Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA.
| RefSeq Version | NM_022650.1, 12545405 |
| Length | 3757 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA. |
| Product | ras GTPase-activating protein 1 isoform 2 |
| Comment | 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 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. 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]. Transcript Variant: This variant (2) includes an alternatively spliced exon in the 5' portion of the transcript, allowing for translation from an alternative initiation codon and resulting in the shorter isoform (2) which is missing the hydrophobic amino terminus found in isoform 1. |
| RefSeq | NP_072179.1 |
| CDS | 100..2712 | Exon (1) | 1..107 | Exon (2) | 1..107 | Exon (3) | 108..260 | Exon (4) | 261..396 | Exon (5) | 397..467 | Exon (6) | 468..585 | Exon (7) | 586..617 | Exon (8) | 618..670 | Exon (9) | 671..821 | Exon (10) | 822..900 | Exon (11) | 901..1021 | Exon (12) | 1022..1178 | Exon (13) | 1179..1266 | Exon (14) | 1267..1344 | Exon (15) | 1345..1502 | Exon (16) | 1503..1579 | Exon (17) | 1580..1752 | Exon (18) | 1753..1912 | Exon (19) | 1913..2055 | Exon (20) | 2056..2171 | Exon (21) | 2172..2258 | Exon (22) | 2259..2326 | Exon (23) | 2327..2415 | Exon (24) | 2416..2493 | Exon (25) | 2494..2628 | Exon (26) | 2629..3745 |
| Translation | MKGWYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCG
DYYIGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTD
EISFLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKIS
KQEAYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYN
SIGDIIDHYRKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVK
KGYLLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGR
PNCFQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLV
LHIEEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEIT
LSNKTKKSKDPDILFMRCQLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKI
MPEEEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDRE
ISMEDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESKQSCELSPSKLEK
NEDVNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVS
GFVFLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVN
PFIKSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERG
AQQHVLKKLLAITELLQQKQNQYTKTNDVR
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| Position | Chain | Variation | Link |
| 421 | + | c, t | dbSNP:137853218 |
| 761 | + | g, t | dbSNP:137853214 |
| 766 | + | a, g | dbSNP:137853215 |
| 769 | + | a, g | dbSNP:137853216 |
| 828 | + | a, g | dbSNP:111275546 |
| 1015 | + | , a | dbSNP:34028699 |
| 1187 | + | a, g | dbSNP:137853217 |
| 2293 | + | a, g | dbSNP:113316011 |
| 2378 | + | c, t | dbSNP:113253288 |
| 2635 | + | c, t | dbSNP:3747704 |
| 2809 | + | a, g | dbSNP:115086172 |
| 2876 | + | a, g | dbSNP:112969290 |
| 2917 | + | c, t | dbSNP:10474257 |
| 2942 | + | a, g | dbSNP:77046520 |
| 3087 | + | c, t | dbSNP:116868431 |
| 3220 | + | c, g | dbSNP:1803616 |
| 3226 | + | g, t | dbSNP:1803615 |
| 3385 | + | a, t | dbSNP:1803617 |
| 3448..3450 | + | , att | dbSNP:10597415 |
| 3458 | + | g, t | dbSNP:74503149 |
| 3530 | + | c, t | dbSNP:77628431 |
| 3570 | + | c, t | dbSNP:111605113 |
| 3661 | + | g, t | dbSNP:62368952 |
| Gene Symbol | RASA1 |
| Gene Synonym | CM-AVM; CMAVM; DKFZp434N071; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP |
