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RASA1 (RAS p21 protein activator 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5921
Gene nameGene Name - the full gene name approved by the HGNC.
RAS p21 protein activator 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RASA1
SynonymsGene synonyms aliases
CM-AVM, CMAVM, CMAVM1, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Capillary malformation-arteriovenous malformation Capillary malformation-arteriovenous malformation, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder), CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 rs797044451, rs137853217, rs137853218, rs1348578241, rs1580386963, rs878854569, rs1060503441, rs1060503439, rs1554049394, rs1554050230, rs1554050584, rs1384480619, rs1554045819, rs983011713, rs1204340475, rs1561331089, rs776410552, rs1562976493, rs1562973541, rs1562969219, rs927772349, rs1584653620, rs1562973614, rs377702127, rs1584653054, rs1584658113, rs1484547615, rs1584666961, rs1758886343 29120072, 26499346, 23164092, 30635911, 24038909, 14639529, 18446851, 27081547, 24038909, 14639529, 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, rs121913357, rs180177035, rs121913355, rs180177036, rs180177039, rs180177040, rs180177041, rs387906660, rs387906661, rs387906800, rs387907205, rs387907206, rs397507465, rs397507466, rs397507473, rs397507474, rs397507475, rs397507476, rs397507479, rs397507480, rs397507483, rs113488022, rs397507484, rs397516792, rs397516793, rs730880517, rs397516790, rs727504317, rs727504382, rs397516791, rs397516892, rs397516893, rs180177038, rs397516894, rs397516895, rs397516904, rs121913341, rs180177042, rs727504370, rs797044593, rs794729219, rs869025339, rs869025606, rs869025608, rs876657651, rs886041310, rs727504819, rs121913349, rs121913337, rs121913338, rs1057519732, rs1057519733, rs1057519805, rs1057519806, rs1135401787, rs1586126581, rs1586140436, rs1586140512, rs1595860875, rs1599307313, rs2041142587
Unknown
Disease name Disease term dbSNP ID References
Anaplastic carcinoma Anaplastic carcinoma 12606953
Capillary malformation without arteriovenous malformation Capillary Malformation Without Arteriovenous Malformation
Congenital arteriovenous malformation Congenital arteriovenous malformation 14639529
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569

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