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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
ID, epilepsy/seizures
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
Support
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
ASD
DD, ID, epilepsy/seizures
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Angelman syndrome
DD, epilepsy/seizures
Support
ASD
DD, ID, 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
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
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
Excessive Laughter-like Vocalizations, Microcephaly, and Translational Outcomes in the Ube3a Deletion Rat Model of Angelman Syndrome
Angelman syndrome
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
Angelman syndrome
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
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
DD
Support
Expanding the genetic heterogeneity of intellectual disability.
ID, microcephaly, epilepsy/seizures
Support
Epilepsy/seizures
ID
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
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay
DD, ID
Support
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/-catenin pathway by inhibiting the proteasome.
Support
ASD, Angelman syndrome
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 yield of next-generation sequencing in 87 families with neurodevelopmental disorders
ID
Support
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Epilepsy/seizures
Angelman syndrome
Highly Cited
UBE3A/E6-AP mutations cause Angelman syndrome.
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.
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
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
DD, ID, epilepsy/seizures
ASD, ADHD
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.

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 
  
 Simplex 
 GEN262R011 
 missense_variant 
 c.2609G>A 
 p.Gly870Asp 
 De novo 
  
 Multiplex 
 GEN262R012 
 frameshift_variant 
 c.2572_2573insCTTA 
 p.Leu858ProfsTer3 
 De novo 
  
  
 GEN262R013 
 missense_variant 
 c.408T>C 
 p.Ile136= 
 De novo 
  
  
 GEN262R014 
 frameshift_variant 
 c.312_315del 
 p.Asn105ThrfsTer6 
 De novo 
  
  
 GEN262R015 
 frameshift_variant 
 c.-284del 
  
  
  
 Multiplex 
 GEN262R016 
 frameshift_variant 
 c.1978_1979insCAGAGTTTAAAAG 
 p.Gln660ProfsTer14 
 De novo 
  
  
 GEN262R017 
 missense_variant 
 c.2281G>A 
 p.Gly761Arg 
 De novo 
  
  
 GEN262R018 
 frameshift_variant 
 c.2576_2579del 
 p.Lys859ArgfsTer4 
 De novo 
  
  
 GEN262R019 
 stop_gained 
 c.1437C>A 
 p.Tyr479Ter 
 De novo 
  
  
 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 
  
  
 GEN262R023 
 frameshift_variant 
 c.386_390del 
 p.Thr129ArgfsTer5 
 De novo 
  
 Simplex 
 GEN262R024 
 stop_gained 
 c.2410C>T 
 p.Gln804Ter 
 De novo 
  
 Simplex 
 GEN262R025 
 missense_variant 
 c.1682G>A 
 p.Gly561Glu 
 De novo 
  
 Simplex 
 GEN262R026 
 missense_variant 
 c.2359A>G 
 p.Thr787Ala 
 Familial 
 Maternal 
 Multiplex 
 GEN262R027 
 missense_variant 
 c.2359A>G 
 p.Thr787Ala 
 Unknown 
  
  
 GEN262R028 
 missense_variant 
 c.2359A>G 
 p.Thr787Ala 
 Unknown 
  
  
 GEN262R029 
 inframe_deletion 
 c.2185_2187del 
 p.Gln729del 
 Familial 
 Maternal 
 Multiplex 
 GEN262R030 
 missense_variant 
 c.2402T>A 
 p.Leu801His 
 Familial 
 Maternal 
 Simplex 
 GEN262R031 
 missense_variant 
 c.1561G>A 
 p.Ala521Thr 
 Familial 
 Maternal 
  
 GEN262R032 
 missense_variant 
 c.1546C>T 
 p.Arg516Trp 
 Unknown 
  
  
 GEN262R033 
 missense_variant 
 c.2263G>A 
 p.Gly755Ser 
 Unknown 
 Not maternal 
  
 GEN262R034 
 stop_gained 
 c.1437C>A 
 p.Tyr479Ter 
 De novo 
  
  
 GEN262R035 
 frameshift_variant 
 c.2516_2519del 
 p.Thr839IlefsTer24 
 Familial 
 Maternal 
  
 GEN262R036 
 frameshift_variant 
 c.2019del 
 p.Asp674MetfsTer3 
 Familial 
 Maternal 
  
 GEN262R037 
 missense_variant 
 c.2029G>C 
 p.Gly677Arg 
 Familial 
 Maternal 
 Extended multiplex 
 GEN262R038 
 frameshift_variant 
 c.2586_2587del 
 p.Leu862PhefsTer21 
 Unknown 
  
  
 GEN262R039 
 missense_variant 
 c.328G>A 
 p.Glu110Lys 
 Familial 
 Paternal 
 Simplex 
 GEN262R040 
 frameshift_variant 
 c.1845dup 
 p.Gly616TrpfsTer11 
 De novo 
  
 Simplex 
 GEN262R041 
 missense_variant 
 c.2549C>T 
 p.Pro850Leu 
 De novo 
  
 Simplex 
 GEN262R042 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
  et al.  

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
 9
 
15
Duplication
 2
 
15
Duplication
 5
 
15
Deletion
 1
 
15
Deletion-Duplication
 114
 
15
Duplication
 10
 
15
Duplication
 81
  construct
15
Duplication
 9
 
15
Duplication
 19
 
15
Duplication
 3
 

F_UBE3A_29_KO_HT_G-UBE3A

Rescue Type: RESCUE-Genetic
Rescue Paradigm: Reexpression of genomic Ube3a in maternally-inherited null allele background.

F_UBE3A_29_KO_HT_G-UBE3A

Category
Entity
Effect on phenotype Qualification
Restored Treatment improves measured phenotype significantly
Refractory Treatment does not improve measured phenotype (was expected to do so)
Ameliorated Treatment provides partial correction or improvement of measured phenotype
No adverse effect Treatment does not affect the parameter adversely
Sustained effect Treatment has long term effect of restoration or amelioration, tested AFTER stopping administration (not applied for continuing long-term treatment) . Will be applied only where treatment has had restorative effects during administration or in the first battery of tests conducted.
No sustained effect Treatment has no long term of restoration or amelioration detectable, after stopping administration. Will be applied only where treatment has had restorative effects during administration or in the first battery of tests conducted.
Unexpected results Treats an unexpected phenotype
Side effect Exaggerates an unexpected phenotype
Experimental Paradigm
Age at Testing
Conditioned taste aversion: phototaxis suppression1
Restored
Description: Re-expression of genomic Ube3a restored the learning ability of Ube3a mutants.
 Conditioned taste aversion test
 Larval stage
Conditioned taste aversion: phototaxis suppression1
Restored
Description: Re-expression of genomic Ube3a restored the learning ability of Ube3a mutants.
 Conditioned taste aversion test
 2-3 days
 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_29_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Conditioned taste aversion: phototaxis suppression1
 Decreased
Description: Ube3a mutants showed a decrease in learning ability compared to controls.
 Conditioned taste aversion test
 2-3 days
 Conditioned taste aversion: phototaxis suppression1
 Decreased
Description: Ube3a mutants showed a decrease in learning ability compared to controls.
 Conditioned taste aversion test
 Larval stage
 Gene expression1
 Increased
Description: Ube3a mutants showed an increase in amn expression compared to controls.
 Quantitative pcr (qrt-pcr)
 2-3 days
 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
 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





Download UBE3A's Cytoscape file

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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