Gene Gene information from NCBI Gene database.
Entrez ID 5921
Gene name RAS p21 protein activator 1
Gene symbol RASA1
Synonyms (NCBI Gene)
CM-AVMCMAVMCMAVM1GAPPKWSRASARASGAPp120p120GAPp120RASGAP
Chromosome 5
Chromosome location 5q14.3
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 f
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs797044451 CT>- Pathogenic Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1057518367 G>A Likely-pathogenic 5 prime UTR variant, intron variant
rs1384480619 AG>- Pathogenic Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs1554038827 T>- Pathogenic Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs1580179449 CCCCTTTG>- Pathogenic Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
397
miRTarBase ID miRNA Experiments Reference
MIRT003988 hsa-miR-21-5p Luciferase reporter assayWestern blot 18372920
MIRT003230 hsa-miR-335-5p Luciferase reporter assay 20065103
MIRT007010 hsa-miR-132-3p ImmunoblotWestern blot 21868695
MIRT007292 hsa-miR-31-5p Luciferase reporter assayqRT-PCRWestern blot 23322774
MIRT024963 hsa-miR-214-3p Microarray;Other 19859982
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis ISS
GO:0001525 Process Angiogenesis IMP 30578106
GO:0001570 Process Vasculogenesis ISS
GO:0001726 Component Ruffle IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139150 9871 ENSG00000145715
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20936
Protein name Ras GTPase-activating protein 1 (GAP) (GTPase-activating protein) (RasGAP) (Ras p21 protein activator) (p120GAP)
Protein 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.
PDB 1WER , 1WQ1 , 2GQI , 2GSB , 2J05 , 2J06 , 2M51 , 4FSS , 6PXB , 6PXC , 6WAX , 6WAY , 8BOS , 8DGQ , 9BZ4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 181 256 SH2 domain Domain
PF00018 SH3_1 285 333 SH3 domain Domain
PF00017 SH2 351 426 SH2 domain Domain
PF00169 PH 475 577 PH domain Domain
PF00168 C2 594 692 C2 domain Domain
PF00616 RasGAP 836 942 GTPase-activator protein for Ras-like GTPase Family
Tissue specificity 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). {ECO:0000269|PubMed:8360177}.
Sequence
MMAAEAGSEEGGPVTAGAGGGGAAAGSSAYPAVCRVKIPAALPVAAAPYPGLVETGVAGT
LGGGAALGSEFLGAGSVAGALGGAGLTGGGTAAGVAGAAAGVAGAAVAGPSGDMALTKLP
TSLLAETLGPGGGFPPLPPPPYLPPLGAGLGTVDEGDSLDGPEYEEEEVAIPLTAPPTNQ
WYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCGDYY
IGGRRFSSLSDLIGYY
SHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTDEIS
FLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVE
DLVEEVGREEDPHEGKIWFHGKISKQE
AYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYNSIG
DIIDHY
RKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVKKGY
LLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGRPNC
FQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCN
LRKSSPGTSNKRLRQVSSLVLHI
EEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEITLSN
KTKKSKDPDILFMRCQLSRLQKGHATDEWFLL
SSHIPLKGIEPGSLRVRARYSMEKIMPE
EEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDREISM
EDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESKQSCELSPSKLEKNED
VNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVSGFV
FLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLAN
LVEFGAKEPYMEGVNPFI
KSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERGAQQ
HVLKKLLAITELLQQKQNQYTKTNDVR
Sequence length 1047
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Axon guidance
  Downstream signal transduction
EPHB-mediated forward signaling
VEGFR2 mediated cell proliferation
Regulation of RAS by GAPs
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1711
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Angioosteohypertrophic syndrome Pathogenic rs772301300, rs1757679644, rs2112486988 RCV001526499
RCV001526500
RCV001526498
Basal cell carcinoma, somatic Pathogenic rs137853214, rs137853215, rs137853216 RCV000017367
RCV000017368
RCV000017369
Basal cell carcinoma, susceptibility to, 1 Pathogenic; Likely pathogenic rs863223718, rs60835976, rs1060503441, rs1060503440, rs1554044823, rs1204340475, rs1762099168 RCV000763548
RCV005040686
RCV002496786
RCV002481469
RCV000763547
RCV002507185
RCV001197461
Capillary infantile hemangioma Pathogenic rs2112474795 RCV002254433
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs6888938, rs36000817 RCV005919417
RCV005893435
Cerebral venous angioma Uncertain significance rs1761158478 RCV001257396
Cervical cancer Benign rs6888938, rs36000817 RCV005919418
RCV005893439
Cholangiocarcinoma Benign rs36000817 RCV005893443
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arteriovenous Fistula Associate 29891884
Arteriovenous Malformations Associate 29891884
Atrioventricular Block Associate 24139535
Breast Neoplasms Associate 24347041, 32635943
Calcinosis Cutis Associate 24347041
Capillary Malformation Arteriovenous Malformation Associate 14639529, 18446851, 20007727, 23933248, 29024832, 29110021, 29891884, 30026675, 32635776, 32635943, 36980822, 40526942
Carcinoma Hepatocellular Inhibit 24443565
Carcinoma Hepatocellular Associate 26126858
Carcinoma Non Small Cell Lung Associate 29127119, 29343556, 37390335
Carcinoma Squamous Cell Associate 25303977, 27158780, 32434476