Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 3 (XRCC3), transcript variant 3, mRNA.
| RefSeq Version | NM_001100118.1, 153946426 |
| Length | 2563 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 3 (XRCC3), transcript variant 3, mRNA. |
| Product | DNA repair protein XRCC3 |
| Comment | Summary: This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq]. Transcript Variant: This variant (3) lacks a segment in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein. |
| RefSeq | NP_001093588.1 |
| CDS | 324..1364 | Exon (1) | 1..63 | Exon (2) | 1..63 | Exon (3) | 64..165 | Exon (4) | 166..378 | Exon (5) | 379..516 | Exon (6) | 517..729 | Exon (7) | 730..884 | Exon (8) | 885..1097 | Exon (9) | 1098..1144 | Exon (10) | 1145..2545 |
| Translation | MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGS
SILTALQLHQQKERFPTQHQRLSLGCPVLDALLRGGLPLDGITELAGRSSAGKTQLALQL
CLAVQFPRQHGGLEAGAVYICTEDAFPHKRLQQLMAQQPRLRTDVPGELLQKLRFGSQIF
IEHVADVDTLLECVNKKVPVLLSRGMARLVVIDSVAAPFRCEFDSQASAPRARHLQSLGA
TLRELSSAFQSPVLCINQVTEAMEEQGAAHGPLGFWDERVSPALGITWANQLLVRLLADR
LREEEAALGCPARTLRVLSAPHLPPSSCSYTISAEGVRGTPGTQSH
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| Position | Chain | Variation | Link |
| complement(299) | - | t, a | dbSNP:56018633 |
| complement(338) | - | t, c | dbSNP:56377012 |
| 455 | + | c, t | dbSNP:3212045 |
| complement(478) | - | g, a | dbSNP:117761689 |
| 604 | + | a, g | dbSNP:3212057 |
| complement(801) | - | g, a | dbSNP:56347206 |
| 815 | + | c, t | dbSNP:28903079 |
| complement(843) | - | g, a | dbSNP:56288529 |
| complement(959) | - | g, a | dbSNP:41285494 |
| 1045 | + | c, t | dbSNP:861539 |
| complement(1046) | - | c, a | dbSNP:79874791 |
| complement(1051) | - | t, c | dbSNP:77381814 |
| 1134 | + | a, g | dbSNP:28903080 |
| 1228 | + | a, g | dbSNP:28903081 |
| complement(1332) | - | , c | dbSNP:34183054 |
| complement(1488) | - | t, c | dbSNP:55748757 |
| 1509 | + | c, t | dbSNP:3212116 |
| 1812 | + | a, c | dbSNP:3212117 |
| complement(1826) | - | g, a | dbSNP:34023186 |
| 1865 | + | c, t | dbSNP:3212118 |
| complement(1884..1885) | - | , c | dbSNP:34231836 |
| 1896 | + | a, g | dbSNP:3212119 |
| complement(1903) | - | t, c | dbSNP:77103957 |
| 1949 | + | a, g | dbSNP:3212120 |
| complement(1965) | - | t, c | dbSNP:118143436 |
| 1977 | + | a, g | dbSNP:3212121 |
| 2118 | + | c, t | dbSNP:11546527 |
| 2147 | + | c, t | dbSNP:3212122 |
| 2152 | + | c, t | dbSNP:3212123 |
| 2171 | + | c, t | dbSNP:3212124 |
| complement(2172) | - | t, c | dbSNP:117875015 |
| 2219 | + | c, t | dbSNP:11546528 |
| 2232 | + | g, t | dbSNP:3212125 |
| complement(2276) | - | , ctgcacagtgtgggactgcaggacagggtc | dbSNP:55903728 |
| complement(2281) | - | t, a | dbSNP:115036213 |
| complement(2414) | - | t, c | dbSNP:78863423 |
| complement(2424..2425) | - | , g | dbSNP:34975865 |
| 2458 | + | a, g | dbSNP:3212126 |
| complement(2478) | - | g, c | dbSNP:75104408 |
| 2481 | + | a, t | dbSNP:45625536 |
| Gene Symbol | XRCC3 |
| Gene Synonym | CMM6 |
| Chromosome | 14 |
| Locus Map | 14q32.3 |
| All Transcripts | NM_001100118 , NM_005432 , NM_001100119 |
| 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 | Precancerous and non-cancer disease endpoints of chronic arsenic exposure: the level of chromosomal damage and XRCC3 T241M polymorphism . |
| Author | Kundu,M., Ghosh,P., Mitra,S., Das,J.K., Sau,T.J., Banerjee,S., States,J.C. and Giri,A.K. |
| Journal | Mutat. Res. 706 (1-2), 7-12 (2011) |
| Title | A study of DNA damage recognition and repair gene polymorphisms in relation to cancer predisposition and G2 chromosomal radiosensitivity . |
| Author | Curwen,G.B., Murphy,S., Tawn,E.J., Winther,J.F. and Boice,J.D. Jr. |
| Journal | Environ. Mol. Mutagen. 52 (1), 72-76 (2011) |
| Title | Human genetic variants of homologous recombination repair genes first found to be associated with Epstein-Barr virus antibody titers in healthy Cantonese . |
| Author | Shen,G.P., Pan,Q.H., Hong,M.H., Qin,H.D., Xu,Y.F., Chen,L.Z., Feng,Q.S., Jorgensen,T.J., Shugart,Y.Y., Zeng,Y.X. and Jia,W.H. |
| Journal | Int. J. Cancer (2010) In press |
| Title | Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancer . |
| Author | Sakano,S., Hinoda,Y., Sasaki,M., Wada,T., Matsumoto,H., Eguchi,S., Shinohara,A., Kawai,Y., Hara,T., Nagao,K., Hara,T., Naito,K. and Matsuyama,H. |
| Journal | Pharmacogenomics 11 (10), 1377-1387 (2010) |
| Title | The XRCC2 and XRCC3 repair genes are required for chromosome stability in mammalian cells . |
| Author | Cui,X., Brenneman,M., Meyne,J., Oshimura,M., Goodwin,E.H. and Chen,D.J. |
| Journal | Mutat. Res. 434 (2), 75-88 (1999) |
| Title | XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages . |
| Author | Liu,N., Lamerdin,J.E., Tebbs,R.S., Schild,D., Tucker,J.D., Shen,M.R., Brookman,K.W., Siciliano,M.J., Walter,C.A., Fan,W., Narayana,L.S., Zhou,Z.Q., Adamson,A.W., Sorensen,K.J., Chen,D.J., Jones,N.J. and Thompson,L.H. |
| Journal | Mol. Cell 1 (6), 783-793 (1998) |
| Title | Rare microsatellite polymorphisms in the DNA repair genes XRCC1, XRCC3 and XRCC5 associated with cancer in patients of varying radiosensitivity . |
| Author | Price,E.A., Bourne,S.L., Radbourne,R., Lawton,P.A., Lamerdin,J., Thompson,L.H. and Arrand,J.E. |
| Journal | Somat. Cell Mol. Genet. 23 (4), 237-247 (1997) |
| Title | Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene . |
| Author | Tebbs,R.S., Zhao,Y., Tucker,J.D., Scheerer,J.B., Siciliano,M.J., Hwang,M., Liu,N., Legerski,R.J. and Thompson,L.H. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 92 (14), 6354-6358 (1995) |
| Title | [Rational approaches to the treatment of urinary incontinence (author's transl)] . |
| Author | Kopecny,J. |
| Journal | Cesk Gynekol 41 (6), 408-409 (1976) |
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