Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RASA1 Gene

Aliases for RASA1 Gene

  • RAS P21 Protein Activator 1 2 3 5
  • RAS P21 Protein Activator (GTPase Activating Protein) 1 2 3
  • P120 RAS GTPase Activating Protein 2 3
  • P120GAP 3 4
  • RASA 3 4
  • GAP 3 4
  • 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
  • RASGAP 3
  • RasGAP 4
  • CMAVM 3
  • PKWS 3
  • P120 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]

CIViC summary for RASA1 Gene

GeneCards Summary for RASA1 Gene

RASA1 (RAS P21 Protein Activator 1) is a Protein Coding gene. Diseases associated with RASA1 include Capillary Malformation-Arteriovenous Malformation and Parkes Weber Syndrome. Among its related pathways are Immune response Fc epsilon RI pathway and EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is RASAL2.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for RASA1 Gene

Promoters and enhancers for RASA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J087266 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.7 686 3 PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 RASA1 GC05P087268 RPL10AP9 GC05P087279
GH05J088140 Enhancer 1.1 Ensembl ENCODE 11.9 +873.6 873561 1.7 HDGF PKNOX1 SIN3A ZNF2 YY1 GLIS2 ZNF143 KLF7 ZNF548 ZNF263 TMEM161B RASA1 LINC00461 MEF2C-AS2 MIR9-2 ENSG00000250377 ENSG00000250555 LOC105379070 GC05P088219
GH05J087228 Enhancer 0.5 FANTOM5 14.6 -39.0 -39025 0.7 ZBTB21 ATF2 PRDM1 RASA1 PIR58793 LINC01949 GC05M087119 LOC101929380
GH05J086643 Enhancer 0.6 ENCODE dbSUPER 4.3 -623.2 -623246 2.5 NANOG CTBP2 COX7C RASA1 GC05M086664 RNU6-804P PIR43647
GH05J087308 Enhancer 0.7 FANTOM5 Ensembl 2.4 +40.4 40395 0.4 CBFA2T3 EBF1 MEF2B RUNX3 RASA1 GC05M087300 RNU6-606P LOC644285
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RASA1 gene promoter:
  • NF-1
  • NF-1/L
  • PPAR-gamma1

Genomic Locations for RASA1 Gene

Genomic Locations for RASA1 Gene
chr5:87,267,801-87,391,931
(GRCh38/hg38)
Size:
124,131 bases
Orientation:
Plus strand
chr5:86,563,705-86,687,748
(GRCh37/hg19)
Size:
124,044 bases
Orientation:
Plus strand

Genomic View for RASA1 Gene

Genes around RASA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for RASA1 Gene

  • The N-terminus is blocked.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RASA1 Gene

No data available for DME Specific Peptides for RASA1 Gene

Domains & Families for RASA1 Gene

Gene Families for RASA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for RASA1 Gene

Function for RASA1 Gene

Molecular function for RASA1 Gene

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

Phenotypes From GWAS Catalog for RASA1 Gene

Gene Ontology (GO) - Molecular Function for RASA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IPI 20624904
GO:0003924 GTPase activity TAS --
GO:0005096 GTPase activator activity IEA,IBA --
GO:0005102 signaling receptor binding IPI 2157284
GO:0005515 protein binding IEA,IPI 1314164
genes like me logo Genes that share ontologies with RASA1: view
genes like me logo Genes that share phenotypes with RASA1: view

Human Phenotype Ontology for RASA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RASA1 Gene

MGI Knock Outs for RASA1:

Animal Model Products

Clone Products

  • Addgene plasmids for RASA1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RASA1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RASA1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RASA1 Gene

Pathways & Interactions for RASA1 Gene

SuperPathways for RASA1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Immune response IL-23 signaling pathway
3 EPH-Ephrin signaling
4 MAPK signaling pathway
5 Development EGFR signaling pathway
genes like me logo Genes that share pathways with RASA1: view

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: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
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RASA1: view

Transcripts for RASA1 Gene

mRNA/cDNA for RASA1 Gene

Unigene Clusters for RASA1 Gene

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

Clone Products

  • Addgene plasmids for RASA1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RASA1 Gene



Protein tissue co-expression partners for RASA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RASA1 Gene:

RASA1

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).

