ANAPC4
Anaphase Promoting Complex Subunit 4
Gene Information Card
| Symbol | ANAPC4 |
|---|---|
| Full Name | Anaphase Promoting Complex Subunit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 29945 ncbi.nlm.nih.gov/gene/29945 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q9UJX5 |
| OMIM ID | 606947 |
| HGNC ID | 15724 |
| Aliases | APC4, MGC2463 |
Description
ANAPC4 encodes subunit 4 of the anaphase-promoting complex/cyclosome (APC/C), a multi-subunit E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle by targeting cell cycle regulators for proteasomal degradation. The APC/C complex is activated by Cdc20 or Cdh1 and mediates ubiquitination of securin and cyclin B, among other substrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations in ANAPC4 may impair APC/C function, leading to chromosomal instability and aneuploidy. | COSMIC; PMID: 23540691 |
| Breast cancer | Altered expression of ANAPC4 has been observed in breast tumors, potentially affecting mitotic checkpoint control. | NCBI Gene; PMID: 21804562 |
| Endometrial cancer | Recurrent mutations in ANAPC4 identified in endometrial cancer samples suggest a role in tumorigenesis. | COSMIC; PMID: 23540691 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 19.8 | Medium |
| Lymph node | 17.2 | Medium |
| Bone marrow | 15.6 | Medium |
| Brain | 12.3 | Medium |
| Liver | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| HEK 293 | 16.2 | Embryonic kidney cells |
| K562 | 14.7 | Leukemia cell line |
| MCF7 | 13.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.567_568insA (p.Gln190Thrfs*12) | Frameshift | <0.01% | Predicted loss of function |
| c.890C>T (p.Thr297Met) | Missense | <0.01% | Reported in ClinVar as variant of uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of function, impairing APC/C assembly or activity.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for ANAPC4.
Dominant Negative (DN)
Missense mutations in conserved domains may exert dominant-negative effects by disrupting complex formation, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • anaphase-promoting complex-dependent catabolic process | • protein ubiquitination |
| • cell cycle | • mitotic cell cycle |
| • ubiquitin ligase complex |
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• APC/C-mediated degradation of cell cycle proteins (Reactome: R-HSA-174178)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
ANAPC4 is a core component of the APC/C complex, essential for its structural integrity and substrate recognition. The protein contains a tetratricopeptide repeat (TPR) domain that mediates protein-protein interactions within the complex. It localizes to the nucleus and cytoplasm and is required for proper mitotic progression.
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