RAB3GAP1 information

RAB3GAP1
Identifiers
Aliases	RAB3GAP1, P130, RAB3GAP, RAB3GAP130, WARBM1, RAB3 GTPase activating protein catalytic subunit 1, MARTS2
External IDs	OMIM: 602536; MGI: 2445001; HomoloGene: 45617; GeneCards: RAB3GAP1; OMA:RAB3GAP1 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	135,176,667 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	127,871,605 bp
RNA expression pattern
	Top expressed in
	hair follicle; ; Brodmann area 23; ; secondary oocyte; ; endothelial cell; ; middle temporal gyrus; ; visceral pleura; ; tibia; ; pars reticulata; ; parietal pleura; ; entorhinal cortex;
	Top expressed in
	interventricular septum; ; ventromedial nucleus; ; morula; ; lateral septal nucleus; ; visual cortex; ; primary oocyte; ; mammillary body; ; gastrula; ; median eminence; ; vestibular membrane of cochlear duct;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	guanyl-nucleotide exchange factor activity; GTPase activator activity; protein binding;
Cellular component	cytoplasm; Golgi apparatus; lipid droplet; endoplasmic reticulum tubular network; extracellular exosome; endoplasmic reticulum membrane; postsynapse; cytosol; protein-containing complex;
Biological process	positive regulation of autophagosome assembly; lipid droplet organization; regulation of GTPase activity; positive regulation of protein lipidation; brain development; positive regulation of gene expression; positive regulation of endoplasmic reticulum tubular network organization; hypothalamus development; establishment of protein localization to endoplasmic reticulum membrane; camera-type eye development; face morphogenesis; positive regulation of GTPase activity; positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization; excitatory postsynaptic potential; regulation of short-term neuronal synaptic plasticity; regulation of calcium ion-dependent exocytosis of neurotransmitter;
	Sources:Amigo / QuickGO
Orthologs
	22930
	226407
	ENSG00000115839
	ENSMUSG00000036104
	Q15042
	Q80UJ7
	NM_001172435; NM_012233
	NM_178690
	NP_001165906; NP_036365
	NP_848805; NP_001389242
	Wikidata
View/Edit Human	View/Edit Mouse

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000115839 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036104 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y (Feb 1997). "Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins". The Journal of Biological Chemistry. 272 (8): 4655–4658. doi:10.1074/jbc.272.8.4655. PMID 9030515.
^ Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER (Mar 2005). "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nature Genetics. 37 (3): 221–223. doi:10.1038/ng1517. PMID 15696165. S2CID 7561087.
^ "Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000115839 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036104 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9030515-5] Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y (Feb 1997). "Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins". The Journal of Biological Chemistry. 272 (8): 4655–4658. doi:10.1074/jbc.272.8.4655. PMID 9030515.

[pmid15696165-6] Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER (Mar 2005). "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nature Genetics. 37 (3): 221–223. doi:10.1038/ng1517. PMID 15696165. S2CID 7561087.

[entrez-7] "Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)".

RAB3GAP1 information

and 9 Related for: RAB3GAP1 information

RAB3GAP1

Microphthalmia

Warburg Micro syndrome

RAB18

Ciliopathy

Syndromic microphthalmia

Housekeeping gene

RAB3GAP2

List of OMIM disorder codes