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Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_006297 Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA. Full Lenth $609.58
ORF Sequence $551.58


RefSeq Version NM_006297.2, 190684674
Length 2102 bp
Structure linear
Update Date 09-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.
Product DNA repair protein XRCC1
Comment

Summary: The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq].

RefSeq NP_006288.2
CDS 121..2022
Exon (1)1..171
Exon (2)1..171
Exon (3)172..264
Exon (4)265..375
Exon (5)376..534
Exon (6)535..609
Exon (7)610..721
Exon (8)722..831
Exon (9)832..943
Exon (10)944..1202
Exon (11)1203..1319
Exon (12)1320..1413
Exon (13)1414..1546
Exon (14)1547..1601
Exon (15)1602..1741
Exon (16)1742..1832
Exon (17)1833..1908
Exon (18)1909..2102
Translation MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDI GNDGSAFVEVLVGSSAGGAGEQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAA AEKRWDRVKIVCSQPYSKDSPFGLSFVRFHSPPDKDEAEAPSQKVTVTKLGQFRVKEEDE SANSLRPGALFFSRINKTSPVTASDPAGPSYAAATLQASSAASSASPVSRAIGSTSKPQE SPKGKRKLDLNQEEKKTPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPR GEGTEPRRPRAGPEELGKILQGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHL ICAFANTPKYSQVLGLGGRIVRKEWVLDCHRMRRRLPSQRYLMAGPGSSSEEDEASHSGG SGDEAPKLPQKQPQTKTKPTQAAGPSSPQKPPTPEETKAASPVLQEDIDIEGVQSEGQDN GAEDSGDTEDELRRVAEQKEHRLPPGQEENGEDPYAGSTDENTDSEEHQEPPDLPVPELP DFFQGKHFFLYGEFPGDERRKLIRYVTAFNGELEDYMSDRVQFVITAQEWDPSFEEALMD NPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA
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Position Chain Variation Link
complement(39)-g, cdbSNP:80020931
44+c, tdbSNP:11553656
44+c, tdbSNP:3213245
57+c, tdbSNP:3213246
complement(64..65)-, gdbSNP:67928538
complement(80)-g, cdbSNP:55742768
120+c, tdbSNP:2307187
134+a, gdbSNP:11553659
140+c, gdbSNP:2307186
148+a, gdbSNP:2307171
246+a, cdbSNP:2307189
270+a, gdbSNP:2307174
271+a, tdbSNP:25495
288+c, tdbSNP:2307185
335+c, tdbSNP:25496
354+c, tdbSNP:41558313
440+a, gdbSNP:2228487
complement(471..472)-, cdbSNP:66642689
589+a, gdbSNP:2307180
594+a, tdbSNP:2307168
602+c, tdbSNP:2307191
complement(668)-t, cdbSNP:56357789
690+c, gdbSNP:2307170
700+c, tdbSNP:1799782
717+c, tdbSNP:2307192
738+a, c, g, tdbSNP:915927
complement(761)-g, adbSNP:111857343
959+a, gdbSNP:25489
1014+a, cdbSNP:2307188
1020+a, gdbSNP:3213366
1030+a, gdbSNP:25490
1045+c, tdbSNP:25491
1098+g, tdbSNP:2307173
complement(1261)-t, cdbSNP:2271980
1316+a, gdbSNP:25487
1341+a, tdbSNP:2307179
complement(1374)-g, adbSNP:2293035
1574+a, cdbSNP:2307184
1591+a, gdbSNP:72554204
1661+c, tdbSNP:25474
1702+c, tdbSNP:41561817
1796+a, gdbSNP:2307167
1798+c, tdbSNP:2307166
1806+c, gdbSNP:2307181
1833+a, gdbSNP:2307182
1846+a, tdbSNP:2682557
complement(1847)-t, gdbSNP:78985299
1847+, a, c, ctdbSNP:2307177
complement(2016)-t, cdbSNP:3547
complement(2033..2034)-, gtdbSNP:66940040
complement(2034..2035)-, gtdbSNP:60624677
2034+, tadbSNP:2307169
complement(2035..2048)-, gtgtgtgtgtgtgtdbSNP:45592142