| Chromosome | 5 |
| Locus Map | 5q13.3 |
| All Transcripts | NM_022650 , NM_002890 |
| Title | Meta-analysis of genome-wide association studies for personality . |
| Author | de Moor,M.H., Costa,P.T., Terracciano,A., Krueger,R.F., de Geus,E.J., Toshiko,T., Penninx,B.W., Esko,T., Madden,P.A., Derringer,J., Amin,N., Willemsen,G., Hottenga,J.J., Distel,M.A., Uda,M., Sanna,S., Spinhoven,P., Hartman,C.A., Sullivan,P., Realo,A., Allik,J., Heath,A.C., Pergadia,M.L., Agrawal,A., Lin,P., Grucza,R., Nutile,T., Ciullo,M., Rujescu,D., Giegling,I., Konte,B., Widen,E., Cousminer,D.L., Eriksson,J.G., Palotie,A., Peltonen,L., Luciano,M., Tenesa,A., Davies,G., Lopez,L.M., Hansell,N.K., Medland,S.E., Ferrucci,L., Schlessinger,D., Montgomery,G.W., Wright,M.J., Aulchenko,Y.S., Janssens,A.C., Oostra,B.A., Metspalu,A., Abecasis,G.R., Deary,I.J., Raikkonen,K., Bierut,L.J., Martin,N.G., van Duijn,C.M. and Boomsma,D.I. |
| Journal | Mol. Psychiatry (2010) In press |
| Title | Identification of several novel non-p.R132 IDH1 variants in thyroid carcinomas . |
| Author | Hemerly,J.P., Bastos,A.U. and Cerutti,J.M. |
| Journal | Eur. J. Endocrinol. 163 (5), 747-755 (2010) |
| Title | Backtracking RAS mutations in high hyperdiploid childhood acute lymphoblastic leukemia . |
| Author | Wiemels,J.L., Kang,M., Chang,J.S., Zheng,L., Kouyoumji,C., Zhang,L., Smith,M.T., Scelo,G., Metayer,C., Buffler,P. and Wiencke,J.K. |
| Journal | Blood Cells Mol. Dis. 45 (3), 186-191 (2010) |
| Title | Semaphorin 4D/Plexin-B1 stimulates PTEN activity through R-Ras GTPase-activating protein activity, inducing growth cone collapse in hippocampal neurons . |
| Author | Oinuma,I., Ito,Y., Katoh,H. and Negishi,M. |
| Journal | J. Biol. Chem. 285 (36), 28200-28209 (2010) |
| Title | MicroRNA-132-mediated loss of p120RasGAP activates the endothelium to facilitate pathological angiogenesis . |
| Author | Anand,S., Majeti,B.K., Acevedo,L.M., Murphy,E.A., Mukthavaram,R., Scheppke,L., Huang,M., Shields,D.J., Lindquist,J.N., Lapinski,P.E., King,P.D., Weis,S.M. and Cheresh,D.A. |
| Journal | Nat. Med. 16 (8), 909-914 (2010) |
| Title | Agonist-induced association of the p21ras GTPase-activating protein with phosphatidylinositol 3-kinase . |
| Author | Sjolander,A. and Lapetina,E.G. |
| Journal | Biochem. Biophys. Res. Commun. 189 (3), 1503-1508 (1992) |
| Title | Interaction between the p21ras GTPase activating protein and the insulin receptor . |
| Author | Pronk,G.J., Medema,R.H., Burgering,B.M., Clark,R., McCormick,F. and Bos,J.L. |
| Journal | J. Biol. Chem. 267 (33), 24058-24063 (1992) |
| Title | A limited set of SH2 domains binds BCR through a high-affinity phosphotyrosine-independent interaction . |
| Author | Muller,A.J., Pendergast,A.M., Havlik,M.H., Puil,L., Pawson,T. and Witte,O.N. |
| Journal | Mol. Cell. Biol. 12 (11), 5087-5093 (1992) |
| Title | p21rasGAP association with Fyn, Lyn, and Yes in thrombin-activated platelets . |
| Author | Cichowski,K., McCormick,F. and Brugge,J.S. |
| Journal | J. Biol. Chem. 267 (8), 5025-5028 (1992) |
| Title | An interaction between p21ras and heat shock protein hsp60, a chaperonin . |
| Author | Ikawa,S. and Weinberg,R.A. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (6), 2012-2016 (1992) |
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