RASA1

GENE INFORMATION

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Gene name

RASA1 (HGNC Symbol)

Synonyms

CM-AVM, GAP, p120GAP, p120RASGAP, RASA

Description

RAS p21 protein activator (GTPase activating protein) 1 (HGNC Symbol)

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]

Chromosome

5

Cytoband

q14.3

Chromosome location (bp)

86563705 - 86687748

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000145715 (version 75.37)

Entrez gene

5921

UniProt

P20936 (UniProt - Evidence at protein level)

neXtProt

NX_P20936

Antibodypedia

RASA1 antibodies
 

PROTEIN VIEW

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RASA1-001
 
RASA1-002
 
RASA1-003
 
RASA1-004
 
RASA1-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RASA1-001 ENSP00000274376
ENST00000274376
P20936
Show all »
Show » Show » 1047 116.4 No 0
RASA1-002 ENSP00000411221
ENST00000456692
P20936
Show all »
Show » Show » 870 100.4 No 0
RASA1-003 ENSP00000420905
ENST00000506290
E9PGC0
Show all »
Show » Show » 881 101.8 No 0
RASA1-004 ENSP00000422008
ENST00000512763
B4DTL2
Show all »
Show » Show » 880 101.5 No 0
RASA1-005 ENSP00000423395
ENST00000515800
Q68CU6
Show all »
Show » Show » 539 58 No 0