MDC1

From Wikipedia, the free encyclopedia


Mediator of DNA damage checkpoint 1
PDB rendering based on 2ado.
Available structures: 2ado, 2azm, 2etx
Identifiers
Symbol(s) MDC1; DKFZp781A0122; KIAA0170; NFBD1
External IDs OMIM: 607593 MGI: 3525201 HomoloGene: 67092
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 9656 240087
Ensembl ENSG00000137337 ENSMUSG00000061607
Uniprot Q14676 Q52KG1
Refseq NM_014641 (mRNA)
NP_055456 (protein)		 XM_001000545 (mRNA)
XP_001000545 (protein)
Location Chr 6: 30.78 - 30.79 Mb Chr 17: 35.45 - 35.47 Mb
Pubmed search [1] [2]

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]

[edit] References

  1. ^ a b Entrez Gene: MDC1 mediator of DNA damage checkpoint 1.

[edit] 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. 
 This article on a gene on chromosome 6 is a stub. You can help Wikipedia by expanding it.