CDC6

CDC6 (Cell Division Cycle 6) is a Protein Coding gene. Diseases associated with CDC6 include Meier-Gorlin Syndrome 5 and Meier-Gorlin Syndrome 1. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and E2F mediated regulation of DNA replication. Gene Ontology (GO) annotations related to this gene include nucleotide binding and kinase binding. An important paralog of this gene is ORC1.

Full Name

Cell Division Cycle 6

Function

Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.

Biological Process

Cell division Source: UniProtKB-KW
Cellular response to angiotensin Source: Ensembl
Cellular response to vasopressin Source: Ensembl
DNA replication Source: Reactome
DNA replication checkpoint Source: ProtInc
DNA replication initiation Source: Reactome
Mitotic cell cycle Source: UniProtKB
Mitotic DNA replication checkpoint Source: GO_Central
Negative regulation of cell population proliferation Source: ProtInc
Negative regulation of DNA replication Source: ProtInc
Positive regulation of chromosome segregation Source: BHF-UCL
Positive regulation of cyclin-dependent protein serine/threonine kinase activity Source: Ensembl
Positive regulation of cytokinesis Source: BHF-UCL
Positive regulation of fibroblast proliferation Source: Ensembl
Pre-replicative complex assembly Source: Reactome
Regulation of cyclin-dependent protein serine/threonine kinase activity Source: ProtInc
Regulation of mitotic metaphase/anaphase transition Source: BHF-UCL
Regulation of transcription involved in G1/S transition of mitotic cell cycle Source: Reactome
Traversing start control point of mitotic cell cycle Source: ProtInc

Cellular Location

Nucleus; Cytoplasm. The protein is nuclear in G1 and cytoplasmic in S-phase cells (PubMed:9566895).

Involvement in disease

Meier-Gorlin syndrome 5 (MGORS5): 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.