ENSG00000165219


Homo sapiens

Features
Gene ID: ENSG00000165219
  
Biological name :GAPVD1
  
Synonyms : GAPVD1 / GTPase activating protein and VPS9 domains 1 / Q14C86
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q33.3
Gene start: 125261794
Gene end: 125367207
  
Corresponding Affymetrix probe sets: 212802_s_at (Human Genome U133 Plus 2.0 Array)   212804_s_at (Human Genome U133 Plus 2.0 Array)   214869_x_at (Human Genome U133 Plus 2.0 Array)   235553_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377664
Ensembl peptide - ENSP00000377646
Ensembl peptide - ENSP00000377665
Ensembl peptide - ENSP00000419799
Ensembl peptide - ENSP00000419767
Ensembl peptide - ENSP00000419063
Ensembl peptide - ENSP00000418969
Ensembl peptide - ENSP00000418747
Ensembl peptide - ENSP00000413082
Ensembl peptide - ENSP00000391251
Ensembl peptide - ENSP00000265956
Ensembl peptide - ENSP00000297933
Ensembl peptide - ENSP00000309582
Ensembl peptide - ENSP00000377645
NCBI entrez gene - 26130     See in Manteia.
OMIM - 611714
RefSeq - XM_017014611
RefSeq - NM_001282679
RefSeq - NM_001282680
RefSeq - NM_001282681
RefSeq - NM_001330778
RefSeq - NM_015635
RefSeq - XM_005251901
RefSeq - XM_005251904
RefSeq - XM_006717044
RefSeq - XM_011518499
RefSeq - XM_011518500
RefSeq - XM_011518502
RefSeq - XM_011518506
RefSeq - XM_011518507
RefSeq - XM_017014600
RefSeq - XM_017014601
RefSeq - XM_017014602
RefSeq - XM_017014603
RefSeq - XM_017014604
RefSeq - XM_017014605
RefSeq - XM_017014606
RefSeq - XM_017014607
RefSeq - XM_017014608
RefSeq - XM_017014609
RefSeq - XM_017014610
RefSeq Peptide - NP_001341226
RefSeq Peptide - NP_001341229
RefSeq Peptide - NP_001341230
RefSeq Peptide - NP_056450
RefSeq Peptide - NP_001269608
RefSeq Peptide - NP_001269609
RefSeq Peptide - NP_001269610
RefSeq Peptide - NP_001317706
RefSeq Peptide - NP_001317707
RefSeq Peptide - NP_001341223
RefSeq Peptide - NP_001341224
RefSeq Peptide - NP_001341225
RefSeq Peptide - NP_001341228
swissprot - C9IZX9
swissprot - C9IZ08
swissprot - B4DGD8
swissprot - B0QZ65
swissprot - A0A0A0MQV8
swissprot - A0A024R8A2
swissprot - A0A024R875
swissprot - F8W9S7
swissprot - H0Y4E7
swissprot - H0Y7I9
swissprot - A0A024R862
swissprot - Q14C86
Ensembl - ENSG00000165219
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gapvd1ENSDARG00000090183Danio rerio
 GAPVD1ENSGALG00000000993Gallus gallus
 Gapvd1ENSMUSG00000026867Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9UJ41 / RABGEF1 / RAB guanine nucleotide exchange factor 1ENSG000001547107
AC027644.4ENSG000002844611


Protein motifs (from Interpro)
Interpro ID Name
 IPR001936  Ras GTPase-activating domain
 IPR003123  VPS9 domain
 IPR008936  Rho GTPase activation protein
 IPR037191  VPS9 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0043087 regulation of GTPase activity IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0051223 regulation of protein transport IMP
 biological_processGO:0061024 membrane organization TAS
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IMP
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0032794 GTPase activating protein binding IMP
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Clathrin-mediated endocytosis
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000203668 CHML / P26374 / CHM like, Rab escort protein 2  / reaction
 ENSG00000168461 RAB31 / Q13636 / RAB31, member RAS oncogene family  / reaction
 ENSG00000144566 RAB5A / P20339 / RAB5A, member RAS oncogene family  / complex
 ENSG00000188419 CHM / P24386 / CHM, Rab escort protein 1  / reaction
 ENSG00000203879 GDI1 / P31150 / GDP dissociation inhibitor 1  / reaction
 ENSG00000057608 GDI2 / P50395 / GDP dissociation inhibitor 2  / reaction






 

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