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Mdc1

mediator of DNA damage checkpoint 1

On chromosome: 17
Known also as: Nfbd1; AA413496; mKIAA0170; 6820401C03;


NCBI Gene ID: 240087
NCBI Ensembl Id: ENSMUSG00000061607
Species: Mus musculus

The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 7 divergent copies 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. Mice with mutations in this gene exhibit growth retardation, male infertility, immune defects, chromosome instability, DNA repair defects, and radiation sensitivity. [provided by RefSeq]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Polci R, Peng A, Chen PL, Riley DJ, Chen Y NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response. Cancer Res Dec. 15, 2004
Spycher C, Miller ES, Townsend K, Pavic L, Morrice NA, Janscak P, Stewart GS, Stucki M Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin. J Cell Biol April 21, 2008
Minter-Dykhouse K, Ward I, Huen MS, Chen J, Lou Z Distinct versus overlapping functions of MDC1 and 53BP1 in DNA damage response and tumorigenesis. J Cell Biol June 2, 2008
Savic V, Yin B, Maas NL, Bredemeyer AL, Carpenter AC, Helmink BA, Yang-Iott KS, Sleckman BP, Bassing CH Formation of dynamic gamma-H2AX domains along broken DNA strands is distinctly regulated by ATM and MDC1 and dependent upon H2AX densities in chromatin. Mol Cell May 15, 2009
Shibata A, Barton O, Noon AT, Dahm K, Deckbar D, Goodarzi AA, Lobrich M, Jeggo PA Role of ATM and the damage response mediator proteins 53BP1 and MDC1 in the maintenance of G(2)/M checkpoint arrest. Mol Cell Biol July 1, 2010

Last modification of this entry: Oct. 6, 2010.

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