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MGP000481

UniProt Annotations

Entry Information
Gene Namecell division cycle 6
Protein EntryCDC6_HUMAN
UniProt IDQ99741
SpeciesHuman
Comments
Comment typeDescription
DiseaseMeier-Gorlin syndrome 5 (MGORS5) [MIM:613805]: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358632}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
InteractionP38936:CDKN1A; NbExp=2; IntAct=EBI-374862, EBI-375077; Q9H211:CDT1; NbExp=3; IntAct=EBI-374862, EBI-456953; P33993:MCM7; NbExp=2; IntAct=EBI-374862, EBI-355924;
SimilarityBelongs to the CDC6/cdc18 family. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000269|PubMed:9566895}. Cytoplasm {ECO:0000269|PubMed:9566895}. Note=The protein is nuclear in G1 and cytoplasmic in S-phase cells.
SubunitInteracts with PCNA, ORC1L, cyclin-CDK and HUWE1. {ECO:0000269|PubMed:17567951, ECO:0000269|PubMed:9566895}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CDC6ID40014ch17q21.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc6/";
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