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Database:

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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16849 Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu16849C Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 2, mRNA. Customized vector On-demand $329.00 12-14

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_022650.2, 347360923
Length 2613 bp
Structure linear
Update Date 20-APR-2014
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)434..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)1058..1321
Misc Feature(15)1364..1741
Misc Feature(16)1436..1438
Misc Feature(17)1436..1438
Misc Feature(18)1733..2728
Misc Feature(19)order(1838..1840,1946..1948,1952..1954,1958..1963,
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
38+a, cdbSNP:371477418
39+a, gdbSNP:141240226
50+c, tdbSNP:139686009
60+a, gdbSNP:150804394
114+a, gdbSNP:368130094
160+dbSNP:
160+a, gdbSNP:139174054
205+c, tdbSNP:377014568
210+c, tdbSNP:182498192
276+a, gdbSNP:188368311
287+dbSNP:
287+a, gdbSNP:201997632
367+c, tdbSNP:377483520
446+dbSNP:
446+c, tdbSNP:137853218
447+a, gdbSNP:374823017
478+a, cdbSNP:145354256
508+dbSNP:
508+c, tdbSNP:369354616
628+dbSNP:
628+a, gdbSNP:188475610
685+dbSNP:
685+a, gdbSNP:375419221
745+dbSNP:
745+c, tdbSNP:144668841
786+g, tdbSNP:137853214
791+a, gdbSNP:137853215
794+a, gdbSNP:137853216
802+a, gdbSNP:367991324
805+a, gdbSNP:371724329
834+a, gdbSNP:191759701
849+dbSNP:
849+c, tdbSNP:201287544
853+a, gdbSNP:111275546
934+dbSNP:
934+a, gdbSNP:147255535
935+c, gdbSNP:369911929
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
1186+c, tdbSNP:368416407
1212+dbSNP:
1212+a, gdbSNP:137853217
1298+dbSNP:
1298+a, tdbSNP:370069384
1315+a, gdbSNP:200157130
1329+a, gdbSNP:377099473
1435+dbSNP:
1435+a, gdbSNP:376280581
1466+c, gdbSNP:148984998
1504+a, gdbSNP:370957991
1561+dbSNP:
1561+a, tdbSNP:370819852
1613+dbSNP:
1613+c, tdbSNP:370631681
1626+a, gdbSNP:192308897
1705+a, gdbSNP:374292148
1732+c, tdbSNP:202220195
1744+a, cdbSNP:142908426
1814+dbSNP:
1814+g, tdbSNP:200416306
1825+a, gdbSNP:374283890
1879+c, tdbSNP:373059169
1881+a, tdbSNP:373098580
2063+dbSNP:
2063+a, tdbSNP:151119180
2087+dbSNP:
2087+c, tdbSNP:141119571
2114+a, gdbSNP:372941256
2121+a, cdbSNP:184201084
2196+c, tdbSNP:138785106
2201+dbSNP:
2201+c, tdbSNP:372498033
2241+a, gdbSNP:372559312
2255+a, gdbSNP:201204842
2318+dbSNP:
2318+a, gdbSNP:113316011
2332+g, tdbSNP:375135791
2359+dbSNP:
2359+a, g, tdbSNP:137898246
2366+a, gdbSNP:140786299
2387+c, tdbSNP:199733745
2403+c, tdbSNP:113253288
2437+g, tdbSNP:368500974
2522+dbSNP:
2522+a, gdbSNP:372521279
2564+c, tdbSNP:144692925
2576+c, tdbSNP:138429455
2585+c, tdbSNP:369796839
2657+dbSNP:
2657+a, gdbSNP:373643445
2660+c, tdbSNP:3747704
2678+a, gdbSNP:377550978
2725+c, tdbSNP:149297860
2726+g, tdbSNP:144524710
2745+c, tdbSNP:181092734
2784+a, gdbSNP:199767239
2834+a, gdbSNP:115086172
2855+a, gdbSNP:185668226
2877+, cdbSNP:368201968
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
3473..3475+, attdbSNP:374889193
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
Title Hsa-mir-182 downregulates RASA1 and suppresses lung squamous cell carcinoma cell proliferation .
Author Zhu YJ, Xu B and Xia W.
Journal Clin. Lab. 60 (1), 155-159 (2014)
Title Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man .
Author Burrows PE, Gonzalez-Garay ML, Rasmussen JC, Aldrich MB, Guilliod R, Maus EA, Fife CE, Kwon S, Lapinski PE, King PD and Sevick-Muraca EM.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (21), 8621-8626 (2013)
Title Negative regulation of the RalGAP complex by 14-3-3 .
Author Leto D, Uhm M, Williams A, Chen XW and Saltiel AR.
Journal J. Biol. Chem. 288 (13), 9272-9283 (2013)
Title MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA in human colorectal cancer by repressing RAS p21 GTPase activating protein 1 (RASA1) .
Author Sun D, Yu F, Ma Y, Zhao R, Chen X, Zhu J, Zhang CY, Chen J and Zhang J.
Journal J. Biol. Chem. 288 (13), 9508-9518 (2013)
Title Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies .
Author
Journal Am J Psychiatry 170 (2), 207-217 (2013)
Title RASA1-Related Disorders .
Author Bayrak-Toydemir,P. and Stevenson,D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Agonist-induced association of the p21ras GTPase-activating protein with phosphatidylinositol 3-kinase .
Author Sjolander A and Lapetina EG.
Journal Biochem. Biophys. Res. Commun. 189 (3), 1503-1508 (1992)
Title Interaction between the p21ras GTPase activating protein and the insulin receptor .
Author Pronk GJ, Medema RH, Burgering BM, Clark R, McCormick F and Bos JL.
Journal J. Biol. Chem. 267 (33), 24058-24063 (1992)
Title Phosphorylation sites in the PDGF receptor with different specificities for binding GAP and PI3 kinase in vivo .
Author Kashishian A, Kazlauskas A and Cooper JA.
Journal EMBO J. 11 (4), 1373-1382 (1992)
Title An interaction between p21ras and heat shock protein hsp60, a chaperonin .
Author Ikawa S and Weinberg RA.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (6), 2012-2016 (1992)

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