InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MDC1

Summary

InnateDB Gene

IDBG-76700.6

Last Modified

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

Gene Symbol

MDC1

Gene Name

mediator of DNA-damage checkpoint 1

Synonyms

NFBD1

Species

Homo sapiens

Ensembl Gene

ENSG00000137337

Encoded Proteins

IDBP-76702

mediator of DNA-damage checkpoint 1

IDBP-369281

mediator of DNA-damage checkpoint 1

IDBP-369289

mediator of DNA-damage checkpoint 1

IDBP-369292

mediator of DNA-damage checkpoint 1

IDBP-369293

mediator of DNA-damage checkpoint 1

IDBP-812626

mediator of DNA-damage checkpoint 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:30699807-30717889

Strand

Reverse strand

Band

p21.33

Transcripts

ENST00000376406	ENSP00000365588
ENST00000417033	ENSP00000408962
ENST00000416571	ENSP00000400979
ENST00000425072	ENSP00000396989
ENST00000422266	ENSP00000411310
ENST00000489540
ENST00000492462
ENST00000494654
ENST00000613547	ENSP00000483601

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