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Aliases for RASA1 Gene

Aliases for RASA1 Gene

  • RAS P21 Protein Activator (GTPase Activating Protein) 1 2 3
  • P120GAP 3 4
  • RASGAP 3 4
  • RASA 3 4
  • GAP 3 4
  • Capillary Malformation-Arteriovenous Malformation 2
  • Triphosphatase-Activating Protein 3
  • GTPase-Activating Protein 4
  • Ras P21 Protein Activator 4
  • P120RASGAP 3
  • CM-AVM 3
  • CMAVM 3
  • PKWS 3

External Ids for RASA1 Gene

Previous HGNC Symbols for RASA1 Gene

  • RASA

Previous GeneCards Identifiers for RASA1 Gene

  • GC05P085479
  • GC05P086779
  • GC05P086602
  • GC05P086648
  • GC05P086599
  • GC05P081768
  • GC05P086565

Summaries for RASA1 Gene

Entrez Gene Summary for RASA1 Gene

  • 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]

GeneCards Summary for RASA1 Gene

RASA1 (RAS P21 Protein Activator (GTPase Activating Protein) 1) is a Protein Coding gene. Diseases associated with RASA1 include parkes weber syndrome and capillary malformation-arteriovenous malformation. Among its related pathways are MAPK signaling pathway and Immune System. GO annotations related to this gene include receptor binding and glycoprotein binding. An important paralog of this gene is RASA2.

UniProtKB/Swiss-Prot for RASA1 Gene

  • 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.

Gene Wiki entry for RASA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASA1 Gene

Genomics for RASA1 Gene

Regulatory Elements for RASA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RASA1 Gene

Chromosome:
5
Start:
87,267,801 bp from pter
End:
87,391,931 bp from pter
Size:
124,131 bases
Orientation:
Plus strand

Genomic View for RASA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RASA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASA1 Gene

Proteins for RASA1 Gene

  • Protein details for RASA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20936-RASA1_HUMAN
    Recommended name:
    Ras GTPase-activating protein 1
    Protein Accession:
    P20936
    Secondary Accessions:
    • B2R6W3
    • B4DTL2
    • Q68CU6
    • Q9UDI1

    Protein attributes for RASA1 Gene

    Size:
    1047 amino acids
    Molecular mass:
    116403 Da
    Quaternary structure:
    • Interacts with SQSTM1. Interacts with SPSB1; the interaction does not promote degradation. Interacts with CAV2 (tyrosine phosphorylated form). Directly interacts with NCK1. Interacts with PDGFRB (tyrosine phosphorylated). Interacts (via SH2 domain) with the Tyr-9 phosphorylated form of PDPK1.

    Three dimensional structures from OCA and Proteopedia for RASA1 Gene

    Alternative splice isoforms for RASA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASA1 Gene

Proteomics data for RASA1 Gene at MOPED

Post-translational modifications for RASA1 Gene

  • Phosphorylated by SRC and LCK. The phosphorylation SRC inhibits its ability to stimulate the Ras-GTPase activity, whereas phosphorylation by LCK does not display any effect on stimulation activity.
  • The N-terminus is blocked
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RASA1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for RASA1

No data available for DME Specific Peptides for RASA1 Gene

Domains & Families for RASA1 Gene

Graphical View of Domain Structure for InterPro Entry

P20936

UniProtKB/Swiss-Prot:

RASA1_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
  • Contains 1 PH domain.
  • Contains 1 Ras-GAP domain.
  • Contains 2 SH2 domains.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with RASA1: view

Function for RASA1 Gene

Molecular function for RASA1 Gene

GENATLAS Biochemistry:
Ras-p21 GTPase-activating protein,120kDa,GAP,involved in normal blood vessel development
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for RASA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 8618896
GO:0005096 GTPase activator activity EXP --
GO:0005102 receptor binding IPI 2157284
GO:0005515 protein binding IPI 1314164
GO:0019870 potassium channel inhibitor activity NAS 1553544
genes like me logo Genes that share ontologies with RASA1: view
genes like me logo Genes that share phenotypes with RASA1: view

Animal Models for RASA1 Gene

MGI Knock Outs for RASA1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RASA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RASA1 Gene

Localization for RASA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASA1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RASA1 Gene COMPARTMENTS Subcellular localization image for RASA1 gene
Compartment Confidence
cytosol 4
plasma membrane 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RASA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm NAS 2821624
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane IBA --
genes like me logo Genes that share ontologies with RASA1: view

Pathways & Interactions for RASA1 Gene

SuperPathways for RASA1 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 EPH-Ephrin signaling
3 Immune response IL-23 signaling pathway
4 MAPK signaling pathway
5 Immune System
genes like me logo Genes that share pathways with RASA1: view

PCR Array Products

SIGNOR curated interactions for RASA1 Gene

Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RASA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000281 mitotic cytokinesis ISS --
GO:0001570 vasculogenesis ISS --
GO:0001953 negative regulation of cell-matrix adhesion IDA 8344248
genes like me logo Genes that share ontologies with RASA1: view

Drugs & Compounds for RASA1 Gene

(9) Drugs for RASA1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanine Experimental Pharma 0
Guanosine Experimental Pharma 0
arachidonic acid Experimental Nutra Potentiation, Activator 27
alanine Nutra 97
arginine Nutra 346

