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FLASH GENE

Symbol

ARHGAP1

contributors: mct/npt - updated : 30-09-2009

HGNC name	Rho GTPase activating protein 1
HGNC id	673

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	23.49 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D11S1361 - D11S1344 - ARHGAP1 - CD82 - SERPING1 - D11S1357 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004308 13 - 3372 isoform 1 - 439 - Lancaster (1994)

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 Cardiovascular heart       highly Digestive intestine small intestine     highly Endocrine pancreas       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a proline-rich, Src homology 3 (SH3) binding domain
	three consensus box regions characteristic of Rho GAP

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	regulating the basal apoptosis of cells through the JNK pathway
	promotes inactivation of CDC42, a small GTPase whose activation at the leading edge by guanine nucleotide exchange factors is critical for cell migration (Shen 2008)
	inhibitor of active-state small Rho GTPases and counter-regulatory mediator for tubule formation
	implicated in the regulation of cell motility, adhesion, proliferation, and apoptosis (Li 2009)
	regulates the vimentin network through the CDC42-PAK pathway in smooth muscle cells during 5-hydroxytryptamine stimulation (Li 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with NDL1 (NDLl and ARHGAP1 exhibit leading-edge localization in migrating cells)(Shen 2008)
	binds NDEL1 to modulate CDC42 activity at the leading edge of migrating cells (Shen 2008))

cell & other

REGULATION

Other

its activity is regulated upon contractile activation, which is mediated by intracellular ROS (Li 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in tubular microvascular endothelial cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cdc42GAP-/- mouse embryonic fibroblasts and/or tissues display reduced population doubling, significantly dampened DNA damage repair activity after DNA-damaging agent treatment, accumulated genomic abnormalities, and induction of p53, p16Ink4a, p21Cip1, and senescence-associated beta-galactosidase expressions (Wang 2007)