MDC1 (Mediator of DNA Damage Checkpoint 1) is a DNA damage response protein that plays a crucial role in the recognition and repair of DNA double-strand breaks. MDC1 acts as a scaffold protein, recruiting repair factors to sites of DNA damage. It has been implicated in neurodegenerative diseases where DNA repair mechanisms are compromised.
Gene Information
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MDC1 — Mediator of DNA Damage Checkpoint 1
Gene Overview
Mermaid diagram (expand to render)
MDC1 (Mediator of DNA Damage Checkpoint 1) is a DNA damage response protein that plays a crucial role in the recognition and repair of DNA double-strand breaks. MDC1 acts as a scaffold protein, recruiting repair factors to sites of DNA damage. It has been implicated in neurodegenerative diseases where DNA repair mechanisms are compromised.
MDC1 is a key mediator protein in the DNA damage response (DDR) pathway. It functions as a molecular scaffold to recruit and retain DNA repair proteins at sites of DNA double-strand breaks.
Structural Features
FHA Domain: Forkhead-associated domain for protein interactions
BRCT Domains: Breast cancer C-terminal domains for phospho-Ser/Thr binding
SDT Repeats: Ser-Asp-Thr repeats for ATM phosphorylation sites
NBS1-Binding Region: Mediates interaction with NBS1/MRE11/RAD50 complex
Biological Functions
DNA Damage Recognition: Recognizes gamma-H2AX at DNA break sites
Scaffold Function: Recruits NBS1, BRCA1, and 53BP1 to damage sites
[53BP1](/genes/53bp1) - DNA damage response protein
References
[Thadathil et al., DNA damage in Alzheimer's disease (Aging Cell, 2022) (2022)](https://doi.org/10.1111/acel.13583)
[Schiller et al., DNA damage in Parkinson's disease (J. Neurochem., 2016) (2016)](https://pubmed.ncbi.nlm.nih.gov/26780389/)
[Goldberg et al., MDC1 and ATM (Nat. Rev. Cancer, 2003) (2003)](https://doi.org/10.1038/nrc1224)
[Unknown, Zhou & Zhu, Targeting DDR in cancer (J. Natl. Cancer Inst., 2020) (2020)](https://doi.org/10.1093/jnci/djaa051)
[Lou et al., MDC1-mediated DNA damage response (DNA Repair, 2019) (2019)](https://doi.org/10.1016/j.dnarep.2019.102684)
Pathway Diagram
The following diagram shows the key molecular relationships involving MDC1 — Mediator of DNA Damage Checkpoint 1 discovered through SciDEX knowledge graph analysis: