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RASA1 RAS p21 protein activator (GTPase activating protein) 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_022650 Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA. Full Length $1314.95
ORF Sequence $757.77
NM_002890 Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA. Full Length $1507.45
ORF Sequence $1100.40


Gene Symbol RASA1
Entrez Gene ID 5921
Full Name RAS p21 protein activator (GTPase activating protein) 1
Synonyms CM-AVM, CMAVM, DKFZp434N071, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q13.3
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. 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].
Disorder

MIM: 139150

Parkes Weber slndrome, 608355 (3); Capillary
mRNA NM_022650, 12545405
Protein NP_072179, 12545406
Product ras GTPase-activating protein 1 isoform 2
RefSeq Status REVIEWED
mRNA NM_002890, 4506430
Protein NP_002881, 4506431
Product ras GTPase-activating protein 1 isoform 1
RefSeq Status REVIEWED
KEGG
hsa04010MAPK signaling pathway
hsa04360Axon guidance
WikiPathways
WP581EPO Receptor Signaling
WP437EGFR1 Signaling Pathway
WP313Signaling of Hepatocyte Growth Factor Receptor
WP23B Cell Receptor Signaling Pathway
WP395IL-4 signaling Pathway
WP382MAPK signaling pathway
WP69T Cell Receptor Signaling Pathway
WP304Kit Receptor Signaling Pathway
Pathway Interaction Database
bcr_5pathwayBCR signaling pathway
vegfr1_pathwayVEGFR1 specific signals
fak_pathwaySignaling events mediated by focal adhesion kinase
ret_pathwaySignaling events regulated by Ret tyrosine kinase
pdgfrbpathwayPDGFR-beta signaling pathway
angiopoietinreceptor_pathwayAngiopoietin receptor Tie2-mediated signaling
insulin_pathwayInsulin Pathway
syndecan_2_pathwaySyndecan-2-mediated signaling events
il2_1pathwayIL2-mediated signaling events
erbb1_receptor_proximal_pathwayEGF receptor (ErbB1) signaling pathway
aurora_a_pathwayAurora A signaling
trkrpathwayNeurotrophic factor-mediated Trk receptor signaling
fcer1pathwayFc-epsilon receptor I signaling in mast cells
ephbfwdpathwayEPHB forward signaling
aurora_b_pathwayAurora B signaling
Reactome
REACT_17025Down-stream signal transduction
REACT_16888Signaling by PDGF
Homo sapiens (human)RASA1NP_002881.1
Pan troglodytes (chimpanzee)RASA1XP_517663.2
Canis lupus familiaris (dog)RASA1XP_536302.2
Bos taurus (cattle)RASA1NP_776874.1
Mus musculus (house mouse)Rasa1NP_663427.1
Rattus norvegicus (Norway rat)Rasa1NP_037267.1
Gallus gallus (chicken)RASA1XP_424907.2
Danio rerio (zebrafish)rasa1XP_001342009.1
Drosophila melanogaster (fruit fly)vapNP_996482.1
Process
IDNameEvidence
GO:0000910cytokinesisISS
GO:0001570vasculogenesisISS
GO:0001953negative regulation of cell-matrix adhesionIDA
GO:0007162negative regulation of cell adhesionIDA
GO:0007165signal transductionIDA
GO:0008360regulation of cell shapeNAS
GO:0009790embryo developmentISS
GO:0030833regulation of actin filament polymerizationIDA
GO:0032320positive regulation of Ras GTPase activityISS
GO:0032320positive regulation of Ras GTPase activityTAS
GO:0035556intracellular signal transductionNAS
GO:0043524negative regulation of neuron apoptosisISS
GO:0045768positive regulation of anti-apoptosisIDA
GO:0046580negative regulation of Ras protein signal transductionISS
GO:0051056regulation of small GTPase mediated signal transductionIEA
GO:0051252regulation of RNA metabolic processNAS
Component
IDNameEvidence
GO:0001726ruffleIEA
GO:0005622intracellularIEA
GO:0005737cytoplasmISS
GO:0005737cytoplasmNAS
GO:0005829cytosolTAS
GO:0005886plasma membraneIEA
GO:0031235intrinsic to internal side of plasma membraneISS
Function
IDNameEvidence
GO:0001948glycoprotein bindingIPI
GO:0005099Ras GTPase activator activityISS
GO:0005102receptor bindingIPI
GO:0005515protein bindingIPI
GO:0019870potassium channel inhibitor activityNAS
GO:0051020GTPase bindingIPI
GeneCards RASA1
PDB 2GQI, 2J05, 2J06, 2GSB, 1WER, 1WQ1
UniProt P20936
MIM 139150
Ensembl ENSG00000145715
HGNC 9871
HPRD 00745

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