Human Gene CDC6 (uc002huj.1) Description and Page Index
Description: Homo sapiens cell division cycle 6 (CDC6), mRNA. RefSeq Summary (NM_001254): 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. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.4610.1, AK313620.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000209728.9/ ENSP00000209728.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr17:38,444,146-38,459,413 Size: 15,268 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr17:38,445,673-38,458,253 Size: 12,581 Coding Exon Count: 11
ID:CDC6_HUMAN DESCRIPTION: RecName: Full=Cell division control protein 6 homolog; AltName: Full=CDC6-related protein; AltName: Full=Cdc18-related protein; Short=HsCdc18; AltName: Full=p62(cdc6); Short=HsCDC6; 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. INTERACTION: Q9H211:CDT1; NbExp=3; IntAct=EBI-374862, EBI-456953; 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:613805]. 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. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CDC6ID40014ch17q21.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc6/";
Genetic Association Studies of Complex Diseases and Disorders
Carcinoma, Hepatocellular|Liver Neoplasms Xing-Dong Xiong , et al. Mutation research 2008 643(1-2):70-4, A novel functional polymorphism in the Cdc6 promoter is associated with the risk for hepatocellular carcinoma., Mutation research 2008 643(1-2):70-4.
Pulmonary Disease, Chronic Obstructive Noriaki Takabatake , et al. Biochemical and biophysical research communications 2009 381(4):554-9, A novel polymorphism in CDC6 is associated with the decline in lung function of ex-smokers in COPD., Biochemical and biophysical research communications 2009 381(4):554-9.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99741
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000076 DNA replication checkpoint GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000082 G1/S transition of mitotic cell cycle GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000278 mitotic cell cycle GO:0006260 DNA replication GO:0006270 DNA replication initiation GO:0007049 cell cycle GO:0007089 traversing start control point of mitotic cell cycle GO:0008156 negative regulation of DNA replication GO:0008285 negative regulation of cell proliferation GO:0030071 regulation of mitotic metaphase/anaphase transition GO:0032467 positive regulation of cytokinesis GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity GO:0048146 positive regulation of fibroblast proliferation GO:0051301 cell division GO:0051984 positive regulation of chromosome segregation GO:1904117 cellular response to vasopressin GO:1904385 cellular response to angiotensin