| Gene |
MDC1
|
| Protein Name |
MDC1_HUMAN |
| Organism |
Homo sapiens (Human) |
| Alternative name(s) |
Mediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1) |
| Protein Family |
N/A |
| NCBI Gene ID |
9656
|
| UniProt ID |
Q14676
|
| Enzyme Class |
- |
| Molecular Weight |
226666 |
| Protein Length |
2089 |
| Protein Domain |
InterPro |
Pfam
|
| 3D Structure |
PDBe |
PDBj |
RCSB PDB |
DrugPort
ModBase |
SwissModel
|
| Gene Expression |
Gene Expression Atlas
|
| Function and Disease |
OMIM |
| Protein-protein Interaction Database |
STRING |
IntAct |
MINT
|
| Kinase Database |
Phospho.ELM
|
PhosphoSite
| NetworKIN
|
| Catalytic Activity (UniProt annotation) |
- |
| Localization |
Nucleus Note=Associated with chromatin. Relocalizes to discrete nuclear foci following DNA damage, this requires 'Ser-139' phosphorylation of H2AFX. Colocalizes with APTX at sites of DNA double-strand breaks. |
| Function (UniProt annotation) |
Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1. |
| Gene Ontology |
GO:0005634; GO:0005654; GO:0005694; GO:0005925; GO:0006303; GO:0008022; GO:0016604; GO:0031573; GO:0042802; GO:0070975 |
