GAPVD1 (GTPase activating protein and VPS9 domains 1)

2014-08-01  

Identity

HGNC
LOCATION
9q33.3
LOCUSID
ALIAS
GAPEX5,GAPex-5,RAP6
FUSION GENES

Other Information

Locus ID:

NCBI: 26130
MIM: 611714
HGNC: 23375
Ensembl: ENSG00000165219

Variants:

dbSNP: 26130
ClinVar: 26130
TCGA: ENSG00000165219
COSMIC: GAPVD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165219ENST00000265956A0A0A0MQV8
ENSG00000165219ENST00000297933Q14C86
ENSG00000165219ENST00000297933A0A024R862
ENSG00000165219ENST00000312123Q14C86
ENSG00000165219ENST00000394083F8W9S7
ENSG00000165219ENST00000394084B0QZ65
ENSG00000165219ENST00000394104Q14C86
ENSG00000165219ENST00000394105Q14C86
ENSG00000165219ENST00000394105A0A024R8A2
ENSG00000165219ENST00000431329H0Y7I9
ENSG00000165219ENST00000436712H0Y4E7
ENSG00000165219ENST00000461379C9IZX9
ENSG00000165219ENST00000467750C9IZ08
ENSG00000165219ENST00000470056Q14C86
ENSG00000165219ENST00000470056A0A024R875
ENSG00000165219ENST00000495955Q14C86
ENSG00000165219ENST00000497580B4DGD8

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444987Multiple SclerosisDiseaseClinicalAnnotationassociatedPD27001119
PA450037interferon beta-1aChemicalClinicalAnnotationassociatedPD27001119
PA450039interferon beta-1bChemicalClinicalAnnotationassociatedPD27001119

References

Pubmed IDYearTitleCitations
175451482007GAPex-5 mediates ubiquitination, trafficking, and degradation of epidermal growth factor receptor.17
313587362019SPIN90, an adaptor protein, alters the proximity between Rab5 and Gapex5 and facilitates Rab5 activation during EGF endocytosis.0

Citation

Dessen P

GAPVD1 (GTPase activating protein and VPS9 domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54323/gapvd1