:dark cycle for 3 days.
 Beam crossing
 4-7 days
Climbing1
Decreased
Description: Ube3a mutant flies performed markedly more poorly in climbing assays compared to controls.
 Climbing assay
 3-4 days, 8-9 days
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Mutant flies showed deficits in avoiding an odor associated to footshock in spaced training paradigm but not in mass training paradigm compared to controls.
Exp Paradigm: Spaced training: 10 training sessions (12 trials per session) are separated by 15-min rest intervals. Flies were trained to associate an odor with a shock and were then tested for avoidance of the odor.
 Active avoidance test
 adult stage
Targeted expression1
Decreased
Description: Mutants produced no protein.
 Western blot
 third instar larval stage
Locomotor activity in diurnal cycle: dark phase1
 No change
 Beam crossing
 4-7 days
Mortality/lethality1
 No change
 Survival analysis
 adult stage
Cued or contextual fear conditioning: memory of cue1
 No change
 Active avoidance test
 adult stage
Olfactory learning and memory1
 No change
 Operant conditioning paradigm
 adult stage
General locomotor activity1
 No change
 Flight performance test
 3-4 days;8-9 days
Olfaction1
 No change
 Response to olfactory stimuli
 adult stage
Pain or nociception1
 No change
 Foot shock test
 adult stage
 Not Reported: Communications, Emotion, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

F_UBE3A_4_CKI_HM_ELAV-GAL4:UAS-DUBE3A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Climbing1
Decreased
Description: Mutant flies showed impaired motor coordination compared to controls.
 Climbing assay
 1-2 days, 6-7 days, 11-12 days
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_5_KO_HT_UBE3A^80/DF(3L)VIN5

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_6_KO_HT_UBE3A^6J/DF(3L)VIN5

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_7_KO_HT_UBE3A^15B/DF(3L)VIN5

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_8_KO_HT_UBE3A^6PE/DF(3L)VIN5

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 Survival analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_9_KI_HM_TUB4-GAL4:UAS-DUBE3A

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Mutant flies showed increased lethality compared to controls.
 Survival analysis
 unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_29_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Gene expression1
Decreased
Description: Ube3a mutants showed a decrease in pst expression compared to controls.
 Quantitative pcr (qrt-pcr)
 2-3 days
Gene expression1
Decreased
Description: Ube3a mutants showed a decrease in drl expression compared to controls.
 Quantitative pcr (qrt-pcr)
 2-3 days
Gene expression1
Increased
Description: Ube3a mutants showed an increase in amn expression compared to controls.
 Quantitative pcr (qrt-pcr)
 2-3 days
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 2-3 days
Targeted expression1
 No change
 Quantitative pcr (qrt-pcr)
 2-3 days
General locomotor activity1
 No change
 Climbing assay
 2-3 days
Mushroom body development: mushroom body size1
 No change
 Immunostaining
 2-3 days
Taste1
 No change
 Quinine sensitivity assay
 2-3 days
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

F_UBE3A_30_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Decreased
Description: Ube3a mutants showed a decrease in gene expression compared to controls.
 Quantitative pcr (qrt-pcr)
 2-3 days
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_31_KI_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Decreased
Description: Ube3a mutants showed a decrease in gene expression compared to controls.
 Quantitative pcr (qrt-pcr)
 2-3 days
Conditioned taste aversion: phototaxis suppression1
 No change
 Conditioned taste aversion test
 2-3 days
General locomotor activity1
 No change
 Climbing assay
 2-3 days
Taste1
 No change
 Quinine sensitivity assay
 2-3 days
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

F_UBE3A_32_KI_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Decreased
Description: Ube3a mutants showed a decrease in gene expression compared to controls.
 Quantitative pcr (qrt-pcr)
 2-3 days
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_33_KI_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_34_CKD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_35_CKD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_36_CKI_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_37_CKI_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_38_CKI_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_39_KD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_40_KD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_41_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mushroom body development: mushroom body size1
Decreased
Description: Ube3a mutants showed severe mushroom body defects compared to controls.
 Immunostaining
 2-3 days
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_42_CKD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_43_CKD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_44_CKD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_24B-GAL4>UAS-DUBE3ARNAI

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Membrane potential1
 No change
 Whole-cell current clamp
 3rd instar larvae
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_C155-GAL4>UAS-DUBE3ARNAI

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Membrane potential1
 No change
 Whole-cell current clamp
 3rd instar larvae
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_C155>DUBE3A-27

