Human Gene CDC6 (ENST00000209728.9) from GENCODE V44
Description: Homo sapiens cell division cycle 6 (CDC6), mRNA. (from RefSeq NM_001254) 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. Gencode Transcript: ENST00000209728.9 Gencode Gene: ENSG00000094804.12 Transcript (Including UTRs) Position: hg38 chr17:40,287,879-40,304,657 Size: 16,779 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr17:40,289,421-40,302,001 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/";
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
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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
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04110 - Cell cycle
BioCarta from NCI Cancer Genome Anatomy Project h_mcmPathway - CDK Regulation of DNA Replication
Reactome (by CSHL, EBI, and GO)
Protein Q99741 (Reactome details) participates in the following event(s):
R-HSA-68688 CDC6 association with ORC:origin complexes mediated by MCM8 R-HSA-69005 Cdc6 protein is phosphorylated by CDK R-HSA-69015 Cytoplasmic phosphorylated Cdc6 is ubiquitinated by the anaphase-promoting complex R-HSA-69006 Phosphorylated Cdc6 is exported from the nucleus R-HSA-68826 Free CDT1 associates with CDC6:ORC:origin complexes R-HSA-68944 Orc1 is phosphorylated by cyclin A/CDK2 R-HSA-68849 Mcm2-7 associates with the Cdt1:CDC6:ORC:origin complex, forming the pre-replicative complex (preRC) R-HSA-68919 Mcm10 associates with the pre-replicative complex, stabilizing Mcm2-7 R-HSA-68918 CDK and DDK associate with the Mcm10:pre-replicative complex R-HSA-68940 Cdt1 is displaced from the pre-replicative complex. R-HSA-68917 Cdc45 associates with the pre-replicative complex at the origin R-HSA-68916 DNA Replication Factor A (RPA) associates with the pre-replicative complex at the origin R-HSA-176318 Loading of claspin onto DNA during replication origin firing R-HSA-176298 Activation of claspin R-HSA-68689 CDC6 association with the ORC:origin complex R-HSA-69017 CDK-mediated phosphorylation and removal of Cdc6 R-HSA-539107 Activation of E2F1 target genes at G1/S R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex R-HSA-68827 CDT1 association with the CDC6:ORC:origin complex R-HSA-68949 Orc1 removal from chromatin R-HSA-68867 Assembly of the pre-replicative complex R-HSA-69052 Switching of origins to a post-replicative state R-HSA-69205 G1/S-Specific Transcription R-HSA-1538133 G0 and Early G1 R-HSA-69002 DNA Replication Pre-Initiation R-HSA-69239 Synthesis of DNA R-HSA-69206 G1/S Transition R-HSA-453279 Mitotic G1-G1/S phases R-HSA-68962 Activation of the pre-replicative complex R-HSA-68874 M/G1 Transition R-HSA-69242 S Phase R-HSA-69306 DNA Replication R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle R-HSA-176187 Activation of ATR in response to replication stress R-HSA-69481 G2/M Checkpoints R-HSA-69620 Cell Cycle Checkpoints
US Server
