InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: RASA1

Summary

InnateDB Gene

IDBG-32785.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RASA1

Gene Name

RAS p21 protein activator (GTPase activating protein) 1

Synonyms

CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP

Species

Homo sapiens

Ensembl Gene

ENSG00000145715

Encoded Proteins

IDBP-32787

RAS p21 protein activator (GTPase activating protein) 1

IDBP-373048

RAS p21 protein activator (GTPase activating protein) 1

IDBP-484587

RAS p21 protein activator (GTPase activating protein) 1

IDBP-484627

RAS p21 protein activator (GTPase activating protein) 1

IDBP-476766

RAS p21 protein activator (GTPase activating protein) 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:87267888-87391931

Strand

Forward strand

Band

q14.3

Transcripts

ENST00000274376	ENSP00000274376
ENST00000456692	ENSP00000411221
ENST00000515800	ENSP00000423395
ENST00000506290	ENSP00000420905
ENST00000512763	ENSP00000422008
ENST00000509953

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 103 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	103 [view]
Protein-Protein	100 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001948	glycoprotein binding
GO:0005096	GTPase activator activity
GO:0005099	Ras GTPase activator activity
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0019870	potassium channel inhibitor activity
GO:0051020	GTPase binding

Biological Process

GO:0000281	mitotic cytokinesis
GO:0001570	vasculogenesis
GO:0001953	negative regulation of cell-matrix adhesion
GO:0007162	negative regulation of cell adhesion
GO:0007165	signal transduction
GO:0008360	regulation of cell shape
GO:0009790	embryo development
GO:0030833	regulation of actin filament polymerization
GO:0032320	positive regulation of Ras GTPase activity
GO:0035556	intracellular signal transduction
GO:0043524	negative regulation of neuron apoptotic process
GO:0043547	positive regulation of GTPase activity
GO:0046580	negative regulation of Ras protein signal transduction
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0051252	regulation of RNA metabolic process

Cellular Component

GO:0001726	ruffle
GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane