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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, genetic association exists between autism and tuberous sclerosis (and hence the TSC1 and TSC2 genes as well).

Molecular Function

This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin and has been implicated as a tumor supressor.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism and tuberous sclerosis.
Tuberous sclerosis-1
ASD
Negative Association
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
Epilepsy/seizures
Support
Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex
Tuberous sclerosis-1
Epilepsy/seizures
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Support
Tuberous sclerosis-1
ASD
Support
Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss
ASD
Support
Tsc1 Haploinsufficiency Leads to Pax2 Dysregulation in the Developing Murine Cerebellum
Support
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Non-syndromic ASD
Support
DD, ID, epilepsy/seizures
Support
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
ASD, epilepsy/seizures
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
Support
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
ASD
DD, ID
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
Tuberous sclerosis complex
Support
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Epilepsy/seizures
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
Epilepsy/seizures, ID
Support
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
ASD
Epilepsy/seizures
Support
Tuberous sclerosis complex, ASD
Support
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
Focal cortical dysplasia
Support
Tuberous sclerosis 1
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Highly Cited
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
Highly Cited
Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling.
Recent Recommendation
Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells.
Recent recommendation
TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling.
Tuberous sclerosis-1
Recent Recommendation
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2.
Recent Recommendation
Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex.
Recent Recommendation
Neuroepileptic correlates of autistic symptomatology in tuberous sclerosis.
Recent Recommendation
Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.
Recent Recommendation
Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures.
Recent Recommendation
Tuberous sclerosis complex proteins control axon formation.
Recent Recommendation
Cognitive deficits in Tsc1 mice in the absence of cerebral lesions and seizures.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN255R001 
  
  
  
  
  
  
 GEN255R002 
 missense_variant 
 c.2199A>G 
 p.Met1067Leu 
 Unknown 
  
 Simplex 
 GEN255R003 
 missense_variant 
 c.3103G>A 
 p.Gly1035Ser 
 Unknown 
  
 Simplex 
 GEN255R004 
 missense_variant 
 c.2285A>G 
 p.Asn762Ser 
 Unknown 
  
 Simplex 
 GEN255R005 
 missense_variant 
 c.2194C>T 
 p.His732Tyr 
 Familial (1 case); unknown (1 case) 
 Maternal (1 case) 
 Simplex 
 GEN255R006 
 missense_variant 
 c.1760A>G 
 p.Lys587Arg 
 Familial (4 cases); unknown (3 cases) 
 Maternal (3 cases); paternal (1 cases) 
 Simplex 
 GEN255R007 
 missense_variant 
 c.1342C>T 
 p.Pro448Ser 
 Unknown 
  
 Simplex 
 GEN255R008 
 missense_variant 
 c.1208C>T 
 p.Ser403Leu 
 Familial (1 case); unknown (1 case) 
 Paternal (1 case) 
 Simplex 
 GEN255R009 
 missense_variant 
 c.1079C>A 
 p.Thr360Asn 
 Familial (2 cases); unknown (1 case) 
 Paternal (2 cases) 
 Simplex 
 GEN255R010 
 missense_variant 
 c.1006C>T 
 p.Arg336Trp 
 Familial 
 Paternal 
 Simplex 
 GEN255R011 
 synonymous_variant 
 c.201A>G 
 p.Pro67= 
  
  
 Multiplex 
 GEN255R012 
 intron_variant 
 c.210+18A>G 
  
  
  
 Multiplex 
 GEN255R013 
 missense_variant 
 c.346T>G 
 p.Leu116Val 
  
  
 Multiplex 
 GEN255R014 
 missense_variant 
 c.692C>T 
 p.Pro231Leu 
  
  
 Multiplex 
 GEN255R015 
 missense_variant 
 c.1006C>T 
 p.Arg336Trp 
  
  
 Multiplex 
 GEN255R016 
 missense_variant 
 c.1178C>T 
 p.Thr393Ile 
  
  
 Multiplex 
 GEN255R017 
 missense_variant 
 c.1342C>T 
 p.Pro448Ser 
  
  
 Multiplex 
 GEN255R018 
 missense_variant 
 c.1580A>G 
 p.Gln527Arg 
  
  
 Multiplex 
 GEN255R019 
 missense_variant 
 c.1960C>G 
 p.Gln654Glu 
  
  
 Multiplex 
 GEN255R020 
 intron_variant 
 c.2392-13T>C 
  
  
  
 Multiplex 
 GEN255R021 
 intron_variant 
 c.2626-3C>T 
  
  
  
 Multiplex 
 GEN255R022 
 missense_variant 
 c.2718A>C 
 p.Gln906His 
  
  
 Multiplex 
 GEN255R023 
 synonymous_variant 
 c.3042C>T 
 p.His1014= 
  
  
 Multiplex 
 GEN255R024 
 missense_variant 
 c.1079C>A 
 p.Thr360Asn 
 Familial 
  
 Simplex 
 GEN255R025 
 missense_variant 
 c.1342C>T 
 p.Pro448Ser 
 Familial 
 Paternal 
 Simplex 
 GEN255R026 
 missense_variant 
 c.556G>T 
 p.Ala186Ser 
 Familial 
 Maternal 
 Multiplex 
 GEN255R027 
 missense_variant 
 c.16A>G 
 p.Asn6Asp 
 Familial 
 Maternal 
  
 GEN255R028 
 missense_variant 
 c.610C>T 
 p.Arg204Cys 
  
  
  
 GEN255R029 
 missense_variant 
 c.64C>T 
 p.Arg22Trp 
  
  
  
 GEN255R030 
 missense_variant 
 c.64C>T 
 p.Arg22Trp 
  
  
  
 GEN255R031 
 missense_variant 
 c.64C>T 
 p.Arg22Trp 
  
  
  
 GEN255R032 
 frameshift_variant 
 c.658del 
 p.Val220SerfsTer4 
 De novo 
  
  
 GEN255R033 
 inframe_deletion 
 c.2506_2509del 
 p.Ser836ThrfsTer12 
 De novo 
  
  
 GEN255R034 
 frameshift_variant 
 c.570_583del 
 p.Leu191ProfsTer22 
 Familial 
 Maternal 
  
 GEN255R035 
 frameshift_variant 
 c.2047_2048insTG 
 p.Pro683LeufsTer42 
 Unknown 
  
  
 GEN255R036 
 frameshift_variant 
 c.1530_1531del 
 p.Asp510GlufsTer24 
 De novo 
  
  
 GEN255R037 
 frameshift_variant 
 c.2559_2563del 
 p.Leu853PhefsTer49 
 Unknown 
  
  
 GEN255R038 
 frameshift_variant 
 c.1888_1891del 
 p.Lys630GlnfsTer22 
 Unknown 
  
  
 GEN255R039 
 frameshift_variant 
 c.1591del 
 p.Val531Ter 
 Unknown 
  
  
 GEN255R040 
 stop_gained 
 c.445C>T 
 p.Gln149Ter 
 Unknown 
  
  
 GEN255R041 
 stop_gained 
 c.2773G>T 
 p.Glu925Ter 
 Unknown 
  
  
 GEN255R042 
 frameshift_variant 
 c.570_583del 
 p.Leu191ProfsTer22 
 Familial 
 Maternal 
  
 GEN255R043 
 frameshift_variant 
 c.2047_2048insTG 
 p.Pro683LeufsTer42 
 Unknown 
  
