Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5921
Gene name Gene Name - the full gene name approved by the HGNC.
RAS p21 protein activator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RASA1
Synonyms (NCBI Gene) Gene synonyms aliases
CM-AVM, CMAVM, CMAVM1, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMAVM1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.3
Summary Summary of gene provided in NCBI Entrez 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 f
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003988 hsa-miR-21-5p Luciferase reporter assay, Western blot 18372920
MIRT003230 hsa-miR-335-5p Luciferase reporter assay 20065103
MIRT007010 hsa-miR-132-3p Immunoblot, Western blot 21868695
MIRT007292 hsa-miR-31-5p Luciferase reporter assay, qRT-PCR, Western blot 23322774
MIRT024963 hsa-miR-214-3p Microarray;Other 19859982
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000281 Process Mitotic cytokinesis ISS
GO:0001570 Process Vasculogenesis ISS
GO:0001726 Component Ruffle IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
139150 9871 ENSG00000145715
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Capillary malformation-arteriovenous malformation CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder), CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1, Capillary malformation-arteriovenous malformation rs797044451, rs137853217, rs137853218, rs1348578241, rs1580386963, rs878854569, rs1060503441, rs1060503439, rs1554049394, rs1554050230, rs1554050584, rs1384480619, rs1554045819, rs983011713, rs1204340475
View all (14 more)
29120072, 26499346, 23164092, 30635911, 24038909, 14639529, 18446851, 27081547, 22342634
Carcinoma Carcinoma, Basal cell carcinoma, Squamous cell carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma, Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259 12606953, 27158780
Carcinoma, somatic BASAL CELL CARCINOMA, SOMATIC rs587776628, rs121918347, rs121918348, rs587776689, rs137853214, rs137853215, rs137853216
Cardiofaciocutaneous syndrome Cardio-facio-cutaneous syndrome rs121434497, rs121434498, rs121434499, rs267607230, rs121913530, rs104894359, rs104894360, rs104894366, rs104894361, rs104894362, rs121908594, rs121908595, rs121908596, rs121913348, rs180177034
View all (61 more)
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Capillary Malformation-Arteriovenous Malformation capillary malformation-arteriovenous malformation syndrome GenCC
Noonan Syndrome Noonan syndrome GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
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