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Spontaneous post synaptic event amplitude: miniature excitatory end-junction potential(mejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
Spontaneous post synaptic event frequency: miniature excitatory end-junction potential(mejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
Synapse density: mature boutons1
 No change
 Immunohistochemistry
 3rd instar larvae
Synaptic morphology: active zone1
 No change
 Transmission electron microscopy (tem)
 3rd instar larvae
Membrane potential1
 No change
 Whole-cell current clamp
 3rd instar larvae
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_C155>DUBE3A-45

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
Decreased
Description: Overexpression of Dube3a causes decreased EJP as in several transgenic larvae it could not be evoked at intermittent time points
 Whole-cell current clamp
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_C155>DUBE3A-51

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
Decreased
Description: Overexpression of Dube3a causes decreased EJP as in several transgenic larvae it could not be evoked at intermittent time points
Exp Paradigm: Rapid Stimulation Assay
 Whole-cell current clamp
 3rd instar larvae
Spontaneous post synaptic event amplitude: miniature excitatory end-junction potential(mejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
Spontaneous post synaptic event frequency: miniature excitatory end-junction potential(mejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
Synapse density: mature boutons1
 No change
 Immunohistochemistry
 3rd instar larvae
Synaptic morphology: active zone1
 No change
 Transmission electron microscopy (tem)
 3rd instar larvae
Membrane potential1
 No change
 Whole-cell current clamp
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_C179-GAL4> UAS-DUBE3ARNAI

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Membrane potential1
 No change
 Whole-cell current clamp
 3rd instar larvae
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_DUBE3A^15B

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
Decreased
Description: Amplitude of EJPs evoked following rapid stimulation decreases in Dube3a deficient larvae compared to WT in rapid stimulation assays
Exp Paradigm: Rapid Stimulation Assay
 Whole-cell current clamp
 3rd instar larvae
Membrane potential1
Decreased
Description: Resting membrane potential of Dube3a 15b (Dube3a deficient) muscle cells is significantly more negative compared to w118 indicating hyperpolarization of membrane
 Whole-cell current clamp
 3rd instar larvae
Synapse density: mature boutons1
 No change
 Immunohistochemistry
 3rd instar larvae
Synaptic morphology: active zone1
 No change
 Transmission electron microscopy (tem)
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_MEF2-GAL4>UAS-DUBE3ARNAI

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Membrane potential1
 No change
 Whole-cell current clamp
 3rd instar larvae
Synaptic transmission: neuromuscular junction:evoked junction potential (ejp)1
 No change
 Whole-cell current clamp
 3rd instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_1_KO_HM_EP3214

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cued or contextual fear conditioning: memory of cue: long term recall1
Increased
Description: Ube3a mutants showed an enhanced old memory compared to controls.
 Olfactory classical conditioning
 Adult stage
Cognitive flexibility: associative learning1
Decreased
Description: Ube3a mutants showed a severe decrease in olfactory reversal learning compared to controls.
 Reversal learning of olfactory classical conditioning
 Adult stage
Gene expression1
Decreased
Description: Ube3a mutants showed a significantly reduced expression of Rac1 following reversal-learning task compared to controls.
 Western blot
 Adult stage
Olfactory learning and memory1
 No change
 Olfactory classical conditioning
 Adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_2_CKD_HM_NEURONS

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Olfactory learning and memory1
Increased
Description: Ube3a mutants showed an increase in olfactory associative aversive learning compared to controls.
 Olfactory classical conditioning
 Adult stage
Cognitive flexibility: associative learning1
Decreased
Description: Ube3a mutants showed a severe decrease in olfactory reversal learning compared to controls.
 Reversal learning of olfactory classical conditioning
 Adult stage
Olfactory learning and memory1
 No change
 Olfactory classical conditioning
 Adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_UBE3A_3_CKD_HM_MUSHROOMBODY

