RAS p21 protein activator 1

RASA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WER, 1WQ1, 2GQI, 2J05, 2J06, 2M51, 4FSS, 2GSB
Identifiers
Aliases	RASA1, CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP, RAS p21 protein activator 1, p120, CMAVM1
External IDs	OMIM: 139150 MGI: 97860 HomoloGene: 2168 GeneCards: RASA1
Gene location (Human) Chr. Chromosome 5 (human) Band 5q14.3 Start 87,267,883 bp End 87,391,931 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 C3|13 45.05 cM Start 85,362,899 bp End 85,437,249 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell placenta Brodmann area 23 middle temporal gyrus retinal pigment epithelium tibia Region I of hippocampus proper Brodmann area 46 parietal pleura corpus epididymis Top expressed in ganglionic eminence medial ganglionic eminence dermis thymus olfactory bulb left lung lobe atrium atrioventricular valve abdominal wall molar More reference expression data BioGPS More reference expression data
Gene ontology Molecular function potassium channel inhibitor activity protein binding GTPase binding signaling receptor binding GTPase activator activity phosphotyrosine residue binding GTPase activity Cellular component cytoplasm cytosol intrinsic component of the cytoplasmic side of the plasma membrane ruffle plasma membrane Biological process negative regulation of neuron apoptotic process negative regulation of cell adhesion intracellular signal transduction blood vessel morphogenesis ephrin receptor signaling pathway regulation of GTPase activity mitotic cytokinesis MAPK cascade negative regulation of Ras protein signal transduction negative regulation of cell-matrix adhesion vasculogenesis regulation of actin filament polymerization positive regulation of GTPase activity regulation of RNA metabolic process regulation of cell shape signal transduction negative regulation of apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5921 218397 Ensembl ENSG00000145715 ENSMUSG00000021549 UniProt P20936 E9PYG6 RefSeq (mRNA) NM_002890 NM_022650 NM_145452 RefSeq (protein) NP_002881 NP_072179 NP_663427 Location (UCSC) Chr 5: 87.27 – 87.39 Mb Chr 13: 85.36 – 85.44 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

RAS p21 protein activator 1 or RasGAP (Ras GTPase activating protein), also known as RASA1, is a 120-kDa cytosolic human protein that provides two principal activities:

• Inactivation of Ras from its active GTP-bound form to its inactive GDP-bound form by enhancing the endogenous GTPase activity of Ras, via its C-terminal GAP domain
• Mitogenic signal transmission towards downstream interacting partners through its N-terminal SH2-SH3-SH2 domains

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. 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.

Domains

RasGAP contains one SH3 domain and two SH2 domains, a PH domain, a C2 domain, and a GAP domain.

Interactions

RAS p21 protein activator 1 has been shown to interact with:

The mRNA can interact with Mir-132 microRNA; this process is linked to angiogenesis.

Disease database

RASA1 gene variant database

Further reading

External links

• GeneReviews/NCBI/NIH/UW entry on Capillary Malformation-Arteriovenous Malformation Syndrome and RASA1-Related Parkes Weber Syndrome
• OMIM entries in RASA1 related disorders