ARFGAP1

ADP-ribosylation factor GTPase-activating protein 1 is an enzyme that in humans is encoded by the ARFGAP1 gene.^[5][6] Two transcript variants encoding different isoforms have been found for this gene.

ARFGAP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3O47, 3DWD
Identifiers
Aliases	ARFGAP1, ARF1GAP, HRIHFB2281, ADP ribosylation factor GTPase activating protein 1
External IDs	OMIM: 608377; MGI: 2183559; HomoloGene: 5517; GeneCards: ARFGAP1; OMA:ARFGAP1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.33 Start 63,272,785 bp[1] End 63,289,790 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H4|2 103.53 cM Start 180,609,018 bp[2] End 180,624,319 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary gastric mucosa stromal cell of endometrium right hemisphere of cerebellum right uterine tube right lobe of thyroid gland body of uterus canal of the cervix left lobe of thyroid gland right ovary Top expressed in fossa internal carotid artery condyle external carotid artery dentate gyrus of hippocampal formation granule cell primary visual cortex superior frontal gyrus neural layer of retina otic vesicle gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding GTPase activator activity protein binding Cellular component cytoplasm synapse Golgi apparatus cytosol postsynaptic density Golgi membrane Biological process endoplasmic reticulum to Golgi vesicle-mediated transport regulation of endocytosis IRE1-mediated unfolded protein response retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum protein transport vesicle-mediated transport positive regulation of GTPase activity regulation of ARF protein signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55738 228998 Ensembl ENSG00000101199 ENSMUSG00000027575 UniProt Q8N6T3 Q9EPJ9 RefSeq (mRNA) NM_001281482 NM_001281483 NM_001281484 NM_018209 NM_175609 NM_001177706 NM_001177707 NM_001177708 NM_001177709 NM_001177710 NM_145760 NM_001363035 NM_001363036 NM_001363037 NM_001374670 RefSeq (protein) NP_001268411 NP_001268412 NP_001268413 NP_060679 NP_783202 NP_001171177 NP_001171178 NP_001171179 NP_001171180 NP_001171181 NP_665703 NP_001349964 NP_001349965 NP_001349966 NP_001361599 Location (UCSC) Chr 20: 63.27 – 63.29 Mb Chr 2: 180.61 – 180.62 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is a GTPase-activating protein (GAP) which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1 (ARF1). The encoded protein promotes hydrolysis of ARF1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinositides and inhibited by phosphatidylcholine.^[6]

The protein has two amphipathic lipid packing sensor motifs (ALPS), that let the protein sense the curvature of the membrane (<30 nm) or lipid packing defects, and in this way evaluate if the vesicle is mature and ready for coat disassembly.^[7][8]

Interactions

ARFGAP1 has been shown to interact with KDELR1 and LRRK2.^[9][10][11]