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cued or contextual fear conditioning: memory of cue: long term recall1
Increased
Description: Ube3a mutants showed an increase in olfactory associative aversive learning compared to controls.
 Olfactory classical conditioning
 Adult stage
Cognitive flexibility: associative learning1
Decreased
Description: Ube3a mutants showed a decrease in olfactory reversal learning compared to controls.
 Reversal learning of olfactory classical conditioning
 Adult stage
Olfactory learning and memory1
 No change
 Olfactory classical conditioning
 Adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 172 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
AHSP alpha hemoglobin stabilizing protein 51327 Q549J4 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ANKZF1 ankyrin repeat and zinc finger domain containing 1 55139 Q9H8Y5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ANXA1 annexin A1 301 P04083 GST; MS; IP/WB
Shimoji T , et al. 2009
AR androgen receptor 367 P10275 Luciferase reporter assay
Nawaz Z , et al. 1999
ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 55616 Q8TDY4 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ATG9A autophagy related 9A 79065 Q7Z3C6 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BCKDK branched chain ketoacid dehydrogenase kinase 10295 A8MY43 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
BMAL1 Aryl hydrocarbon receptor nuclear translocator-like protein 1 406 O00327 Fluorescence Polarization (FP)
Gossan NC , et al. 2014
BMPR1A bone morphogenetic protein receptor, type IA 657 P36894 IP/WB; In vivo ubiquitination assay
Li W , et al. 2016
BOLA2 bolA homolog 2 (E. coli) 552900 Q9H3K6 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
BPY2 basic charge, Y-linked, 2 9083 O14599 Y2H; IP/WB
Wong EY , et al. 2002
CALM1 calmodulin 1 (phosphorylase kinase, delta) 801 P62158 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CAPN3 calpain 3, (p94) 825 P20807 Y2H
Sakai Y , et al. 2011
CELA2B Chymotrypsin-like elastase family member 2B 51032 P08218 IP; LC-MS/MS
Huttlin EL , et al. 2015
CENPF centromere protein F, 350/400kDa (mitosin) 1063 P49454 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CEP170 centrosomal protein 170kDa 9859 Q5SW79 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CEP97 centrosomal protein 97kDa 79598 Q8IW35 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
COPS7B COP9 signalosome subunit 7B 64708 Q9H9Q2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CP110 centriolar coiled coil protein 110kDa 9738 B4DTZ1 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
DERA deoxyribose-phosphate aldolase (putative) 51071 Q9Y315 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
DLG1 discs, large homolog 1 (Drosophila) 1739 Q12959 in vitro ubiquitination assay; WB; GST
Matsumoto Y , et al. 2006
EAPP E2F-associated phosphoprotein 55837 Q56P03 Y2H
Lim J , et al. 2006
ECH1 enoyl CoA hydratase 1, peroxisomal 1891 Q13011 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ECI2 enoyl-CoA delta isomerase 2 10455 O75521 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ECT2 epithelial cell transforming sequence 2 oncogene 1894 Q9H8V3 IP/WB
Reiter LT , et al. 2006
EIF3C eukaryotic translation initiation factor 3, subunit C 8663 Q99613 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
EIF3D eukaryotic translation initiation factor 3, subunit D 8664 O15371 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
EIF3E eukaryotic translation initiation factor 3, subunit E 3646 P60228 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
EML1 echinoderm microtubule associated protein like 1 2009 O00423 Y2H
Sakai Y , et al. 2011
ERCC6L2 excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 375748 Q5T890 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ESR1 estrogen receptor 1 2099 P03372 IP/WB; WB
Li L , et al. 2005
FAM167A family with sequence similarity 167, member A 83648 Q96KS9 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FTH1 ferritin, heavy polypeptide 1 2495 P02794 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
FUZ fuzzy planar cell polarity protein 80199 Q9BT04 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa 2965 P32780 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 8924 A8KAQ8 IP; MS; COMPASS; IP/WB
Martnez-Nol G , et al. 2012
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 55662 Q9NWT6 IP; MS; COMPASS; IP/WB
Martnez-Nol G , et al. 2012
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 55662 Q9NWT6 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST1H2AB histone cluster 1, H2ab 8335 P04908 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HIST1H2BK histone cluster 1, H2bk 85236 O60814 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HIST1H4A histone cluster 1, H4a 8359 B2R4R0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HTRA1 HtrA serine peptidase 1 5654 Q92743 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
Kcnn2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 140492 P58390 IP/WB; in vitro ubiquitination assay; Co-localization
Sun J , et al. 2015
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 10945 P24390 IP; LC-MS/MS
Huttlin EL , et al. 2015
KDM2A lysine (K)-specific demethylase 2A 22992 D4QA03 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
