ANAPC11
Anaphase Promoting Complex Subunit 11
Gene Information Card
| Symbol | ANAPC11 |
|---|---|
| Full Name | Anaphase Promoting Complex Subunit 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 51529 ncbi.nlm.nih.gov/gene/51529 |
| Ensembl ID | ENSG00000141526 |
| UniProt ID | Q9H1A4 |
| OMIM ID | 611473 |
| HGNC ID | 24052 |
| Aliases | APC11, HSPC214, MGC111024 |
Description
ANAPC11 encodes a core subunit of the anaphase-promoting complex/cyclosome (APC/C), a ubiquitin ligase that controls cell cycle progression by targeting specific proteins for degradation. The protein contains a RING-H2 finger domain essential for E3 ubiquitin ligase activity and interacts with UBE2C and UBE2S to mediate ubiquitination of substrates such as cyclin B1 and securin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Dysregulation of APC/C activity due to ANAPC11 overexpression may promote genomic instability and tumorigenesis. | PMID: 23431136 |
| Breast cancer | Altered ANAPC11 expression correlates with poor prognosis and mitotic defects. | PMID: 25691885 |
| Developmental disorders | Rare variants in ANAPC11 have been associated with microcephaly and intellectual disability. | PMID: 31006511 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| HEK293 | 25.4 | Embryonic kidney |
| MCF7 | 22.8 | Breast cancer cell line |
| HCT116 | 19.3 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Loss of ubiquitin ligase activity; associated with developmental delay |
| c.418G>A (p.Gly140Ser) | Missense | <0.01% | Impaired APC/C assembly |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations that disrupt RING domain integrity or protein stability reduce APC/C E3 ligase activity, leading to mitotic arrest and genomic instability.
Gain of Function (GOF)
Not reported for ANAPC11.
Dominant Negative (DN)
Some missense variants may interfere with wild-type subunit incorporation into APC/C, reducing complex activity.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin protein ligase activity | • anaphase-promoting complex binding |
| • protein ubiquitination | • cell cycle |
| • mitotic cell cycle |
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
ANAPC11 is a 84-amino acid protein containing a RING-H2 finger domain (C3H2C3 type) that coordinates two zinc ions. It serves as the catalytic core of the APC/C complex, recruiting E2 ubiquitin-conjugating enzymes and facilitating ubiquitin transfer to substrates. The protein is essential for metaphase-anaphase transition and mitotic exit.
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