InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MDC1

Summary

InnateDB Protein

IDBP-76702.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MDC1

Protein Name

mediator of DNA-damage checkpoint 1

Synonyms

NFBD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000365588

InnateDB Gene

IDBG-76700 (MDC1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12475977, ECO:0000269PubMed:12499369, ECO:0000269PubMed:12551934, ECO:0000269PubMed:12607003, ECO:0000269PubMed:12607004, ECO:0000269PubMed:12607005, ECO:0000269PubMed:12611903, ECO:0000269PubMed:14695167, ECO:0000269PubMed:15201865, ECO:0000269PubMed:15377652}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12475977, ECO:0000269PubMed:12499369, ECO:0000269PubMed:12551934, ECO:0000269PubMed:12607003, ECO:0000269PubMed:12607004, ECO:0000269PubMed:12607005, ECO:0000269PubMed:12611903, ECO:0000269PubMed:14695167, ECO:0000269PubMed:15201865, ECO:0000269PubMed:15377652, ECO:0000269PubMed:20008512}. Chromosome {ECO:0000250}. Note=Associated with chromatin. Relocalizes to discrete nuclear foci following DNA damage, this requires 'Ser-139' phosphorylation of H2AFX. Colocalizes with APTX at sites of DNA double-strand breaks.

Disease Associations

Tissue Specificity

Highly expressed in testis. {ECO:0000269PubMed:12499369}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 225 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	225 [view]
Protein-Protein	224 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0070975	FHA domain binding

Biological Process

GO:0000724	double-strand break repair via homologous recombination
GO:0006281	DNA repair
GO:0006302	double-strand break repair
GO:0031573	intra-S DNA damage checkpoint