AutismKB 2.0

Annotation Details for GAPVD1


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Basic Information Top
Gene Symbol:GAPVD1 ( DKFZp434C212,GAPEX5,KIAA1521,MGC138847,MGC138848,RAP6 )
Gene Full Name: GTPase activating protein and VPS9 domains 1
Band: 9q33.3
Quick LinksEntrez ID:26130; OMIM: 611714; Uniprot ID:GAPD1_HUMAN; ENSEMBL ID: ENSG00000165219; HGNC ID: 23375
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005768IEA-endosome-
GO:0005829IDA-cytosol16410077
GO:0005829TAS-cytosol-
GO:0016020IEA-membrane-
GO ID Evidence Qualifier GO_term References
GO:0005085IMP-guanyl-nucleotide exchange factor activity16410077
GO:0005096IEA-GTPase activator activity-
GO:0017112TAS-Rab guanyl-nucleotide exchange factor activity-
GO:0032794IMP-GTPase activating protein binding16410077
GO:0045296IDA-cadherin binding25468996
GO ID Evidence Qualifier GO_term References
GO:0006897IEA-endocytosis-
GO:0007165IEA-signal transduction-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0051223IMP-regulation of protein transport16410077
GO:0061024TAS-membrane organization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GAPVD1CBL11756817545148 Affinity Capture-Western
GAPVD1CBL10731517545148 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1913941
  • Data Attributes: HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018