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FLASH GENE

Symbol

AGAP1

contributors: mct/npt - updated : 08-04-2015

HGNC name	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
HGNC id	16922

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	locus Control Region
STRUCTURE	637.71 kb     17 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_001037131 18 - 10868 NP_001032208 94.3 857 - 2012 22453919 NM_014914 17 - 10709 NP_055729 88.9 804 - 2012 22453919 NM_001244888 10 - 2180 NP_001231817 - 405 - 2012 22453919

EXPRESSION

Type

widely

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 intestine large intestine colon   highly   mouth tongue         pharynx       highly Nervous nerve       highly Reproductive female system breast mammary gland   highly Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ATP/GTP binding site motif A (P-loop)
	three ANK repeat
	a ARF-GAP domain
	a G-protein-like domain (GLD) with homology to Ras superfamily proteins
	a PH domain

HOMOLOGY

intraspecies

paralog to CENTG1

Homologene

FAMILY	RAS superfamily
	centaurin gamma-like family

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	small GTPase mediating PI3K related Arf signalling
	GTPase-activating protein for the adp ribosylation factor family
	potential role in integrating signals from ARF, NO/cGMP, and tyrosine kinase signaling pathways
	guanosine triphosphatase activating protein involved in the regulation of endosome function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	nuclear PI3K
	interacting with G protein-coupled receptor kinases
	associated with paxillin
	also interacts with PIX exchange factors
	associate with the adaptor protein complex AP-3 and regulate the function of AP-3 endosome
	direct physical interaction between CHRM5 and the AP-3 adaptor complex regulator AGAP1
	AGAP1 and AGAP2 can bind to RHOA

cell & other

REGULATION

Other

allosterically regulated through protein binding to the GLD domain

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to autism

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS