MDC1 Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1. Highly expressed in testis. 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation
Chromosomal Location of human Ortholog: 6p21.33
Cellular Component:  chromosome; focal adhesion; nuclear body; nucleoplasm; nucleus
Molecular Function:  FHA domain binding; identical protein binding; protein binding; protein C-terminus binding
Biological Process:  double-strand break repair via nonhomologous end joining; intra-S DNA damage checkpoint
Reference #:  Q14676 (UniProtKB)
Alt. Names/Synonyms: DKFZp781A0122; homologue to Drosophila photoreceptor protein calphotin; KIAA0170; MDC1; mediator of DNA damage checkpoint 1; Mediator of DNA damage checkpoint protein 1; mediator of DNA-damage checkpoint 1; MGC166888; NFBD1; Nuclear factor with BRCT domains 1
Gene Symbols: MDC1
Molecular weight: 226,666 Da
Basal Isoelectric point: 5.35  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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