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GeneQ18034557· pop 7· linked from 15 articles

Also known as NFBD1, mediator of DNA damage checkpoint 1

Mediator of DNA damage checkpoint protein 1 is a 2080 amino acid long protein that in humans is encoded by the MDC1 gene located on the short arm (p) of chromosome 6. MDC1 protein is a regulator of the Intra-S phase and the G2/M cell cycle checkpoints and recruits repair proteins to the site of DNA damage. It is involved in determining cell survival fate in association with tumor suppressor protein p53. This protein also goes by the name Nuclear Factor with BRCT Domain 1 (NFBD1).

Gene data

MDC1
Name
mediator of DNA damage checkpoint 1
Type
protein-coding
Aliases
NFBD1

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].

via MyGene.info

Gene · Ensembl

mediator of DNA damage checkpoint 1

Symbol
MDC1
Biotype
Protein coding
Organism
Homo sapiens
Location
Chr HSCHR6_MHC_COX_CTG1:2,179,547-2,197,629
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image
Protein MDC1 PDB 2ado.png
Show 5 more facts
HomoloGene ID
67092
genomic start
30667584
genomic end
30717447
cytogenetic location
6p21.33
Sources (4)

via Wikidata · CC0

~9 min read

Article

11 sections
Contents
  • Function
  • Role in DNA damage response
  • Role in apoptosis
  • Role in meiosis
  • Loss of MDC1 protein
  • Interactions
  • Protein structure
  • Regulation
  • Role in cancer
  • References
  • Further reading

Mediator of DNA damage checkpoint protein 1 is a 2080 amino acid long protein that in humans is encoded by the MDC1 gene located on the short arm (p) of chromosome 6. MDC1 protein is a regulator of the Intra-S phase and the G2/M cell cycle checkpoints and recruits repair proteins to the site of DNA damage. It is involved in determining cell survival fate in association with tumor suppressor protein p53. This protein also goes by the name Nuclear Factor with BRCT Domain 1 (NFBD1).

== Function ==

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