Evidence on tissue expression from TISSUES for RASA1 Gene

  • Nervous system(4)
  • Blood(2.4)
  • Skin(2.2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RASA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • skeletal muscle
  • skeleton
Regions:
Limb:
  • lower limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with RASA1: view

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
chimpanzee
(Pan troglodytes)
Mammalia RASA1 34 33
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RASA1 34 33
  • 94.6 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASA1 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RASA1 34 33
  • 92.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasa1 33
  • 91.27 (n)
mouse
(Mus musculus)
Mammalia Rasa1 16 34 33
  • 90.75 (n)
oppossum
(Monodelphis domestica)
Mammalia RASA1 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 90 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
RASA1 33
  • 84.84 (n)
lizard
(Anolis carolinensis)
Reptilia RASA1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135092 33
  • 80.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28565 33
zebrafish
(Danio rerio)
Actinopterygii rasa1a 34 33
  • 74.15 (n)
OneToMany
rasa1b 34
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta vap 34 35 33
  • 52.41 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002729 33
  • 51.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD2 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5448 34
  • 51 (a)
OneToOne
Species where no ortholog for RASA1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RASA1: view image

Paralogs for RASA1 Gene

Paralogs for RASA1 Gene

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

  • RASA1_HUMAN
  • B4DTL2_HUMAN
  • E9PGC0_HUMAN
  • Q05CU5_HUMAN
  • Q7Z4M2_HUMAN
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 Variation AA Info Type
rs1010729751 uncertain-significance, Capillary malformation-arteriovenous malformation 87,268,468(+) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1060503437 uncertain-significance, Capillary malformation-arteriovenous malformation 87,349,252(+) A/G coding_sequence_variant, missense_variant
rs1060503438 likely-pathogenic, Capillary malformation-arteriovenous malformation 87,385,390(+) G/A genic_downstream_transcript_variant, splice_donor_variant
rs1060503439 pathogenic, Capillary malformation-arteriovenous malformation 87,362,573(+) ACACA/ACA coding_sequence_variant, frameshift
rs1060503440 likely-pathogenic, Capillary malformation-arteriovenous malformation 87,389,522(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv3566244 CNV deletion 23714750
nsv1074853 CNV deletion 25765185
nsv1078560 CNV duplication 25765185
nsv327831 CNV deletion 16902084
nsv830379 CNV gain 17160897

Variation tolerance for RASA1 Gene

Residual Variation Intolerance Score: 11% 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)

Additional Variant Information for RASA1 Gene

Human Gene Mutation Database (HGMD)
RASA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for RASA1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for RASA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
capillary malformation-arteriovenous malformation
  • cmavm
parkes weber syndrome
  • pkws
basal cell carcinoma, multiple
  • multiple basal cell carcinoma
arteriovenous malformation
  • arteriovenous hemangioma
weber syndrome
  • midbrain stroke syndromes
- elite association - COSMIC cancer census association via MalaCards
Search RASA1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for RASA1

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

No data available for Genatlas for RASA1 Gene

Publications for RASA1 Gene

  1. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (PMID: 14639529) Eerola I … Vikkula M (American journal of human genetics 2003) 3 4 22 58
  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 MP (The Journal of biological chemistry 2002) 3 4 22 58
  3. 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 (European journal of biochemistry 2001) 3 4 22 58
  4. Purification, characterization, and cellular localization of the 100-kDa human placental GTPase-activating protein. (PMID: 8360177) Zhang Y … Beltchev B (The Journal of biological chemistry 1993) 3 4 22 58
  5. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. (PMID: 24038909) Revencu N … Vikkula M (Human mutation 2013) 3 4 58

Products for RASA1 Gene

Sources for RASA1 Gene

Content
Loading form....