Version 5.4
Mus musculus Gene: Mdc1
Summary
InnateDB Gene IDBG-179187.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mdc1
Gene Name mediator of DNA damage checkpoint 1
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000061607
Encoded Proteins
IDBP-179189
mediator of DNA damage checkpoint 1
IDBP-628304
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 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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:35841515-35859670
Strand Forward strand
Band B1
Transcripts
ENSMUST00000082337 ENSMUSP00000080949
ENSMUST00000174124 ENSMUSP00000133568
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 173 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 173 [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:0006281 DNA repair
GO:0007049 cell cycle
Cellular Component
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005925 focal adhesion
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000137337
View Gene Order
ENSBTAG00000025526
Not yet available
Pathways
NETPATH
REACTOME
REACT_251314
ATM mediated phosphorylation of repair proteins pathway
REACT_230172
Recruitment of repair and signaling proteins to double-strand breaks pathway
REACT_238355
Double-Strand Break Repair pathway
REACT_233397
DNA Repair pathway
REACT_245922
Homologous Recombination Repair pathway
REACT_237642
ATM mediated response to DNA double-strand break pathway
REACT_251264
Homologous recombination repair of replication-independent double-strand breaks pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_24
TSLP pathway
REACTOME
REACT_97
Recruitment of repair and signaling proteins to double-strand breaks pathway
REACT_1924
ATM mediated phosphorylation of repair proteins pathway
REACT_204
ATM mediated response to DNA double-strand break pathway
REACT_1874
Homologous Recombination Repair pathway
REACT_2054
Double-Strand Break Repair pathway
REACT_1587
Homologous recombination repair of replication-independent double-strand breaks pathway
REACT_216
DNA Repair pathway
KEGG
INOH
PID NCI
atm_pathway
ATM pathway
Cross-References
SwissProt Q5PSV9
TrEMBL E9QK89 G3UX64
UniProt Splice Variant
Entrez Gene 240087
UniGene Mm.218511 Mm.406559
RefSeq NM_001010833 XM_006524260 XM_006524261 XM_006524262 XM_006536600 XM_006536601 XM_006536602 XM_006537334 XM_006537335 XM_006537336
OMIM
CCDS CCDS37604
HPRD
IMGT
MGI ID MGI:3525201
MGI Symbol Mdc1
EMBL AK129074 AY826432 BC085140 BC094363 CR974451
GenPept AAH85140 AAH94363 AAV85449 BAC97884
RNA Seq Atlas 240087

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca