Gene

Gene details

Summary of gene annotations and link-out to annotation databases

Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.

MDC1 - mediator of DNA damage checkpoint 1

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 H2AX. 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.

Uniprot Browser
Entrez IDEnsEMBL IDPreferred NameUniprot ID
9656 ENSG00000237095 MDC1 Q14676

Gene Regulons

List of regulons containing the gene.

A gene can be associated with multiple causal flows as a member of multiple regulons

RegulonProgram# genes# regulators# causal flows