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Relevance to Autism

Rare single-gene CNVs in the TBC1D5 gene were observed multiple times among 996 individuals of European ancestry with ASD but not in 1,287 matched controls (Pinto et al., 2010).

Molecular Function

The encoded protein may act as a GTPase-activating protein for Rab family protein(s).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
AMPK-mediated AS160 phosphorylation in skeletal muscle is dependent on AMPK catalytic and regulatory subunits.
Highly Cited
Insulin stimulation of GLUT4 exocytosis, but not its inhibition of endocytosis, is dependent on RabGAP AS160.
Recent Recommendation
The Rab GTPase-activating protein AS160 as a common regulator of insulin- and Galphaq-mediated intracellular GLUT4 vesicle distribution.
Recent Recommendation
Intracellular bacterial growth is controlled by a kinase network around PKB/AKT1.
Recent Recommendation
AS160 modulates aldosterone-stimulated epithelial sodium channel forward trafficking.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN248R001 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN248R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN248R003 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN248R004 
 stop_gained 
 c.2092C>T 
 p.Gln698Ter 
 Familial 
 Paternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN248C001 
 intergenic_variant 
 rs11409090 
 A>AT 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 16
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AP2M1 adaptor-related protein complex 2, mu 1 subunit 1173 Q96CW1 Y2H
Rual JF , et al. 2005
ATXN1 ataxin 1 6310 P54253 Y2H; IP/WB
Lim J , et al. 2006
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
EIF1AD eukaryotic translation initiation factor 1A domain containing 84285 Q8N9N8 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GABARAPL1 GABA(A) receptor-associated protein like 1 23710 Q9H0R8 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GABARAPL2 GABA(A) receptor-associated protein-like 2 11345 P60520 Y2H
Rual JF , et al. 2005
GABARAPL2 GABA(A) receptor-associated protein-like 2 11345 P60520 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
UBC ubiquitin C 7316 P63279 MS
Wagner SA , et al. 2011
VPS26A vacuolar protein sorting 26 homolog A (S. pombe) 9559 O75436 IP; LC-MS/MS
Huttlin EL , et al. 2015
VPS26B vacuolar protein sorting 26 homolog B (S. pombe) 112936 Q4G0F5 IP; LC-MS/MS
Huttlin EL , et al. 2015
VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) 51699 Q9UBQ0 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) 51699 Q9UBQ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
MIB1 mindbomb E3 ubiquitin protein ligase 1 307594 D3ZUV2 Affinity chromatography; LC-MS/MS
Mertz J , et al. 2015

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