  
 GEN255R044 
 frameshift_variant 
 c.2509_2512del 
 p.Asn837ValfsTer11 
 Unknown 
  
  
 GEN255R045 
 missense_variant 
 c.2144G>A 
 p.Arg715Gln 
 Unknown 
  
  
 GEN255R046 
 missense_variant 
 c.2722C>T 
 p.Arg908Trp 
 De novo 
  
  
 GEN255R047 
 stop_gained 
 c.2380C>T 
 p.Gln794Ter 
 De novo 
  
  
 GEN255R048 
 frameshift_variant 
 c.1797dup 
 p.Gln600AlafsTer6 
 De novo 
  
  
 GEN255R049 
 missense_variant 
 c.1006C>T 
 p.Arg336Trp 
 De novo 
  
  
 GEN255R050 
 stop_gained 
 c.751G>T 
 p.Glu251Ter 
 De novo 
  
  
 GEN255R051 
 splice_site_variant 
 c.-80-2A>G 
  
 Familial 
 Maternal 
 Multiplex 
 GEN255R052 
 missense_variant 
 c.1816C>T 
 p.His606Tyr 
 Unknown 
  
 Simplex 
 GEN255R053 
 stop_gained 
 c.2074C>T 
 p.Arg692Ter 
 Unknown 
  
 Multiplex 
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
9
Duplication
 1
 
9
Deletion
 1
 
9
Duplication
 1
 
9
Duplication
 1
 
9
Deletion-Duplication
 10
 
9
N/A
 2
 
9
Duplication
 2
 
9
Deletion-Duplication
 9
 

Model Summary

Tsc1 mutant flies show impairments in olfactory associative learning as well as a severe decrease in reversal learning task, a measure of behavioral flexibility. This deficit seems to be due to enhanced old memories, driven by inability to active Rac1-dependent forgetting. This behavioral inflexibility seems to be driven by Tsc1 function in the mushroom bodies.

References

Type
Title
Author, Year
Primary
Lethality of Drosophila lacking TSC tumor suppressor function rescued by reducing dS6K signaling.
Primary
Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes.

F_TSC1_4_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: dTsc1 null larvae.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background: y w
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_TSC1_5_KI_HM_ACT5C-GAL4:UAS-TSC1/2

Model Type: Genetic
Model Genotype: Homozygous
Mutation: dTsc1 was expressed ubiquitously in larvae using the GAL4/UAS system, such that the GAL4 promoter led to developmental arrest at late larval second instar.
Allele Type: Overexpression
Strain of Origin:
Genetic Background: y w
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_TSC1_6_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: dTsc1 was removed in cells giving rise to the adult eye structure by inducing mitotic recombination with the FLP/FRT system under the control of the eyeless promoter.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background: y w
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_TSC1_1_KO_HM_R460X

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies bearing a nonsense mutation R460X, in TSC1.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source: Rongwen Xi (National Institute of Biological Sciences, Beijing)

F_TSC1_2_CKD_HM_NEURONS

Model Type: Genetic
Model Genotype: Homozygous
Mutation: elav-GS/UAS-Tsc1-RNAi^31314: loss of Tsc1 expression in neurons.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background: w^1118
ES Cell Line:
Mutant ES Cell Line:
Model Source: Bloomington Drosophila Stock Center. Rongwen Xi (National Institute of Biological Sciences, Beijing)

F_TSC1_3_CKD_HM_MUSHROOMBODY

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Acute downregulation of Tsc1 in the mushroom body by the MB-GS system. .
Allele Type: Loss-of-function
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_TSC1_4_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Tsc1 mutant larvae showed increased lethality compareted to controls, with 0% surviving to pupal (and adult) stage.
 General observations
 Second instar larval stage
Size/growth1
Decreased
Description: Tsc1 mutant larvae showed a decrease in growth compared to controls.
 General observations
 Third instar larval stage
Protein expression level evidence1
Increased
Description: Tsc1 mutant larvae showed an increase in S6K expression compared to controls.
 Western blot
 Second instar larval stage
Protein expression level evidence1
Decreased
Description: Tsc1 mutant larvae showed a decrease in PKB expression compared to controls.
 Western blot
 Second instar larval stage
Enzyme activity1
Decreased
Description: Pten mutant larvae showed a decrease in PKB activity compared to controls.
 Western blot
 Second instar larval 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_TSC1_5_KI_HM_ACT5C-GAL4:UAS-TSC1/2

