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Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022650 Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_022650.2, 347360923
Length 3796 bp
Structure linear
Update Date 17-APR-2013
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. 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].


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 125..2737
Misc Feature(1)74..76
Misc Feature(2)134..385
Misc Feature(3)134..385
Misc Feature(4)order(155..157,212..214,278..280,284..286)
Misc Feature(5)order(281..283,356..358)
Misc Feature(6)452..610
Misc Feature(7)641..871
Misc Feature(8)order(665..667,722..724,785..787,791..793)
Misc Feature(9)order(788..790,869..871)
Misc Feature(10)956..958
Misc Feature(11)956..958
Misc Feature(12)971..973
Misc Feature(13)971..973
Misc Feature(14)1073..1318
Misc Feature(15)1364..1741
Misc Feature(16)1436..1438
Misc Feature(17)1436..1438
Misc Feature(18)1754..2698
Misc Feature(19)order(1838..1840,1946..1948,1958..1969,1988..1990,
Exon (1)1..132
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (2)133..285
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (3)286..421
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (4)422..492
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (5)493..610
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (6)611..642
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (7)643..695
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (8)696..846
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (9)847..925
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (10)926..1046
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (11)1047..1203
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (12)1204..1291
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (13)1292..1369
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (14)1370..1527
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (15)1528..1604
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (16)1605..1777
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (17)1778..1937
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (18)1938..2080
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (19)2081..2196
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (20)2197..2283
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (21)2284..2351
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (22)2352..2440
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (23)2441..2518
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (24)2519..2653
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Exon (25)2654..3780
Gene:RASA1
Gene Synonym:CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Translation MKGWYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCG DYYIGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTD EISFLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKIS KQEAYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYN SIGDIIDHYRKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVK KGYLLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGR PNCFQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLV LHIEEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEIT LSNKTKKSKDPDILFMRCQLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKI MPEEEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDRE ISMEDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESKQSCELSPSKLEK NEDVNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVS GFVFLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVN PFIKSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERG AQQHVLKKLLAITELLQQKQNQYTKTNDVR
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Position Chain Variation Link
1+dbSNP:
1+c, gdbSNP:200949838
2+c, tdbSNP:148256526
39+a, gdbSNP:141240226
50+c, tdbSNP:139686009
60+a, gdbSNP:150804394
160+dbSNP:
160+a, gdbSNP:139174054
210+c, tdbSNP:182498192
276+a, gdbSNP:188368311
287+dbSNP:
287+a, gdbSNP:201997632
446+dbSNP:
446+c, tdbSNP:137853218
478+a, cdbSNP:145354256
628+dbSNP:
628+a, gdbSNP:188475610
745+dbSNP:
745+c, tdbSNP:144668841
786+g, tdbSNP:137853214
791+a, gdbSNP:137853215
794+a, gdbSNP:137853216
834+a, gdbSNP:191759701
849+dbSNP:
849+c, tdbSNP:201287544
853+a, gdbSNP:111275546
934+dbSNP:
934+a, gdbSNP:147255535
964+a, gdbSNP:140707293
976+c, tdbSNP:188482059
987+a, gdbSNP:181630831
1001+a, gdbSNP:144748261
1002+c, gdbSNP:199894378
1040+, adbSNP:34028699
1048+dbSNP:
1048+c, gdbSNP:200610401
1087+a, gdbSNP:200197533
1176+a, gdbSNP:145752649
1212+dbSNP:
1212+a, gdbSNP:137853217
1315+dbSNP:
1315+a, gdbSNP:200157130
1466+dbSNP:
1466+c, gdbSNP:148984998
1626+dbSNP:
1626+a, gdbSNP:192308897
1732+c, tdbSNP:202220195
1744+a, cdbSNP:142908426
1814+dbSNP:
1814+g, tdbSNP:200416306
2063+dbSNP:
2063+a, tdbSNP:151119180
2087+dbSNP:
2087+c, tdbSNP:141119571
2121+a, cdbSNP:184201084
2196+c, tdbSNP:138785106
2255+dbSNP:
2255+a, gdbSNP:201204842
2318+dbSNP:
2318+a, gdbSNP:113316011
2359+dbSNP:
2359+a, g, tdbSNP:137898246
2366+a, gdbSNP:140786299
2387+c, tdbSNP:199733745
2403+c, tdbSNP:113253288
2564+dbSNP:
2564+c, tdbSNP:144692925
2576+c, tdbSNP:138429455
2660+dbSNP:
2660+c, tdbSNP:3747704
2725+c, tdbSNP:149297860
2726+g, tdbSNP:144524710
2745+c, tdbSNP:181092734
2784+a, gdbSNP:199767239
2834+a, gdbSNP:115086172
2855+a, gdbSNP:185668226
2901+a, gdbSNP:112969290
2942+c, tdbSNP:10474257
2967+a, gdbSNP:77046520
3112+c, tdbSNP:116868431
3161+g, tdbSNP:191725379
3229+g, tdbSNP:141621865
3245+c, gdbSNP:1803616
3251+g, tdbSNP:1803615
3280+a, gdbSNP:183575968
3379+a, gdbSNP:188859950
3410+a, tdbSNP:1803617
3469..3471+, tatdbSNP:200022530
3470..3472+, attdbSNP:10597415
3555+c, tdbSNP:192141756
3577..3579+, attdbSNP:201705926
3589+a, gdbSNP:182603054
3595+c, tdbSNP:111605113
3686+g, tdbSNP:62368952
3731+a, cdbSNP:1042312
Gene SymbolRASA1
Gene SynonymCM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP
Chromosome5
Locus Map5q13.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_002890 Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA. On-demand $1699.00 25
NM_022650 Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA. On-demand $899.00 20
Title Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation .
Author Boyden,L.M., Orme,C.M., Antaya,R.J., Choate,K.A. and King,B.A.
Journal J. Am. Acad. Dermatol. 67 (6), E287-E289 (2012)
Title Ras and GTPase-activating protein (GAP) drive GTP into a precatalytic state as revealed by combining FTIR and biomolecular simulations .
Author Rudack,T., Xia,F., Schlitter,J., Kotting,C. and Gerwert,K.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (38), 15295-15300 (2012)
Title Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene .
Author de Wijn,R.S., Oduber,C.E., Breugem,C.C., Alders,M., Hennekam,R.C. and van der Horst,C.M.
Journal Eur J Med Genet 55 (3), 191-195 (2012)
Title RASA1 analysis: clinical and molecular findings in a series of consecutive cases .
Author Wooderchak-Donahue,W., Stevenson,D.A., McDonald,J., Grimmer,J.F., Gedge,F. and Bayrak-Toydemir,P.
Journal Eur J Med Genet 55 (2), 91-95 (2012)
Title Revisiting G3BP1 as a RasGAP binding protein: sensitization of tumor cells to chemotherapy by the RasGAP 317-326 sequence does not involve G3BP1 .
Author Annibaldi,A., Dousse,A., Martin,S., Tazi,J. and Widmann,C.
Journal PLoS ONE 6 (12), E29024 (2011)
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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