ANAPC1
Anaphase Promoting Complex Subunit 1
Gene Information Card
| Symbol | ANAPC1 |
|---|---|
| Full Name | Anaphase Promoting Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q13 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q9H1A4 |
| OMIM ID | 608473 |
| HGNC ID | 15732 |
| Aliases | APC1, TSG24 |
Description
ANAPC1 encodes subunit 1 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. APC/C targets specific proteins for degradation by the 26S proteasome, including securing and cyclins, thereby ensuring proper chromosome segregation and mitotic exit. ANAPC1 is the largest subunit and serves as a scaffold for complex assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rothmund-Thomson syndrome | Mutations in ANAPC1 impair APC/C function, leading to genomic instability and developmental defects. | ClinVar; OMIM |
| Colorectal cancer | Somatic mutations and copy number alterations in ANAPC1 are associated with tumorigenesis. | COSMIC; NCBI Gene |
| Breast cancer | Altered ANAPC1 expression and mutations contribute to cell cycle dysregulation. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 7.3 | Low |
| Heart | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK 293 | 14.1 | Embryonic kidney cells |
| MCF7 | 12.8 | Breast cancer cell line |
| HCT116 | 11.5 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Loss of function; premature stop |
| c.2345A>G (p.Tyr782Cys) | Missense | 0.2% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ANAPC1 lead to truncated or unstable proteins, impairing APC/C assembly and activity, resulting in mitotic arrest and genomic instability.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for ANAPC1.
Dominant Negative (DN)
Some missense mutations may produce a dominant-negative effect by disrupting APC/C complex formation, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin protein ligase activity | • anaphase-promoting complex |
| • cell cycle | • protein ubiquitination |
| • mitotic cell cycle |
Pathways
• Cell Cycle
• Mitotic
• APC/C-mediated degradation of cell cycle proteins
• Ubiquitin mediated proteolysis
Protein Summary
ANAPC1 is the largest subunit (approximately 216 kDa) of the anaphase-promoting complex/cyclosome (APC/C). It acts as a scaffold that organizes the assembly of other subunits and is essential for the E3 ubiquitin ligase activity of the complex. The protein contains multiple tetratricopeptide repeat (TPR) domains that mediate protein-protein interactions. ANAPC1 is highly conserved across eukaryotes and is critical for timely progression through mitosis and G1 phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANAPC16 Knockout HEK293 Cell Line | EDJ-KQ7640 | Human | 119504 | Details Get a Quote |
| ANAPC13 Knockout HEK293 Cell Line | EDJ-KQ8262 | Human | 25847 | Details Get a Quote |
| ANAPC16 Knockout A-549 Cell Line | EDJ-KQ33000 | Human | 119504 | Details Get a Quote |
| ANAPC16 Knockout HCT 116 Cell Line | EDJ-KQ33001 | Human | 119504 | Details Get a Quote |
| ANAPC16 Knockout HeLa Cell Line | EDJ-KQ33002 | Human | 119504 | Details Get a Quote |
| ANAPC13 Knockout A-549 Cell Line | EDJ-KQ34198 | Human | 25847 | Details Get a Quote |
| ANAPC13 Knockout HCT 116 Cell Line | EDJ-KQ34199 | Human | 25847 | Details Get a Quote |
| ANAPC13 Knockout HeLa Cell Line | EDJ-KQ34200 | Human | 25847 | Details Get a Quote |
| ANAPC1 Knockout HEK293 Cell Line | EDJ-KQ51623 | Human | 64682 | Details Get a Quote |
| ANAPC1 Knockout HeLa Cell Line | EDJ-KQ57071 | Human | 64682 | Details Get a Quote |
| ANAPC1 Knockout A-549 Cell Line | EDJ-KQ65582 | Human | 64682 | Details Get a Quote |
| ANAPC1 Knockout HCT 116 Cell Line | EDJ-KQ74012 | Human | 64682 | Details Get a Quote |
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