Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.
| 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, c | dbSNP:80020931 |
| 44 | + | c, t | dbSNP:11553656 |
| 44 | + | c, t | dbSNP:3213245 |
| 57 | + | c, t | dbSNP:3213246 |
| complement(64..65) | - | , g | dbSNP:67928538 |
| complement(80) | - | g, c | dbSNP:55742768 |
| 120 | + | c, t | dbSNP:2307187 |
| 134 | + | a, g | dbSNP:11553659 |
| 140 | + | c, g | dbSNP:2307186 |
| 148 | + | a, g | dbSNP:2307171 |
| 246 | + | a, c | dbSNP:2307189 |
| 270 | + | a, g | dbSNP:2307174 |
| 271 | + | a, t | dbSNP:25495 |
| 288 | + | c, t | dbSNP:2307185 |
| 335 | + | c, t | dbSNP:25496 |
| 354 | + | c, t | dbSNP:41558313 |
| 440 | + | a, g | dbSNP:2228487 |
| complement(471..472) | - | , c | dbSNP:66642689 |
| 589 | + | a, g | dbSNP:2307180 |
| 594 | + | a, t | dbSNP:2307168 |
| 602 | + | c, t | dbSNP:2307191 |
| complement(668) | - | t, c | dbSNP:56357789 |
| 690 | + | c, g | dbSNP:2307170 |
| 700 | + | c, t | dbSNP:1799782 |
| 717 | + | c, t | dbSNP:2307192 |
| 738 | + | a, c, g, t | dbSNP:915927 |
| complement(761) | - | g, a | dbSNP:111857343 |
| 959 | + | a, g | dbSNP:25489 |
| 1014 | + | a, c | dbSNP:2307188 |
| 1020 | + | a, g | dbSNP:3213366 |
| 1030 | + | a, g | dbSNP:25490 |
| 1045 | + | c, t | dbSNP:25491 |
| 1098 | + | g, t | dbSNP:2307173 |
| complement(1261) | - | t, c | dbSNP:2271980 |
| 1316 | + | a, g | dbSNP:25487 |
| 1341 | + | a, t | dbSNP:2307179 |
| complement(1374) | - | g, a | dbSNP:2293035 |
| 1574 | + | a, c | dbSNP:2307184 |
| 1591 | + | a, g | dbSNP:72554204 |
| 1661 | + | c, t | dbSNP:25474 |
| 1702 | + | c, t | dbSNP:41561817 |
| 1796 | + | a, g | dbSNP:2307167 |
| 1798 | + | c, t | dbSNP:2307166 |
| 1806 | + | c, g | dbSNP:2307181 |
| 1833 | + | a, g | dbSNP:2307182 |
| 1846 | + | a, t | dbSNP:2682557 |
| complement(1847) | - | t, g | dbSNP:78985299 |
| 1847 | + | , a, c, ct | dbSNP:2307177 |
| complement(2016) | - | t, c | dbSNP:3547 |
| complement(2033..2034) | - | , gt | dbSNP:66940040 |
| complement(2034..2035) | - | , gt | dbSNP:60624677 |
| 2034 | + | , ta | dbSNP:2307169 |
| complement(2035..2048) | - | , gtgtgtgtgtgtgt | dbSNP:45592142 |
| complement(2035..2036) | - | , gt | dbSNP:71169259 |
| complement(2036) | - | g, a | dbSNP:11553654 |
| complement(2043..2044) | - | , gt | dbSNP:72343609 |
| complement(2044..2047) | - | , tgtg | dbSNP:71910581 |
| complement(2045..2048) | - | , gtgt | dbSNP:72484243 |
| complement(2049..2058) | - | , gtgtgtgtgt | dbSNP:72212037 |
| 2050 | + | a, c, g | dbSNP:2307172 |
| complement(2063..2064) | - | , gtgtgt | dbSNP:72117203 |
| 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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