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RASA1
HPA
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  • RASA1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

RASA1
Synonyms CM-AVM, GAP, p120, p120GAP, p120RASGAP, RASA
Gene descriptioni

Full gene name according to HGNC.

RAS p21 protein activator 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
RAS pathway related proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 5
Cytoband q14.3
Chromosome location (bp) 87267883 - 87391931
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

4
Ensembl ENSG00000145715 (version 109)
Entrez gene 5921
HGNC HGNC:9871
UniProt P20936 (UniProt - Evidence at protein level)
neXtProt NX_P20936
GeneCards RASA1
Antibodypedia RASA1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

GTPase activation
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
RASA1-201
ENSP00000274376
ENST00000274376
P20936
[Direct mapping] Ras GTPase-activating protein 1
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
RAS pathway related proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Cancers
   Skin cancers
   Congenital malformations
   Congenital malformations of the circulatory system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000281 [mitotic cytokinesis]
GO:0001570 [vasculogenesis]
GO:0001726 [ruffle]
GO:0001784 [phosphotyrosine residue binding]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0003924 [GTPase activity]
GO:0005096 [GTPase activator activity]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0007162 [negative regulation of cell adhesion]
GO:0007165 [signal transduction]
GO:0008360 [regulation of cell shape]
GO:0019870 [potassium channel inhibitor activity]
GO:0030833 [regulation of actin filament polymerization]
GO:0035556 [intracellular signal transduction]
GO:0043066 [negative regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
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:0048013 [ephrin receptor signaling pathway]
GO:0048514 [blood vessel morphogenesis]
GO:0050896 [response to stimulus]
GO:0051020 [GTPase binding]
GO:0051252 [regulation of RNA metabolic process]
Show all
1047 aa
116.4 kDa
No 0
RASA1-202
ENSP00000411221
ENST00000456692
P20936
[Direct mapping] Ras GTPase-activating protein 1
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
RAS pathway related proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Cancers
   Skin cancers
   Congenital malformations
   Congenital malformations of the circulatory system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000281 [mitotic cytokinesis]
GO:0001570 [vasculogenesis]
GO:0001784 [phosphotyrosine residue binding]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0003924 [GTPase activity]
GO:0005096 [GTPase activator activity]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007162 [negative regulation of cell adhesion]
GO:0007165 [signal transduction]
GO:0008360 [regulation of cell shape]
GO:0019870 [potassium channel inhibitor activity]
GO:0030833 [regulation of actin filament polymerization]
GO:0035556 [intracellular signal transduction]
GO:0043066 [negative regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
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:0048013 [ephrin receptor signaling pathway]
GO:0048514 [blood vessel morphogenesis]
GO:0050896 [response to stimulus]
GO:0051020 [GTPase binding]
GO:0051252 [regulation of RNA metabolic process]
Show all
870 aa
100.4 kDa
No 0
RASA1-203
ENSP00000420905
ENST00000506290
E9PGC0
[Direct mapping] Ras GTPase-activating protein 1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Skin cancers
   Congenital malformations
   Congenital malformations of the circulatory system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007165 [signal transduction]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0050896 [response to stimulus]
Show all
881 aa
101.8 kDa
No 0
RASA1-205
ENSP00000422008
ENST00000512763
P20936
[Direct mapping] Ras GTPase-activating protein 1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
RAS pathway related proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Cancers
   Skin cancers
   Congenital malformations
   Congenital malformations of the circulatory system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000281 [mitotic cytokinesis]
GO:0001570 [vasculogenesis]
GO:0001784 [phosphotyrosine residue binding]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0003924 [GTPase activity]
GO:0005096 [GTPase activator activity]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007162 [negative regulation of cell adhesion]
GO:0007165 [signal transduction]
GO:0008360 [regulation of cell shape]
GO:0019870 [potassium channel inhibitor activity]
GO:0030833 [regulation of actin filament polymerization]
GO:0035556 [intracellular signal transduction]
GO:0043066 [negative regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
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:0048013 [ephrin receptor signaling pathway]
GO:0048514 [blood vessel morphogenesis]
GO:0050896 [response to stimulus]
GO:0051020 [GTPase binding]
GO:0051252 [regulation of RNA metabolic process]
Show all
880 aa
101.5 kDa
No 0

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