(4) Additional Compounds for RASA1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gdp
gtp
Partial agonist, Agonist
Phosphatidylinositol
Phosphotyrosine
genes like me logo Genes that share compounds with RASA1: view

Transcripts for RASA1 Gene

Unigene Clusters for RASA1 Gene

RAS p21 protein activator (GTPase activating protein) 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RASA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8: -
SP9:
SP10:
SP11:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for RASA1 Gene

GeneLoc Exon Structure for
RASA1
ECgene alternative splicing isoforms for
RASA1

Expression for RASA1 Gene

mRNA expression in normal human tissues for RASA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RASA1 Gene

This gene is overexpressed in Placenta (25.8) and Peripheral blood mononuclear cells (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RASA1 Gene



SOURCE GeneReport for Unigene cluster for RASA1 Gene Hs.664080

mRNA Expression by UniProt/SwissProt for RASA1 Gene

P20936-RASA1_HUMAN
Tissue specificity: In placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level).
genes like me logo Genes that share expression patterns with RASA1: view

Protein tissue co-expression partners for RASA1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RASA1 Gene

Orthologs for RASA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RASA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RASA1 35
  • 92.35 (n)
  • 95.01 (a)
RASA1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASA1 35
  • 94.6 (n)
  • 98.81 (a)
RASA1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasa1 35
  • 90.75 (n)
  • 94.99 (a)
Rasa1 16
Rasa1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RASA1 35
  • 99.68 (n)
  • 99.71 (a)
RASA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasa1 35
  • 91.27 (n)
  • 95.09 (a)
oppossum
(Monodelphis domestica)
Mammalia RASA1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASA1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASA1 35
  • 84.84 (n)
  • 93.77 (a)
-- 36
  • 90 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RASA1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135092 35
  • 80.29 (n)
  • 90.53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28565 35
zebrafish
(Danio rerio)
Actinopterygii rasa1a 35
  • 74.15 (n)
  • 86.67 (a)
rasa1a 36
  • 81 (a)
OneToMany
rasa1b 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta vap 37
  • 46 (a)
vap 35
  • 52.41 (n)
  • 48.85 (a)
vap 36
  • 46 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002729 35
  • 51.88 (n)
  • 48.74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD2 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5448 36
  • 51 (a)
OneToOne
Species with no ortholog for RASA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RASA1 Gene

ENSEMBL:
Gene Tree for RASA1 (if available)
TreeFam:
Gene Tree for RASA1 (if available)

Paralogs for RASA1 Gene

Paralogs for RASA1 Gene

(4) SIMAP similar genes for RASA1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RASA1: view

Variants for RASA1 Gene

Sequence variations from dbSNP and Humsavar for RASA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
VAR_002650 Basal cell carcinomas
VAR_002651 Basal cell carcinomas
VAR_002652 Basal cell carcinomas
VAR_017744 Capillary malformation-arteriovenous malformation (CMAVM)
VAR_072088 Capillary malformation-arteriovenous malformation (CMAVM)

Structural Variations from Database of Genomic Variants (DGV) for RASA1 Gene

Variant ID Type Subtype PubMed ID
nsv830379 CNV Gain 17160897
nsv327831 CNV Loss 16902084

Variation tolerance for RASA1 Gene

Residual Variation Intolerance Score: 11.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RASA1 Gene

HapMap Linkage Disequilibrium report
RASA1
Human Gene Mutation Database (HGMD)
RASA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASA1 Gene

Disorders for RASA1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for RASA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
parkes weber syndrome
  • cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb
capillary malformation-arteriovenous malformation
  • capillary malformation-arteriovenous malformation syndrome
parkes weber syndrome, rasa1-related
rasa1-related disorders
arteriovenous malformation
  • racemose angioma
- elite association
Search RASA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RASA1_HUMAN
  • Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]: A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. {ECO:0000269 PubMed:14639529, ECO:0000269 PubMed:24038909}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.
  • Parkes Weber syndrome (PKWS) [MIM:608355]: Disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RASA1

Genetic Association Database (GAD)
RASA1
Human Genome Epidemiology (HuGE) Navigator
RASA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RASA1
genes like me logo Genes that share disorders with RASA1: view

No data available for Genatlas for RASA1 Gene

Publications for RASA1 Gene

  1. p120-Ras GTPase activating protein (RasGAP): a multi-interacting protein in downstream signaling. (PMID: 19022332) Pamonsinlapatham P. … Raynaud F. (Biochimie 2009) 23 67
  2. Inactivation of Ras by p120GAP via focal adhesion kinase dephosphorylation mediates RGMa-induced growth cone collapse. (PMID: 19458235) Endo M. … Yamashita T. (J. Neurosci. 2009) 23 67
  3. Annexin A6 inhibits Ras signalling in breast cancer cells. (PMID: 18850003) VilA! de Muga S. … Grewal T. (Oncogene 2009) 23 67
  4. Solubility survey of fragments of the neurofibromatosis type 1 protein neurofibromin. (PMID: 19111619) Bonneau F. … Scheffzek K. (Protein Expr. Purif. 2009) 23 67
  5. Essential roles for Dok2 and RasGAP in CD200 receptor-mediated regulation of human myeloid cells. (PMID: 19786546) Mihrshahi R. … Brown M.H. (J. Immunol. 2009) 23 67

Products for RASA1 Gene

Sources for RASA1 Gene

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