Tbio RASA1 Ras GTPase-activating protein 1

Protein Summary

Description

Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1. 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]

Uniprot Accession IDs

• P20936
• B2R6W3
• B4DTL2
• Q68CU6
• Q9UDI1
• GAP

Gene Name

• RASA1

Ensembl ID

• ENST00000274376
• ENSP00000274376
• ENSG00000145715
• ENST00000456692
• ENSP00000411221
• ENST00000512763
• ENSP00000422008
• ENST00000515800
• ENSP00000423395

Symbol

• GAP
• RASA
• GAP
• PKWS
• RASA
• p120
• CMAVM
• CM-AVM
• CMAVM1
• RASGAP
• p120GAP
• p120RASGAP

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.97
hub protein	0.92
disease perturbation	0.9
histone modification site profile	0.85
transcription factor perturbation	0.8

Protein Classes

PANTHER Classes

Protein / Enzyme Modulator / G-protein Modulator / Ras Gtpase-activating Protein 1

DTO Classes

Protein / Enzyme Modulator / G-protein Modulator / Ras Gtpase-activating Protein 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 281.18   (req: < 5)

Gene RIFs: 98   (req: <= 3)

Antibodies: 477   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 281.18   (req: >= 5)

Gene RIFs: 98   (req: > 3)

Antibodies: 477   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 21

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0