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Protein expression level evidence1
Decreased
Description: Tsc1/2 mutant larvae showed a decrease in S6k expression compared to controls.
 Western blot
 Second instar larval stage
Protein expression level evidence1
 No change
 Western blot
 Second instar larval 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_TSC1_6_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Eye development: compound eye morphogenesis1
Increased
Description: Tsc1 mutants show strong overgrowth of head imaginal tissue compared to controls.
 General observations
 Second instar larval 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_TSC1_1_KO_HM_R460X

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cognitive flexibility: associative learning1
Decreased
Description: Tsc1 mutants showed a severe decrease in olfactory reversal learning compared to controls.
 Reversal learning of olfactory classical conditioning
 Adult stage
Olfactory learning and memory1
Decreased
Description: Tsc1 mutants showed a decrease in olfactory associative aversive learning compared to controls.
 Olfactory classical conditioning
 Adult stage
Cued or contextual fear conditioning: memory of cue: long term recall1
Increased
Description: Tsc1 mutants showed an increase in olfactory associative aversive learning compared to controls.
 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_TSC1_2_CKD_HM_NEURONS

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cognitive flexibility: associative learning1
Decreased
Description: Nlg4 mutants showed a decrease in olfactory reversal learning compared to controls.
 Reversal learning of olfactory classical conditioning
 Adult stage
Cued or contextual fear conditioning: memory of cue: long term recall1
Increased
Description: Tsc1 mutants showed an increase in olfactory associative aversive learning compared to controls.
 Olfactory classical conditioning
 Adult stage
Gene expression1
Decreased
Description: Tsc1 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_TSC1_3_CKD_HM_MUSHROOMBODY

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cognitive flexibility: associative learning1
Decreased
Description: Tsc1 mutants showed a decrease in olfactory reversal learning compared to controls.
 Reversal learning of olfactory classical conditioning
 Adult stage
Cued or contextual fear conditioning: memory of cue: long term recall1
Increased
Description: Tsc1 mutants showed an increase in olfactory associative aversive learning compared to controls.
 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





Download TSC1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ABI1 abl-interactor 1 10006 Q8IZP0 Y2H
Sakai Y , et al. 2011
ACTN1 actinin, alpha 1 87 P12814 Y2H; IP/WB
Sakai Y , et al. 2011
ACTN2 actinin, alpha 2 88 P35609 Y2H
Sakai Y , et al. 2011
AKT1 v-akt murine thymoma viral oncogene homolog 1 207 P31749 IP/WB
Dan HC , et al. 2002
AKTIP AKT-interacting protein 64400 Q9H8T0-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ANKIB1 ankyrin repeat and IBR domain containing 1 54467 Q9P2G1 Y2H
Sakai Y , et al. 2011
ANKRD24 ankyrin repeat domain 24 170961 Q8TF21 Y2H
Sakai Y , et al. 2011
ANKRD35 ankyrin repeat domain 35 148741 Q8N283 Y2H
Sakai Y , et al. 2011
ATN1 atrophin 1 1822 P54259 Y2H
Sakai Y , et al. 2011
axin1 axin 1 734298 Q9YGY0 IP/WB
Mak BC , et al. 2003
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 53335 Q9H165 Y2H
Sakai Y , et al. 2011
BECN1 beclin 1, autophagy related 8678 Q14457 IP; MS; COMPASS
Behrends C , et al. 2010
BEND5 BEN domain containing 5 79656 Q7L4P6 Y2H
Sakai Y , et al. 2011
C12orf41 chromosome 12 open reading frame 41 54934 Q9H9L4 Y2H
Sakai Y , et al. 2011
C9orf30 chromosome 9 open reading frame 30 91283 Q96H12 Y2H
Sakai Y , et al. 2011
CALCOCO2 calcium binding and coiled-coil domain 2 10241 Q13137 Y2H
Sakai Y , et al. 2011
CASC3 cancer susceptibility candidate 3 22794 O15234 Y2H
Sakai Y , et al. 2011
CCDC88B coiled-coil domain containing 88B 283234 A6NC98 Y2H
Sakai Y , et al. 2011
CCNB1 cyclin B1 891 P14635 IP/WB
Catania MG , et al. 2001
CDK1 cyclin-dependent kinase 1 983 P06493 IP/WB
Catania MG , et al. 2001
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1027 P46527 IP/WB
Rosner M and Hengstschlger M 2004
CDR2 cerebellar degeneration-related protein 2, 62kDa 1039 Q01850 Y2H
Sakai Y , et al. 2011
CEP110 Centriolar coiled-coil protein of 110 kDa 9738 O43303 Y2H
Sakai Y , et al. 2011
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
CNIH cornichon homolog (Drosophila) 10175 O95406 Y2H
Sakai Y , et al. 2011
CNTROB centrobin, centrosomal BRCA2 interacting protein 116840 Q8N137 Y2H
Sakai Y , et al. 2011
COG6 component of oligomeric golgi complex 6 57511 Q9Y2V7 Y2H
Sakai Y , et al. 2011
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 Y2H
Sakai Y , et al. 2011
CUL4A cullin 4A 8451 Q13619 IP/WB
Hu J , et al. 2008
DACH2 dachshund homolog 2 (Drosophila) 117154 Q96NX9 Y2H
Sakai Y , et al. 2011
DCTN2 dynactin 2 (p50) 10540 Q13561 Y2H
Sakai Y , et al. 2011
DDB1 damage-specific DNA binding protein 1, 127kDa 1642 Q16531 IP/WB
Hu J , et al. 2008
DDIT4 DNA-damage-inducible transcript 4 54541 Q9NX09 IP/WB
Vega-Rubin-de-Celis S , et al. 2010
DOCK7 dedicator of cytokinesis 7 85440 Q96N67 IP; MS; IP/WB
Nellist M , et al. 2005
EIF3A eukaryotic translation initiation factor 3, subunit A 8661 Q14152 Y2H
Sakai Y , et al. 2011
EZR ezrin 7430 P15311 Y2H; GST; IP/WB
Lamb RF , et al. 2000
FBF1 Fas (TNFRSF6) binding factor 1 85302 Q8TES7 Y2H
Sakai Y , et al. 2011
FBXW5 F-box and WD repeat domain containing 5 54661 Q969U6 IP/WB
Hu J , et al. 2008
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FTH1 ferritin, heavy polypeptide 1 2495 P02794 Y2H; GST
Sakai Y , et al. 2011
GCC1 GRIP and coiled-coil domain containing 1 79571 Q96CN9 Y2H
