| Gene Information | |
|---|---|
| Gene Name | MDC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2089 |
| Protein Names | Mediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000137337 ) 3 ( ENSG00000206481 ) 3 ( ENSG00000224587 ) 3 ( ENSG00000225589 ) 3 ( ENSG00000228575 ) 3 ( ENSG00000231135 ) 3 ( ENSG00000234012 ) 3 ( ENSG00000237095 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q14676 |
| Gene Card | MDC1 |
| Uniprot ID | Q14676 |
| Pfam | PF00498; PF16770 |
| In ASD | no |
| Allosteric Prediction | no (-0.385237838) |
| Ortholog in Animals | Alpaca_ MDC1 ( ortholog_one2one ) Dog_ MDC1 ( ortholog_one2one ) Macaque_ MDC1 ( ortholog_one2one ) Mouse_ Mdc1 ( ortholog_one2one ) Pig_ MDC1 ( ortholog_one2one ) Rat_ Mdc1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | PAXIP1 |
| Tissue | NA |
| Tissue Specificity | Highly expressed in testis. {ECO:0000269|PubMed:12499369}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.040743(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2ADO (X-ray 1.45A ) 2AZM (X-ray 2.41A ) 2ETX (X-ray 1.33A ) 3K05 (X-ray 1.33A ) 3UEO (X-ray 2.60A ) 3UMZ (X-ray 1.65A ) 3UN0 (X-ray 2.30A ) 3UNM (X-ray 1.80A ) 3UNN (X-ray 1.70A ) 3UOT (X-ray 1.80A ) |
| DBSNP | rs28986464 rs2517560 rs9262152 rs2075015 rs28986465 rs58344693 rs2844707 rs28986467 rs28994869 rs28987085 rs9461623 rs3132589 rs3130645 rs17292678 rs28994871 rs28994873 rs28994874 rs28994875 rs28994876 |
| Subcellular location [CC] | 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 H2AX. Colocalizes with APTX at sites of DNA double-strand breaks. |
| Mouse PG classification | NA |
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