| Gene Symbol |
Mdc1
|
| Entrez Gene |
240087
|
| Alt Symbol |
6820401C03, AA413496, Nfbd1, mKIAA0170
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
mediator of DNA damage checkpoint 1
|
| Other Description |
mediation of DNA damage checkpoint 1|mediator of DNA damage checkpoint protein 1
|
| Swissprots |
Q52KG1 Q5PSV9 Q6ZQH7 Q5U4D3
|
| Accessions |
AAV85449 Q5PSV9 AK033009 AK129074 BAC97884 BC085140 AAH85140 BC094363 AAH94363 BY022698 XM_006524260 XP_006524323 XM_006524261 XP_006524324 XM_006524262 XP_006524325 XM_006524263 XP_006524326 XM_006524264 XP_006524327 XM_006536600 XP_006536663 XM_006536601 XP_006536664 XM_006536602 XP_006536665 XM_006536603 XP_006536666 XM_006536604 XP_006536667 XM_006537334 XP_006537397 XM_006537335 XP_006537398 XM_006537336 XP_006537399 XM_006537337 XP_006537400 XM_006537338 XP_006537401 XR_385325 NM_001010833 NP_001010833
|
| 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 (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Nucleus. Chromosome. Note=Associated with chromatin. Relocalizes to discrete nuclear foci following DNA damage, this requires phosphorylation of H2AFX. Colocalizes with APTX at sites of DNA double-strand breaks (By similarity). {ECO:0000250}.
|