complement(2035..2036)-, gtdbSNP:71169259
complement(2036)-g, adbSNP:11553654
complement(2043..2044)-, gtdbSNP:72343609
complement(2044..2047)-, tgtgdbSNP:71910581
complement(2045..2048)-, gtgtdbSNP:72484243
complement(2049..2058)-, gtgtgtgtgtdbSNP:72212037
2050+a, c, gdbSNP:2307172
complement(2063..2064)-, gtgtgtdbSNP:72117203
Gene SymbolXRCC1
Gene SynonymRCC
Chromosome19
Locus Map19q13.2
All Transcripts NM_006297
Title X-ray repair cross-complementing group 1 (XRCC1) genetic polymorphisms and gastric cancer risk: A HuGE review and meta-analysis .
Author Xue,H., Ni,P., Lin,B., Xu,H. and Huang,G.
Journal Am. J. Epidemiol. 173 (4), 363-375 (2011)
Title Association between polymorphisms in the XRCC1 and GST genes, and CpG island methylation status in colonic mucosa in ulcerative colitis .
Author Tahara,T., Shibata,T., Nakamura,M., Okubo,M., Yamashita,H., Yoshioka,D., Yonemura,J., Hirata,I. and Arisawa,T.
Journal Virchows Arch. 458 (2), 205-211 (2011)
Title DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India .
Author Pramanik,S., Devi,S., Chowdhary,S., Surendran,S.T., Krishnamurthi,K. and Chakrabarti,T.
Journal Chemosphere 82 (7), 941-946 (2011)
Title Multiple genetic polymorphisms in the prediction of clinical outcome of metastatic colorectal cancer patients treated with first-line FOLFOX-4 chemotherapy .
Author Huang,M.Y., Huang,M.L., Chen,M.J., Lu,C.Y., Chen,C.F., Tsai,P.C., Chuang,S.C., Hou,M.F., Lin,S.R. and Wang,J.Y.
Journal Pharmacogenet. Genomics 21 (1), 18-25 (2011)
Title XRCC1 downregulated through promoter hypermethylation is involved in human gastric carcinogenesis .
Author Wang,P., Tang,J.T., Peng,Y.S., Chen,X.Y., Zhang,Y.J. and Fang,J.Y.
Journal J Dig Dis 11 (6), 343-351 (2010)
Title Simultaneous amplification of four DNA repair genes and beta-actin in human lymphocytes by multiplex reverse transcriptase-PCR .
Author Wei,Q., Xu,X., Cheng,L., Legerski,R.J. and Ali-Osman,F.
Journal Cancer Res. 55 (21), 5025-5029 (1995)
Title Genomic sequence comparison of the human and mouse XRCC1 DNA repair gene regions .
Author Lamerdin,J.E., Montgomery,M.A., Stilwagen,S.A., Scheidecker,L.K., Tebbs,R.S., Brookman,K.W., Thompson,L.H. and Carrano,A.V.
Journal Genomics 25 (2), 547-554 (1995)
Title The 1993-94 Genethon human genetic linkage map .
Author Gyapay,G., Morissette,J., Vignal,A., Dib,C., Fizames,C., Millasseau,P., Marc,S., Bernardi,G., Lathrop,M. and Weissenbach,J.
Journal Nat. Genet. 7 (2 SPEC NO), 246-339 (1994)
Title Molecular cloning of the human XRCC1 gene, which corrects defective .
Author Thompson,L.H., Brookman,K.W., Jones,N.J., Allen,S.A. and Carrano,A.V.
Journal Mol. Cell. Biol. 10 (12), 6160-6171 (1990)
Title Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO: a third repair gene on human chromosome 19 .
Author Thompson,L.H., Bachinski,L.L., Stallings,R.L., Dolf,G., Weber,C.A., Westerveld,A. and Siciliano,M.J.
Journal Genomics 5 (4), 670-679 (1989)

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