Gene
Synonyms
KIAA0170 NFBD1
Protein Name
Mediator of DNA damage checkpoint protein 1
UniProt ID
Ensembl Gene ID
NCBI Gene ID
Molecular Weight
226666
Protein Length
2089
Protein Domain
3D Structure
(PDB ID : 2ado)
Target by Small Molecules
Protein-protein Interaction Database
Gene Expression
Drugs and Diseases
Enzyme Class
-
Catalytic Site
Localization
Nucleus,Chromosome;
Function
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:0005694; GO:0005925; GO:0016604; GO:0005654; GO:0005634; GO:0070975; GO:0042802; GO:0008022; GO:0006303; GO:0031573