Sakai Y , et al. 2011
GEMIN8 gem (nuclear organelle) associated protein 8 54960 Q9NWZ8 Y2H
Sakai Y , et al. 2011
GFAP glial fibrillary acidic protein 2670 P14136 Y2H
Sakai Y , et al. 2011
GOLGA2 golgin A2 2801 Q08379 Y2H
Sakai Y , et al. 2011
GPATCH1 G patch domain containing 1 55094 Q9BRR8 Y2H
Sakai Y , et al. 2011
GSK3B glycogen synthase kinase 3 beta 2932 P49841 IP/WB
Mak BC , et al. 2003
HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 23072 Q76N89 Y2H
Sakai Y , et al. 2011
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 9146 O14964 Y2H
Sakai Y , et al. 2011
HNRNPM heterogeneous nuclear ribonucleoprotein M 4670 P52272 Y2H
Sakai Y , et al. 2011
HOMER3 homer homolog 3 (Drosophila) 9454 Q9NSC5 Y2H; IP/WB
Sakai Y , et al. 2011
HOOK2 hook homolog 2 (Drosophila) 29911 Q96ED9 Y2H
Sakai Y , et al. 2011
ICA1 islet cell autoantigen 1, 69kDa 3382 Q05084 Y2H
Sakai Y , et al. 2011
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 3551 O14920 IP/WB; in vitro kinase assay
Lee DF , et al. 2007
KIAA1026 KIAA1026 protein B7ZL87 Y2H; GST
Sakai Y , et al. 2011
KIF1C kinesin family member 1C 10749 O43896 Y2H
Sakai Y , et al. 2011
KIF5A kinesin family member 5A 3798 Q12840 Y2H
Sakai Y , et al. 2011
KLC1 kinesin light chain 1 3831 Q07866 Y2H
Sakai Y , et al. 2011
KLC4 kinesin light chain 4 89953 Q9NSK0 Y2H
Sakai Y , et al. 2011
LOC347475 coiled-coil domain containing 160 347475 A6NGH7 Y2H
Sakai Y , et al. 2011
LRSAM1 leucine rich repeat and sterile alpha motif containing 1 90678 Q6UWE0 Y2H
Sakai Y , et al. 2011
LUC7L LUC7-like (S. cerevisiae) 55692 Q9NQ29 Y2H
Sakai Y , et al. 2011
LZTS2 leucine zipper, putative tumor suppressor 2 84445 Q9BRK4 Y2H
Sakai Y , et al. 2011
MAPKAP1 mitogen-activated protein kinase associated protein 1 79109 Q9BPZ7 IP/WB
Huang J , et al. 2009
MBIP MAP3K12 binding inhibitory protein 1 51562 Q9NS73 Y2H
Sakai Y , et al. 2011
MBP myelin basic protein 4155 P02686 Y2H
Sakai Y , et al. 2011
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) 64223 Q9BVC4 IP/WB
Huang J , et al. 2009
MT-ND1 mitochondrially encoded NADH dehydrogenase 1 4535 P03886 Y2H
Sakai Y , et al. 2011
MTOR mechanistic target of rapamycin (serine/threonine kinase) 2475 P42345 IP/WB
Maiese K , et al. 2012
NECAB2 N-terminal EF-hand calcium binding protein 2 54550 Q7Z6G3 Y2H
Sakai Y , et al. 2011
NEFL neurofilament, light polypeptide 4747 P07196 Y2H; GST; IP/WB
Haddad LA , et al. 2002
NF2 neurofibromin 2 (merlin) 4771 P35240 GST
Haddad LA , et al. 2002
NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 27018 Q00994 Y2H; GST; IP/WB
Yasui S , et al. 2007
NINL ninein-like 22981 Q9Y2I6 Y2H
Sakai Y , et al. 2011
NKD2 naked cuticle homolog 2 (Drosophila) 85409 Q969F2 Y2H
Sakai Y , et al. 2011
NRBF2 nuclear receptor binding factor 2 29982 Q96F24 Y2H
Sakai Y , et al. 2011
PHLDB1 pleckstrin homology-like domain, family B, member 1 23187 Q86UU1 Y2H
Sakai Y , et al. 2011
PICK1 protein interacting with PRKCA 1 9463 Q9NRD5 Y2H; GST
Sakai Y , et al. 2011
PLK1 polo-like kinase 1 5347 P53350 IP/WB
Astrinidis A , et al. 2005
PLK2 polo-like kinase 2 10769 Q9NYY3 IP/WB; GST
Matthew EM , et al. 2010
PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 8499 O75334 Y2H
