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Aliases for RASA1 Gene

Aliases for RASA1 Gene

  • RAS P21 Protein Activator (GTPase Activating Protein) 1 2 3
  • GAP 3 4 6
  • P120GAP 3 4
  • RASGAP 3 4
  • CMAVM 3 6
  • RASA 3 4
  • PKWS 3 6
  • Capillary Malformation-Arteriovenous Malformation 2
  • Triphosphatase-Activating Protein 3
  • Ras GTPase-Activating Protein 1 3
  • GTPase-Activating Protein 4
  • Ras P21 Protein Activator 4
  • P120RASGAP 3
  • CM-AVM 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 Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include phospholipid 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

Start:
87,267,888 bp from pter
End:
87,391,931 bp from pter
Size:
124,044 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RASA1 Gene

Domains for RASA1 Gene

Gene Families for RASA1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • SH2D :SH2 domain containing

Graphical View of Domain Structure for InterPro Entry

P20936

UniProtKB/Swiss-Prot:

RASA1_HUMAN :
  • P20936
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 Targeting 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 2
endoplasmic reticulum 1
endosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RASA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005622 intracellular --
GO:0005737 cytoplasm NAS 2821624
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with RASA1: view

Pathways for RASA1 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for RASA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis ISS --
GO:0001570 vasculogenesis ISS --
GO:0001953 negative regulation of cell-matrix adhesion IDA 8344248
GO:0007162 negative regulation of cell adhesion IDA 8344248
GO:0007165 signal transduction IDA 1756860
genes like me logo Genes that share ontologies with RASA1: view

Compounds for RASA1 Gene

(13) Novoseek inferred chemical compound relationships for RASA1 Gene

Compound -log(P) Hits PubMed IDs
gtp 72.9 18
tyrosine 69.4 55
gdp 58.1 4
phosphotyrosine 53.4 2
guanine 27.4 1
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

Primer Products

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

Protein differential expression in normal tissues for RASA1 Gene

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

Integrated Proteomics: protein expression 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 expressions with RASA1: view

Expression partners for RASA1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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

Selected 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
rs381212 -- 87,288,165(-) gtgta(C/T)atata intron-variant
rs387791 -- 87,288,095(-) tatat(A/C)tatgg intron-variant
rs388340 -- 87,289,003(+) ATATC(A/G)TCAGT intron-variant
rs393134 -- 87,340,354(+) GTAAA(A/C)CTCTT intron-variant
rs398463 -- 87,289,887(-) tcatg(C/T)ctgtg intron-variant

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

Relevant External Links for RASA1 Gene

HapMap Linkage Disequilibrium report
RASA1
Human Gene Mutation Database (HGMD)
RASA1
Locus Specific Mutation Databases (LSDB)
RASA1

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

Disorders for RASA1 Gene

(3) OMIM Diseases for RASA1 Gene (139150)

UniProtKB/Swiss-Prot

RASA1_HUMAN
  • Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for RASA1 Gene

(12) Novoseek inferred disease relationships for RASA1 Gene

Disease -log(P) Hits PubMed IDs
neurofibromatosis type 1 75.4 6
trophoblastic tumor 47.5 3
myeloid leukemia chronic 37.7 1
neurofibromatosis 37.3 2
choriocarcinoma 27.4 1

Relevant External Links for RASA1

Genetic Association Database (GAD)
RASA1
Human Genome Epidemiology (HuGE) Navigator
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. Purification, characterization, and cellular localization of the 100- kDa human placental GTPase-activating protein. (PMID: 8360177) Zhang Y. … Thane M.N. (J. Biol. Chem. 1993) 3 4 23
  2. Src-induced phosphorylation of caveolin-2 on tyrosine 19. Phospho- caveolin-2 (Tyr(P)19) is localized near focal adhesions, remains associated with lipid rafts/caveolae, but no longer forms a high molecular mass hetero-oligomer with caveolin-1. (PMID: 12091389) Lee H. … Lisanti M.P. (J. Biol. Chem. 2002) 3 4 23
  3. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (PMID: 14639529) Eerola I. … Vikkula M. (Am. J. Hum. Genet. 2003) 3 4 23
  4. Differential actions of p60c-Src and Lck kinases on the Ras regulators p120-GAP and GDP/GTP exchange factor CDC25Mm. (PMID: 11389730) Giglione C. … Parmeggiani A. (Eur. J. Biochem. 2001) 3 4 23
  5. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. (PMID: 18363760) Hershkovitz D. … Lapidot M. (Br. J. Dermatol. 2008) 3 23

Products for RASA1 Gene

  • Addgene plasmids for RASA1

Sources for RASA1 Gene

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