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FLASH GENE

Symbol

RAB3GAP1

contributors: mct - updated : 29-04-2017

HGNC name	RAB3 GTPase activating protein subunit 1 (catalytic)
HGNC id	17063

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	118.45 kb     24 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001172435 25 - 4939 - 988 - 2003 12786944 NM_012233 24 - 4918 - 981 - 2003 12786944

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     highly Lymphoid/Immune lymph node       highly Reproductive female system uterus     highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a C terminal catalytic domain

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus

basic FUNCTION	involved in exocytosis and particularly in neurotransmitter release
	stimulating the GTPase activity of RAB3A and regulating synaptic transmission and plasticity by limiting the amount of the GTP-bound form of RAB3A
	with RAB3GAP2 encode the catalytic and noncatalytic subunits of the hetrodimeric enzyme RAB3GAP (RAB3GTPase-activating protein), a key regulator of the RAB3 cycle
	binding of VAPB to RAB3GAP1 is implicated in the regulation of nuclear envelope formation through ERGIC

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

exocytosis transport

PATHWAY

metabolism

signaling

a component

two subunits: the catalytic subunit p130 and the noncatalytic subunit p150

INTERACTION

DNA

RNA

small molecule

protein	VAPB directly binds to RAB3 GTPase activating protein 1 (RAB3GAP1), the catalytic subunit of RAB3GAP, through the two phenylalanines (FF) in an acidic tract (FFAT)-like motif of RAB3GAP1
	FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25, three genes with central roles in both exocytosis and endocytosis, responsible for extracellular trafficking

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WARBM1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       polymicrogyria

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS