Gene Information
Gene NameKIAA0170
OrganismHomo sapiens (Human)
Gene Length2089
Protein NamesMediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1)
Target NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBQ14676
Gene CardMDC1
Uniprot IDQ14676
PfamPF00498; PF16770
In ASDno
Allosteric PredictionNA
Ortholog in AnimalsNA
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityHighly expressed in testis. {ECO:0000269|PubMed:12499369}.
Pharmacological Animal ModelsNULL(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 classificationNA
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