Sakai Y , et al. 2011
RALYL RALY RNA binding protein-like 138046 Q86SE5 Y2H
Sakai Y , et al. 2011
RB1CC1 RB1-inducible coiled-coil 1 9821 Q8TDY2 Y2H; GST; IP/WB
Gan B , et al. 2005
RHEB Ras homolog enriched in brain 6009 Q15382 GTP hydrolysis assay
Garami A , et al. 2003
RICTOR RPTOR independent companion of MTOR, complex 2 253260 Q6R327 IP/WB
Huang J , et al. 2009
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 6195 Q15418 IP/WB
Roux PP , et al. 2004
RUNDC3A RUN domain containing 3A 10900 Q59EK9 Y2H
Sakai Y , et al. 2011
SCMH1 sex comb on midleg homolog 1 (Drosophila) 22955 Q96GD3 Y2H
Sakai Y , et al. 2011
SEC31A SEC31 homolog A (S. cerevisiae) 22872 O94979 Y2H
Sakai Y , et al. 2011
SEPW1 selenoprotein W, 1 6415 P63302 Y2H
Sakai Y , et al. 2011
SERTAD1 SERTA domain containing 1 29950 Q9UHV2 Y2H
Sakai Y , et al. 2011
SHANK1 SH3 and multiple ankyrin repeat domains 1 50944 Q9Y566 Y2H; IP/WB
Sakai Y , et al. 2011
SORBS3 sorbin and SH3 domain containing 3 10174 O60504 Y2H
Sakai Y , et al. 2011
SPAG5 sperm associated antigen 5 10615 Q96R06 Y2H
Sakai Y , et al. 2011
TANK TRAF family member-associated NFKB activator 10010 Q92844 Y2H; GST
Sakai Y , et al. 2011
TBC1D7 TBC1 domain family, member 7 51256 Q9P0N9 IP/WB; GST
Nakashima A , et al. 2007
TBC1D7 TBC1 domain family, member 7 51256 Q9P0N9 IP; LC-MS/MS
Huttlin EL , et al. 2015
TFIP11 tuftelin interacting protein 11 24144 Q9UBB9 Y2H
Sakai Y , et al. 2011
TRIM3 tripartite motif containing 3 10612 O75382 Y2H
Sakai Y , et al. 2011
TRIOBP TRIO and F-actin binding protein 11078 Q9H2D6 Y2H
Sakai Y , et al. 2011
TSC1 tuberous sclerosis 1 7248 Q92574 Y2H
Nellist M , et al. 1999
TSC2 tuberous sclerosis 2 7249 P49815 Y2H; IP/WB
van Slegtenhorst M , et al. 1998
UBC ubiquitin C 7316 P63279 IP/WB
Benvenuto G , et al. 2001
VIM vimentin 7431 P08670 Y2H
Sakai Y , et al. 2011
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 7529 P31946 GST
Nellist M , et al. 2002
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 7531 P62258 GST
Nellist M , et al. 2002
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 7532 P61981 GST
Nellist M , et al. 2002
YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 7533 Q04917 GST
Nellist M , et al. 2002
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 10971 P27348 GST
Nellist M , et al. 2002
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 7534 P63104 GST
Nellist M , et al. 2002
ZNF423 zinc finger protein 423 23090 Q2M1K9 Y2H
Sakai Y , et al. 2011
Msn moesin 17698 P26041 Y2H; GST
Lamb RF , et al. 2000
Rdx radixin 19684 P26043 Y2H; GST
Lamb RF , et al. 2000
Shank3 SH3/ankyrin domain gene 3 58234 Q4ACU6 IP/WB
Sakai Y , et al. 2011
STAT3 signal transducer and activator of transcription 3 20848 P42227 qRT-PCR; ELISA; IP/WB
Xu Y , et al. 2015
MYCBP2 MYC binding protein 2 23077 O75592 IP/WB
Murthy V , et al. 2003
Ppp1r15a protein phosphatase 1, regulatory subunit 15A 171071 Q6IN02 IP/WB
Hyrskyluoto A , et al. 2011
PTK2 PTK2 protein tyrosine kinase 2 5747 Q05397 GST
Gan B , et al. 2006
unk unkempt 42738 Q86B79 Immunofluorescence; M2 affinity gel assay; IP/WB
Avet-Rochex A , et al. 2014

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