CDC27
cell division cycle 27
Summary
The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775321736 | 17:45,214,654 | C/T | — | pathogenic |
| rs62075621 | 17:45,214,673 | T/C | — | likely benign |
| rs11570532 | 17:45,217,338 | G/C | — | — |
| rs61749925 | 17:45,232,137 | T/C | — | likely benign |
| rs747953129 | 17:45,234,725 | T/A | — | likely benign |
| rs11570470 | 17:45,247,872 | T/A | intron variant | — |
| rs79048040 | 17:45,260,255 | G/T | — | — |
| rs1598637142 | 17:45,266,510 | A/G | — | uncertain significance |
| rs62077280 | 17:45,266,535 | T/C | — | uncertain significance |
| rs11570441 | 17:45,267,985 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.