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- Table of Contents
1 Citations 1 Q&As
Facts about Mediator of DNA damage checkpoint protein 1.
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.
Human | |
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Gene Name: | MDC1 |
Uniprot: | Q14676 |
Entrez: | 9656 |
Belongs to: |
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No superfamily |
DKFZp781A0122; Em:AB023051.5; KIAA0170MGC166888; MDC1; mediator of DNA damage checkpoint 1; mediator of DNA damage checkpoint protein 1; mediator of DNA-damage checkpoint 1; NFBD1; NFBD1homologue to Drosophila photoreceptor protein calphotin; Nuclear factor with BRCT domains 1
Mass (kDA):
226.666 kDA
Human | |
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Location: | 6p21.33 |
Sequence: | 6; NC_000006.12 (30699807..30717988, complement) |
Highly expressed in testis.
Nucleus. Chromosome. Associated with chromatin. Relocalizes to discrete nuclear foci following DNA damage, this requires 'Ser-139' phosphorylation of H2AX. Colocalizes with APTX at sites of DNA double-strand breaks.
PMID: 16702430 by Shiina T., et al. Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity.
PMID: 14695167 by Mochan T.A., et al. 53BP1 and NFBD1/MDC1-Nbs1 function in parallel interacting pathways activating ataxia-telangiectasia mutated (ATM) in response to DNA damage.
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