GAPVD1

GTPase activating protein and VPS9 domains 1, also known as GAPVD1, Gapex-5 and RME-6 is a protein which in humans is encoded by the GAPVD1 gene.^[5][6]

GAPVD1
Identifiers
Aliases	GAPVD1, GAPEX5, GAPex-5, RAP6, GTPase activating protein and VPS9 domains 1
External IDs	OMIM: 611714; MGI: 1913941; HomoloGene: 32637; GeneCards: GAPVD1; OMA:GAPVD1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q33.3 Start 125,261,794 bp[1] End 125,367,207 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 B Start 34,674,594 bp[2] End 34,755,232 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell nasal epithelium amniotic fluid palpebral conjunctiva skin of thigh mucosa of paranasal sinus Brodmann area 23 cartilage tissue visceral pleura middle temporal gyrus Top expressed in hand otolith organ utricle Rostral migratory stream superior cervical ganglion hair follicle stroma of bone marrow ciliary body foot conjunctival fornix More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GTPase activating protein binding GTPase activator activity guanyl-nucleotide exchange factor activity cadherin binding protein binding Cellular component endosome membrane cytosol Biological process regulation of GTPase activity endocytosis regulation of protein transport signal transduction positive regulation of GTPase activity membrane organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26130 66691 Ensembl ENSG00000165219 ENSMUSG00000026867 UniProt Q14C86 Q6PAR5 RefSeq (mRNA) NM_001282679 NM_001282680 NM_001282681 NM_015635 NM_001330777 NM_001330778 NM_001354293 NM_001354294 NM_001354295 NM_001354296 NM_001354297 NM_001354298 NM_001354299 NM_001354300 NM_001354301 NM_025709 NM_001356441 RefSeq (protein) NP_001269608 NP_001269609 NP_001269610 NP_001317706 NP_001317707 NP_056450 NP_001341222 NP_001341223 NP_001341224 NP_001341225 NP_001341226 NP_001341227 NP_001341228 NP_001341229 NP_001341230 NP_079985 NP_001343370 Location (UCSC) Chr 9: 125.26 – 125.37 Mb Chr 2: 34.67 – 34.76 Mb PubMed search [3] [4]
Wikidata
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Function

GAPVD1 is Rab GTPase guanine nucleotide exchange factor essential for activation of RAB5A during engulfment of apoptotic cells.^[7] GAPVD1 is also involved in the degradation of the epidermal growth factor receptor.^[8] Gapex-5 mediated activation of Rab5 has been implicated in the insulin stimulated formation of plasma membrane phosphatidylinositol-3-phosphate.^[9]

Structure

Based on sequence homology, mammalian Gapex-5 has been shown to have an amino-terminal Ras GAP domain, a central polyproline (SH3 binding) region and a carboxy-terminal Rab GEF domain. The RabGEF domain has been suggested to activate Rab5^[10] and Rab31.^[11]