background:
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins.
Function:
Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
Subunit:
Interacts with PCNA, ORC1L, cyclin-CDK and HUWE1.
Subcellular Location:
Nucleus. Cytoplasm. Note=The protein is nuclear in G1 and cytoplasmic in S-phase cells.
DISEASE:
Defects in CDC6 are the cause of Meier-Gorlin syndrome type 5 (MGORS5) [MIM:62765]. MGORS5 is 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.
Similarity:
Belongs to the CDC6/cdc18 family.
Database links:
UniProtKB/Swiss-Prot: Q99741.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
细胞分裂周期蛋白6也是细胞周期调节蛋白，是真核生物DNA复制的主要调控因子,参与构成DNA前复制复合物。
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