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FLASH GENE

Symbol

RAP1GAP

contributors: mct/shn - updated : 12-07-2012

HGNC name	RAP1 GTPase activating protein
HGNC id	9858

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p36.12      Physical location : 21.922.708 - 21.995.856
Synonym name	RAP1, GTPase activating protein 1
	rap1 GTPase-activating protein 1
Synonym symbol(s)	KIAA0474, RAP1GA1, RAP1GAPII, RAP1GAP1, RAPGAP

DNA

TYPE	functioning gene
STRUCTURE	73.15 kb     27 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D1S3720 - D1S334 - RAP1GAP - D1S2725 - D1S2702 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002885 25 - 3334 NP_002876 73.2 663 - Weiss (1994) NM_001145657 27 - 3495 NP_001139129 75.06 681 - Weiss (1994) NM_001145658 25 - 3301 NP_001139130 80.5 727 - Weiss (1994)

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 stomach       highly Endocrine neuroendocrine pituitary     highly   thyroid       highly Nervous brain forebrain cerebral cortex   highly Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a GOLOCO domain
	a rap-gap domain
	a catalytic domain from amino acids 75 to 416

HOMOLOGY

interspecies	ortholog to Rap1GAP, Mus musculus
	ortholog to Rap1GAP, Rattus norvegicus
	ortholog to rap1gap, Danio rerio
	ortholog to RAP1GAP, Pan troglodytes

Homologene

FAMILY

GTP binding protein family

CATEGORY

regulatory , signaling neurotransmitter

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	provides a catalytic asparagine to stimulate GTP hydrolysis
	GTPase activator for the nuclear ras-related regulatory protein RAP1A (krev-1), converting it to the putatively inactive GDP-bound state
	putative tumor suppressor gene in pancreatic cancer
	involved in the signal transduction of myelin-associated glycoprotein (MAG)
	implicated as a putative tumor/invasion suppressor in the thyroid (Tsygankova 2007)
	functions by switching off RAP1, the Ras-like protein that has been associated with carcinogenesis (Mitra 2008)
	inhibits tumor growth but induces MMP2- and MMP9-mediated squamous cell carcinoma (SCC) invasion and tumor progression, suggesting a role for this protein as a biomarker for early N-stage, aggressive SCCs (Mitra 2008)
	important regulator of retinal pigment epithelial cell junctions, and required for maintenance of barrier function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	regulates integrin-mediated cell adhesion

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	alpha-subunits of the G(i) family of heterotrimeric G-protein
	Galpha(z)
	target of oncogenic Ras (Tsygankova 2007)
	RET and suppresses GDNF-induced neurite outgrowth
	MEX3B regulate the cortical level of activated RAP1A, a small G protein controlling phagocytosis and cell-cell interaction, through the activation and transport of RAP1GAP

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in pancreatic cancer, in progression tumoral     --low   in papillary thyroid carcinomas (Nellore 2009)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Knockdown of Rap1 or inhibition of its activity in retinal pigment epithelium reduces Transepithelial electrical resistance and electrical impedance of the retinal pigment epithelial monolayers