Mdc1 Gene Summary [Mouse]

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]

Details

Type
Protein Coding
Official Symbol
Mdc1
Official Name
mediator of DNA damage checkpoint 1 [Source:MGI Symbol;Acc:MGI:3525201]
Ensembl ID
ENSMUSG00000061607
Bio databases IDs NCBI: 240087 Ensembl: ENSMUSG00000061607
Aliases mediator of DNA damage checkpoint 1
Synonyms 6820401C03, mediator of DNA damage checkpoint 1, mKIAA0170, NFBD1
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mdc1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Family of unknown function (DUF5585)
  • BRCT
  • Inner membrane component of T3SS, cytoplasmic domain
  • Regulator of Ty1 transposition protein 107 BRCT domain
  • FHA domain
  • BRCA1 C Terminus (BRCT) domain
  • protein binding activity, bridging
  • Forkhead associated domain
  • Domain of unknown function (DUF4775)
  • protein binding
  • breast cancer carboxy-terminal domain
  • forkhead associated (FHA) domain superfamily

Pathways

Biological processes and signaling networks where the Mdc1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • medullary thyroid carcinoma
  • gastrointestinal neoplasia
  • medullary thyroid cancer
regulated by
regulates
role in cell
  • quantity
  • phosphorylation in
  • formation
  • formation in
  • survival
  • cell death
  • G2/M phase
  • induction in
  • apoptosis
  • S phase checkpoint control

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • chromatin fraction
  • focal adhesions
  • nuclear foci
  • chromosome
  • nucleoplasm
  • nuclear bodies

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Mdc1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • DNA replication checkpoint
  • positive regulation of transcription initiation from RNA polymerase II promoter
  • intra-S DNA damage checkpoint
  • response to DNA damage stimulus
  • chromatin organization

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • site of double-strand break
  • nuclear body
  • focal adhesion
  • chromosome
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

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