| Gene Symbol |
MDC1
|
| Entrez Gene |
9656
|
| Alt Symbol |
NFBD1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
mediator of DNA-damage checkpoint 1
|
| Other Description |
homologue to Drosophila photoreceptor protein calphotin|mediator of DNA damage checkpoint 1|mediator of DNA damage checkpoint protein 1|nuclear factor with BRCT domains 1
|
| Swissprots |
Q68CQ3 B0S8A2 A2AB04 Q2L6H7 A7YY86 Q14676 Q5JP55 Q2TAZ4 A2BF04 Q86Z06 Q0EFC2 Q5ST83 A2RRA8 Q96QC2 Q5JP56
|
| Accessions |
BAB63322 BAC54931 BAE78617 BAF31266 CCQ43450 EAX03321 Q14676 AK298749 BAG60892 AK302434 BAG63736 BC110645 AAI10646 BC131491 BC152556 AAI52557 BU621433 CR749828 CAH18685 D79992 BAA11487 EF177820 ABM47418 EF177821 ABM47419 EF177822 ABM47420 EF177823 ABM47421 XM_005249492 XP_005249549 XM_005249493 XP_005249550 XM_005249494 XP_005249551 XM_005249497 XP_005249554 XM_005249498 XP_005249555 XM_005272909 XP_005272966 XM_005272910 XP_005272967 XM_005272911 XP_005272968 XM_005272914 XP_005272971 XM_005272915 XP_005272972 XM_005274899 XP_005274956 XM_005274900 XP_005274957 XM_005274901 XP_005274958 XM_005274904 XP_005274961 XM_005274905 XP_005274962 XM_005275065 XP_005275122 XM_005275066 XP_005275123 XM_005275067 XP_005275124 XM_005275070 XP_005275127 XM_005275071 XP_005275128 XM_005275196 XP_005275253 XM_005275321 XP_005275378 XM_005275322 XP_005275379 XM_005275323 XP_005275380 XM_005275326 XP_005275383 XM_005275327 XP_005275384 XM_005275492 XP_005275549 XM_005275493 XP_005275550 XM_005275494 XP_005275551 XM_005275497 XP_005275554 XM_005275498 XP_005275555 XM_005275629 XP_005275686 XM_005275630 XP_005275687 XM_005275631 XP_005275688 XM_005275634 XP_005275691 XM_005275635 XP_005275692 XM_011515001 XP_011513303 XM_011515002 XP_011513304 XM_011515003 XP_011513305 XM_011515004 XP_011513306 XM_011546326 XP_011544628 XM_011546327 XP_011544629 XM_011546328 XP_011544630 XM_011546329 XP_011544631 XM_011547334 XP_011545636 XM_011547335 XP_011545637 XM_011547336 XP_011545638 XM_011547337 XP_011545639 XM_011547731 XP_011546033 XM_011547732 XP_011546034 XM_011547733 XP_011546035 XM_011547734 XP_011546036 XM_011547947 XP_011546249 XM_011547948 XP_011546250 XM_011547949 XP_011546251 XM_011547950 XP_011546252 XM_011547951 XP_011546253 XM_011547952 XP_011546254 XM_011547953 XP_011546255 XM_011548120 XP_011546422 XM_011548121 XP_011546423 XM_011548122 XP_011546424 XM_011548123 XP_011546425 XM_011548318 XP_011546620 XM_011548319 XP_011546621 XM_011548320 XP_011546622 XM_011548321 XP_011546623 XM_011548504 XP_011546806 XM_011548505 XP_011546807 XM_011548506 XP_011546808 XM_011548507 XP_011546809 NM_014641 NP_055456
|
| 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. {ECO:0000269|PubMed:12475977, ECO:0000269|PubMed:12499369, ECO:0000269|PubMed:12551934, ECO:0000269|PubMed:12607003, ECO:0000269|PubMed:12607004, ECO:0000269|PubMed:12607005, ECO:0000269|PubMed:12611903, ECO:0000269|PubMed:14695167, ECO:0000269|PubMed:15201865, ECO:0000269|PubMed:15377652}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:12475977, ECO:0000269|PubMed:12499369, ECO:0000269|PubMed:12551934, ECO:0000269|PubMed:12607003, ECO:0000269|PubMed:12607004, ECO:0000269|PubMed:12607005, ECO:0000269|PubMed:12611903, ECO:0000269|PubMed:14695167, ECO:0000269|PubMed:15201865, ECO:0000269|PubMed:15377652, ECO:0000269|PubMed:20008512}. Chromosome {ECO:0000250}. 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.
|
| Tissue Specificity |
Highly expressed in testis. {ECO:0000269|PubMed:12499369}.
|