MDC1
| Mediator of DNA damage checkpoint 1 | |||||||||||||
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File:PBB Protein MDC1 image.jpg PDB rendering based on 2ado. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | MDC1 ; DKFZp781A0122; KIAA0170; NFBD1 | ||||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 67092 | ||||||||||||
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| RNA expression pattern | |||||||||||||
| File:PBB GE MDC1 203061 s at tn.png | |||||||||||||
| File:PBB GE MDC1 203062 s at tn.png | |||||||||||||
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| Template:GNF Ortholog box | |||||||||||||
| Species | Human | Mouse | |||||||||||
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| RefSeq (protein) | n/a | n/a | |||||||||||
| Location (UCSC) | n/a | n/a | |||||||||||
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Mediator of DNA damage checkpoint 1, also known as MDC1, is a human gene.[1]
The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci.[1]
References
Further reading
- Stucki M, Jackson SP (2005). "MDC1/NFBD1: a key regulator of the DNA damage response in higher eukaryotes". DNA Repair (Amst.). 3 (8–9): 953–7. doi:10.1016/j.dnarep.2004.03.007. PMID 15279781.
- Nagase T, Seki N, Ishikawa K; et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 3 (1): 17–24. PMID 8724849.
- Ozaki T, Nagase T, Ichimiya S; et al. (2000). "NFBD1/KIAA0170 is a novel nuclear transcriptional transactivator with BRCT domain". DNA Cell Biol. 19 (8): 475–85. doi:10.1089/10445490050128403. PMID 10975465.
- Shang YL, Bodero AJ, Chen PL (2003). "NFBD1, a novel nuclear protein with signature motifs of FHA and BRCT, and an internal 41-amino acid repeat sequence, is an early participant in DNA damage response". J. Biol. Chem. 278 (8): 6323–9. doi:10.1074/jbc.M210749200. PMID 12475977.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Xu X, Stern DF (2003). "NFBD1/KIAA0170 is a chromatin-associated protein involved in DNA damage signaling pathways". J. Biol. Chem. 278 (10): 8795–803. doi:10.1074/jbc.M211392200. PMID 12499369.
- Peng A, Chen PL (2003). "NFBD1, like 53BP1, is an early and redundant transducer mediating Chk2 phosphorylation in response to DNA damage". J. Biol. Chem. 278 (11): 8873–6. doi:10.1074/jbc.C300001200. PMID 12551934.
- Goldberg M, Stucki M, Falck J; et al. (2003). "MDC1 is required for the intra-S-phase DNA damage checkpoint". Nature. 421 (6926): 952–6. doi:10.1038/nature01445. PMID 12607003.
- Lou Z, Minter-Dykhouse K, Wu X, Chen J (2003). "MDC1 is coupled to activated CHK2 in mammalian DNA damage response pathways". Nature. 421 (6926): 957–61. doi:10.1038/nature01447. PMID 12607004.
- Stewart GS, Wang B, Bignell CR; et al. (2003). "MDC1 is a mediator of the mammalian DNA damage checkpoint". Nature. 421 (6926): 961–6. doi:10.1038/nature01446. PMID 12607005.
- Lou Z, Chini CC, Minter-Dykhouse K, Chen J (2003). "Mediator of DNA damage checkpoint protein 1 regulates BRCA1 localization and phosphorylation in DNA damage checkpoint control". J. Biol. Chem. 278 (16): 13599–602. doi:10.1074/jbc.C300060200. PMID 12611903.
- Xu X, Stern DF (2003). "NFBD1/MDC1 regulates ionizing radiation-induced focus formation by DNA checkpoint signaling and repair factors". FASEB J. 17 (13): 1842–8. doi:10.1096/fj.03-0310com. PMID 14519663.
- Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
- Rodriguez M, Yu X, Chen J, Songyang Z (2004). "Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains". J. Biol. Chem. 278 (52): 52914–8. doi:10.1074/jbc.C300407200. PMID 14578343.
- Mochan TA, Venere M, DiTullio RA, Halazonetis TD (2004). "53BP1 and NFBD1/MDC1-Nbs1 function in parallel interacting pathways activating ataxia-telangiectasia mutated (ATM) in response to DNA damage". Cancer Res. 63 (24): 8586–91. PMID 14695167.
- Lukas C, Melander F, Stucki M; et al. (2005). "Mdc1 couples DNA double-strand break recognition by Nbs1 with its H2AX-dependent chromatin retention". EMBO J. 23 (13): 2674–83. doi:10.1038/sj.emboj.7600269. PMID 15201865.
- Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935.
- Lou Z, Chen BP, Asaithamby A; et al. (2004). "MDC1 regulates DNA-PK autophosphorylation in response to DNA damage". J. Biol. Chem. 279 (45): 46359–62. doi:10.1074/jbc.C400375200. PMID 15377652.
- Polci R, Peng A, Chen PL; et al. (2005). "NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response". Cancer Res. 64 (24): 8800–3. doi:10.1158/0008-5472.CAN-04-2243. PMID 15604234.
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