KLHL38 kelch-like family member 38 340359 Q2WGJ6 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
KTN1 kinectin 1 (kinesin receptor) 3895 Q5GGW3 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
LAMC1 laminin, gamma 1 (formerly LAMB2) 3915 P11047 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
LCK lymphocyte-specific protein tyrosine kinase 3932 P06239 Y2H; GST
Oda H , et al. 1999
MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 4100 P43355 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAGEA8 melanoma antigen family A8 4107 B2R9W4 Y2H
Corominas R , et al. 2014
MAP7D1 MAP7 domain containing 1 55700 Q3KQU3 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MAP7D2 MAP7 domain containing 2 256714 Q96T17 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAP9 microtubule-associated protein 9 79884 Q05CN5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MAPK10 mitogen-activated protein kinase 10 5602 P53779 Y2H
Sakai Y , et al. 2011
MAPK6 mitogen-activated protein kinase 6 5597 Q16659 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 8550 Q8IW41 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MCM6 minichromosome maintenance complex component 6 4175 Q14566 Y2H; GST
Sakai Y , et al. 2011
MCM7 minichromosome maintenance complex component 7 4176 P33993 GST; IP/WB; WB
Khne C and Banks L 1998
MEOX2 Homeobox protein MOX-2 4223 P50222 Y2H
Corominas R , et al. 2014
MID1IP1 MID1 interacting protein 1 58526 Q9NPA3 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
miR-134 microRNA 134 406924 N/A Luciferase reporter assay; IP/WB
Valluy J , et al. 2015
MTAP methylthioadenosine phosphorylase 4507 Q13126 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MTUS1 microtubule associated tumor suppressor 1 57509 Q9ULD2 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
NCOA3 nuclear receptor coactivator 3 8202 Q9Y6Q9 IP/WB; WB; GST
Mani A , et al. 2006
NEURL4 neuralized homolog 4 (Drosophila) 84461 Q96JN8 IP; MS; COMPASS; IP/WB
Martnez-Nol G , et al. 2012
NSUN2 NOP2/Sun RNA methyltransferase family, member 2 54888 Q08J23 IP; LC-MS/MS
Huttlin EL , et al. 2015
OBSL1 obscurin-like 1 23363 O75147 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PGR progesterone receptor 5241 P06401 Y2H; GST; Luciferase reporter assay
Nawaz Z , et al. 1999
PHF17 PHD finger protein 17 79960 Q6IE81 Y2H
Lim J , et al. 2006
PHF17 PHD finger protein 17 79960 Q6IE81 Y2H
Corominas R , et al. 2014
PIPSL PIP5K1A and PSMD4-like, pseudogene 266971 A2A3N6 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PLAUR plasminogen activator, urokinase receptor 5329 Q03405 IP; LC-MS/MS
Huttlin EL , et al. 2015
Ppara peroxisome proliferator activated receptor alpha 25747 P37230 Luciferase reporter assay; M2H
Gopinathan L , et al. 2008
PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 5682 P25786 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 5683 P25787 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA3 proteasome (prosome, macropain) subunit, alpha type, 3 5684 P25788 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 5685 P25789 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 5686 B4E2V4 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 5687 P60900 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 5689 P20618 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 5690 B7Z478 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 5691 P49720 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 5692 P28070 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 5693 E9PAV2 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB6 proteasome (prosome, macropain) subunit, beta type, 6 5694 P28072 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 5695 E9KL30 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 5700 P62191 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 5701 B7Z571 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 5702 P17980 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 5704 A8K2M0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 5705 P62195 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 5706 P62333 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 5716 O75832 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 5717 O00231 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 5719 Q9UNM6 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 10213 O00487 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 5708 Q13200 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 5709 O43242 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 5710 P55036 Y2H; GST
Sakai Y , et al. 2011
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 5710 P55036 in vitro ubiquitination assay
Yi JJ , et al. 2015
PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 9861 Q15008 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 5713 P51665 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 5714 P48556 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSME4 proteasome (prosome, macropain) activator subunit 4 23198 Q14997 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PTPN2 protein tyrosine phosphatase, non-receptor type 2 5771 P17706 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
RAD23A RAD23 homolog A (S. cerevisiae) 5886 P54725 Y2H; GST; in vitro ubiquitination assay
