ANAPC5: Anaphase Promoting Complex Subunit 5
A core component of the APC/C ubiquitin ligase complex regulating cell cycle progression
Gene Information Card
| Symbol | ANAPC5 |
|---|---|
| Full Name | Anaphase Promoting Complex Subunit 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 51433 ncbi.nlm.nih.gov/gene/51433 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9UJX3 |
| OMIM ID | 606948 |
| HGNC ID | 15718 |
| Aliases | APC5 |
Description
ANAPC5 encodes subunit 5 of the anaphase-promoting complex/cyclosome (APC/C), a multi-subunit E3 ubiquitin ligase that controls cell cycle progression by targeting specific proteins for degradation via the ubiquitin-proteasome pathway. The APC/C is essential for sister chromatid separation and mitotic exit. ANAPC5 is a structural component required for complex assembly and substrate recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered APC/C activity may disrupt cell cycle regulation, promoting genomic instability | COSMIC database reports somatic mutations in colorectal tumors |
| Neurodevelopmental disorder with microcephaly and seizures | Biallelic loss-of-function variants impair APC/C function, leading to defective mitotic progression and reduced brain size | ClinVar and OMIM: rare homozygous/compound heterozygous variants associated with intellectual disability and microcephaly |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.1 | High |
| Lymph node | 18.5 | Medium |
| Brain (cortex) | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 28.5 | Cervical cancer cell line; high expression consistent with proliferative state |
| HEK 293 | 22.3 | Embryonic kidney cells; moderate expression |
| K562 | 19.7 | Leukemia cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.626C>T (p.Pro209Leu) | Missense | <0.01% | Reported in ClinVar as variant of uncertain significance; may affect protein stability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; likely loss-of-function |
| c.1045_1046del (p.Glu349fs) | Frameshift | Rare | Predicted to cause premature truncation and nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants that abolish protein production or disrupt APC/C assembly are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANAPC5.
Dominant Negative (DN)
Missense mutations that impair complex assembly without complete loss may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin ligase complex | • anaphase-promoting complex |
| • cell cycle | • protein ubiquitination |
| • mitotic cell cycle | • sister chromatid cohesion |
Pathways
• Cell Cycle (KEGG hsa04110)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• APC/C-mediated degradation of cell cycle proteins (Reactome R-HSA-174178)
Protein Summary
ANAPC5 is a 755-amino acid protein (85 kDa) that serves as a scaffold within the APC/C complex. It contains multiple tetratricopeptide repeat (TPR) domains that mediate protein-protein interactions. The protein is essential for APC/C stability and substrate recruitment. Post-translational modifications include phosphorylation during mitosis, which regulates complex activity.
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