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GAPVD1 (GTPase activating protein and VPS9 domains 1)

Identity

Alias_symbol (synonym)DKFZP434C212
KIAA1521
Other aliasGAPEX5
GAPex-5
RAP6
HGNC (Hugo) GAPVD1
LocusID (NCBI) 26130
Atlas_Id 54323
Location 9q33.3  [Link to chromosome band 9q33]
Location_base_pair Starts at 125261794 and ends at 125365011 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATXN1 (6p22.3) / GAPVD1 (9q33.3)ZNF483 (9q31.3) / GAPVD1 (9q33.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GAPVD1   23375
Cards
Entrez_Gene (NCBI)GAPVD1  26130  GTPase activating protein and VPS9 domains 1
AliasesGAPEX5; GAPex-5; RAP6
GeneCards (Weizmann)GAPVD1
Ensembl hg19 (Hinxton)ENSG00000165219 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165219 [Gene_View]  chr9:125261794-125365011 [Contig_View]  GAPVD1 [Vega]
ICGC DataPortalENSG00000165219
TCGA cBioPortalGAPVD1
AceView (NCBI)GAPVD1
Genatlas (Paris)GAPVD1
WikiGenes26130
SOURCE (Princeton)GAPVD1
Genetics Home Reference (NIH)GAPVD1
Genomic and cartography
GoldenPath hg38 (UCSC)GAPVD1  -     chr9:125261794-125365011 +  9q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GAPVD1  -     9q33.3   [Description]    (hg19-Feb_2009)
EnsemblGAPVD1 - 9q33.3 [CytoView hg19]  GAPVD1 - 9q33.3 [CytoView hg38]
Mapping of homologs : NCBIGAPVD1 [Mapview hg19]  GAPVD1 [Mapview hg38]
OMIM611714   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001282679 NM_001282680 NM_001282681 NM_001330777 NM_001330778 NM_015635
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GAPVD1
Cluster EST : UnigeneHs.495134 [ NCBI ]
CGAP (NCI)Hs.495134
Alternative Splicing GalleryENSG00000165219
Gene ExpressionGAPVD1 [ NCBI-GEO ]   GAPVD1 [ EBI - ARRAY_EXPRESS ]   GAPVD1 [ SEEK ]   GAPVD1 [ MEM ]
Gene Expression Viewer (FireBrowse)GAPVD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26130
GTEX Portal (Tissue expression)GAPVD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14C86   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14C86  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14C86
Splice isoforms : SwissVarQ14C86
PhosPhoSitePlusQ14C86
Domaine pattern : Prosite (Expaxy)RAS_GTPASE_ACTIV_2 (PS50018)    VPS9 (PS51205)   
Domains : Interpro (EBI)RasGAP_dom    Rho_GTPase_activation_prot    VPS9   
Domain families : Pfam (Sanger)RasGAP (PF00616)    VPS9 (PF02204)   
Domain families : Pfam (NCBI)pfam00616    pfam02204   
Domain families : Smart (EMBL)VPS9 (SM00167)  
Conserved Domain (NCBI)GAPVD1
DMDM Disease mutations26130
Blocks (Seattle)GAPVD1
SuperfamilyQ14C86
Human Protein AtlasENSG00000165219
Peptide AtlasQ14C86
HPRD10886
IPIIPI00888069   IPI00873087   IPI00852719   IPI00883910   IPI00302156   IPI00292753   IPI00902469   IPI00902869   IPI00946081   IPI01010497   IPI00853447   IPI01011269   IPI00946050   IPI00945737   
Protein Interaction databases
DIP (DOE-UCLA)Q14C86
IntAct (EBI)Q14C86
FunCoupENSG00000165219
BioGRIDGAPVD1
STRING (EMBL)GAPVD1
ZODIACGAPVD1
Ontologies - Pathways
QuickGOQ14C86
Ontology : AmiGOguanyl-nucleotide exchange factor activity  GTPase activator activity  endosome  cytosol  cytosol  endocytosis  signal transduction  membrane  Rab guanyl-nucleotide exchange factor activity  GTPase activating protein binding  positive regulation of GTPase activity  cadherin binding  regulation of protein transport  membrane organization  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  GTPase activator activity  endosome  cytosol  cytosol  endocytosis  signal transduction  membrane  Rab guanyl-nucleotide exchange factor activity  GTPase activating protein binding  positive regulation of GTPase activity  cadherin binding  regulation of protein transport  membrane organization  
NDEx NetworkGAPVD1
Atlas of Cancer Signalling NetworkGAPVD1
Wikipedia pathwaysGAPVD1
Orthology - Evolution
OrthoDB26130
GeneTree (enSembl)ENSG00000165219
Phylogenetic Trees/Animal Genes : TreeFamGAPVD1
HOVERGENQ14C86
HOGENOMQ14C86
Homologs : HomoloGeneGAPVD1
Homology/Alignments : Family Browser (UCSC)GAPVD1
Gene fusions - Rearrangements
Fusion : MitelmanZNF483/GAPVD1 [9q31.3/9q33.3]  [t(9;9)(q31;q33)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGAPVD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAPVD1
dbVarGAPVD1
ClinVarGAPVD1
1000_GenomesGAPVD1 
Exome Variant ServerGAPVD1
ExAC (Exome Aggregation Consortium)GAPVD1 (select the gene name)
Genetic variants : HAPMAP26130
Genomic Variants (DGV)GAPVD1 [DGVbeta]
DECIPHERGAPVD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGAPVD1 
Mutations
ICGC Data PortalGAPVD1 
TCGA Data PortalGAPVD1 
Broad Tumor PortalGAPVD1
OASIS PortalGAPVD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGAPVD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGAPVD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GAPVD1
DgiDB (Drug Gene Interaction Database)GAPVD1
DoCM (Curated mutations)GAPVD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAPVD1 (select a term)
intoGenGAPVD1
Cancer3DGAPVD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611714   
Orphanet
MedgenGAPVD1
Genetic Testing Registry GAPVD1
NextProtQ14C86 [Medical]
TSGene26130
GENETestsGAPVD1
Target ValidationGAPVD1
Huge Navigator GAPVD1 [HugePedia]
snp3D : Map Gene to Disease26130
BioCentury BCIQGAPVD1
ClinGenGAPVD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26130
Chemical/Pharm GKB GenePA142671748
Clinical trialGAPVD1
Miscellaneous
canSAR (ICR)GAPVD1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAPVD1
EVEXGAPVD1
GoPubMedGAPVD1
iHOPGAPVD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:34:52 CEST 2017

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