CDC27
protein-codingcell division cycle 27, the group of Anaphase promoting complex |Tetratricopeptide repeat domain containing
Gene 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]
- D0S1430E
- D17S978E
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~71.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CDC27 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001256.6. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 11 | 13 | |||
| missense | 1 | 7 | 8 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 9 | 9 | ||||
| Total | 1 | 0 | 19 | 11 | 0 | 31 |
Highest pathogenic variant AF is 0.0000034254929
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001247.3 | 19 | MANE Select | |
| Ensembl | ENSP00000066544.3 | 19 | MANE Select | |
| RefSeq | NP_001107563.1 | 19 | Standard | |
| RefSeq | NP_001280018.1 | 19 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Cell cycle - Homo sapiens (human)
- Oocyte meiosis - Homo sapiens (human)
- Ubiquitin mediated proteolysis - Homo sapiens (human)
- HTLV-I infection - Homo sapiens (human)
- Progesterone-mediated oocyte maturation - Homo sapiens (human)
Biological Process
- metaphase/anaphase transition of mitotic cell cycle
- cell population proliferation
- anaphase-promoting complex-dependent catabolic process
- protein K11-linked ubiquitination
- regulation of mitotic cell cycle phase transition
Molecular Function
- protein binding
- protein phosphatase binding
Cellular Component
- nucleus
- nucleoplasm
- anaphase-promoting complex
- cytoplasm
- centrosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000531206
- Coding exons
- 19
- Length
- 71720
- Individuals with no LoFs
- 124558
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1152
- Defined
- 125710
- p
- 0.00459
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 3.20 | 211 | 388 | 0.543 | 0.0000186 | 5254 |
| Missense (PolyPhen) | 41 | 126.64 | 0.32374 | 1752 | ||
| Synonymous | 0.729 | 129 | 140 | 0.922 | 0.00000698 | 1501 |
| Loss of Function | 5.25 | 6 | 43.3 | 0.139 | 0.00000215 | 601 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0017 | 0.0015 | notable |
| Latino/Admixed American | 0.0080 | 0.0067 | notable |
| Ashkenazi Jewish | 0.012 | 0.0098 | notable |
| East Asian | 0.0043 | 0.0039 | notable |
| Finnish | 0.0046 | 0.0043 | notable |
| European (Non-Finnish) | 0.0041 | 0.0037 | notable |
| South Asian | 0.0070 | 0.0057 | notable |
| Other | 0.0075 | 0.0065 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. {ECO:0000269|PubMed:18485873}.;
Recessive Scores
- pRec
- 0.154
Intolerance Scores
- LoFtool
- 0.684
- RVIS EVS
- -0.12
- RVIS percentile EVS
- 44.89
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.741
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |