RASA1 (RAS p21 protein activator (GTPase activating protein) 1)

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Keyword

Gene: RASA1 (RAS p21 protein activator (GTPase activating protein) 1) Homo sapiens

Symbol:

RASA1

Name:

RAS p21 protein activator (GTPase activating protein) 1

Description:

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

CM-AVM; CMAVM; DKFZp434N071; GAP; GTPase-activating protein; OTTHUMP00000222390; OTTHUMP00000222391; OTTHUMP00000222392; OTTHUMP00000222393; p120GAP; p120RASGAP; PKWS; ras GTPase-activating protein 1; ras p21 protein activator 1; RASA; RASGAP; triphosphatase-activating protein

Orthologs:

Mus musculus : Rasa1 (RAS p21 protein activator 1) MGI
Rattus norvegicus : Rasa1 (RAS p21 protein activator (GTPase activating protein) 1)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	5	86,849,090 - 86,972,761	+	NCBI
Human Genome Assembly HuRef	5	81,768,403 - 81,891,908	+	NCBI
Human Genome Assembly GRCh37	5	86,564,070 - 86,687,743	+	NCBI
Human Genome Assembly Build 36	5	86,599,907 - 86,723,489	+	NCBI
Human Cytogenetic Map	5	q13.3		NCBI
Human Genome Assembly	5	86,600,521 - 86,723,488		NCBI