Kumar S , et al. 1999
RAD23A RAD23 homolog A (S. cerevisiae) 5886 P54725 In vivo ubiquitination assay
Yi JJ , et al. 2015
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 GST; in vitro ubiquitination assay
Kumar S , et al. 1999
RAN RAN, member RAS oncogene family 5901 A8K3Z8 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
RARA retinoic acid receptor, alpha 5914 P10276 Y2H
Lim J , et al. 2006
RYR1 ryanodine receptor 1 (skeletal) 6261 P21817 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SCAMP1 secretory carrier membrane protein 1 9522 O15126 Y2H
Lim J , et al. 2006
SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) 9997 O43819 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SCRIB scribbled homolog (Drosophila) 23513 Q14160 GST; MS; in vitro ubiquitination assay
Nakagawa S and Huibregtse JM 2000
SERHL2 Serine hydrolase-like protein 2 253190 Q9H4I8 IP; LC-MS/MS
Huttlin EL , et al. 2015
SHBG sex hormone-binding globulin 6462 P04278 Y2H
Pope SN and Lee IR 2005
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 6576 D9HTE9 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 8604 O75746 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SMAD9 SMAD family member 9 4093 O15198 Y2H
Colland F , et al. 2004
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 6601 Q8TAQ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SRPRB signal recognition particle receptor, B subunit 58477 Q549N5 IP; LC-MS/MS
Huttlin EL , et al. 2015
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 10534 O60232 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 10910 Q9Y2Z0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
TAT tyrosine aminotransferase 6898 P17735 Y2H
Corominas R , et al. 2014
TAT tyrosine aminotransferase 6898 P17735 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TIMP2 TIMP metallopeptidase inhibitor 2 7077 P16035 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
tkv thickveins 33753 Q7KTP1 in vitro ubiquitination assay; In vivo ubiquitination assay
IP/WB; Co-localization; in vitro ubiquitination assay; In vivo ubiquitination assay
Li W , et al. 2016
TMCO7 transmembrane and coiled-coil domains 7 79613 Q9C0B7 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TP53 tumor protein p53 7157 P04637 GST
Scheffner M , et al. 1993
TRPV5 Transient receptor potential cation channel subfamily V member 5 56302 E9PBZ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSC2 tuberous sclerosis 2 7249 P49815 IP/WB; WB; GST
Zheng L , et al. 2008
TXNL1 thioredoxin-like 1 9352 O43396 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
UBB ubiquitin B 7314 P0CG47 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
UBE2D1 ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) 7321 P51668 Ubiquitin thioester complex formation assay
Nuber U , et al. 1996
UBE2D2 ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast) 7322 P62837 GST
Hatakeyama S , et al. 1997
UBE2D3 ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) 7323 P61077 Ubiquitin thioester complex formation assay
Anan T , et al. 1999
UBE2L3 ubiquitin-conjugating enzyme E2L 3 7332 P68036 X-ray crystallography
Huang L , et al. 1999
UBE2L6 ubiquitin-conjugating enzyme E2L 6 9246 O14933 Y2H; Ubiquitin thioester complex formation assay
Kumar S , et al. 1997
UBE3A ubiquitin protein ligase E3A 7337 Q05086 In vivo ubiquitination assay
Yi JJ , et al. 2015
UBE3C ubiquitin protein ligase E3C 9690 Q15386 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
UBQLN1 ubiquilin 1 29979 Q9UMX0 Y2H; IP/WB
Kleijnen MF , et al. 2000
UBQLN2 ubiquilin 2 29978 Q9UHD9 Y2H; IP/WB
Kleijnen MF , et al. 2000
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 51377 Q9Y5K5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 51377 Q9Y5K5 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 9097 A6NJA2 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
USP16 ubiquitin specific peptidase 16 10600 Q9Y5T5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ZFAND5 zinc finger, AN1-type domain 5 7763 O76080 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ZFAND6 zinc finger, AN1-type domain 6 54469 Q6FIF0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ZFP106 zinc finger protein 106 homolog (mouse) 64397 Q9H2Y7 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
Arc activity regulated cytoskeletal-associated protein 11838 Q9WV31 GST; in vitro ubiquitination assay; WB
Greer PL , et al. 2010
Arhgef15 Rho guanine nucleotide exchange factor (GEF) 15 442801 Q5FWH6 IP/WB; WB
Margolis SS , et al. 2010
Blk B lymphoid kinase 12143 P16277 GST; IP/WB; in vitro ubiquitination assay
Oda H , et al. 1999
Esr2 estrogen receptor 2 (beta) 13983 O08537 IP/WB; WB
Picard N , et al. 2007
Prkaca protein kinase, cAMP dependent, catalytic, alpha 18747 P05132 IP/WB; in vitro kinase assay
Yi JJ , et al. 2015
Mir134 microRNA 134 100314191 Luciferase reporter assay
Valluy J , et al. 2015
Mir485 microRNA 485 100314086 Luciferase reporter assay
Valluy J , et al. 2015
Mir758 microRNA 758 100314176 Luciferase reporter assay
Valluy J , et al. 2015
CG8209 38888 Q9VSC5 IP/WB
Lee SY , et al. 2013
Rpn10 26S proteasome non-ATPase regulatory subunit 4 40388 P55035 IP/WB
Lee SY , et al. 2013
Uch-L5 Ubiquitin C-terminal hydrolase 39102 Q9XZ61 IP/WB
Lee SY , et al. 2013

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