ANAPC7
Anaphase Promoting Complex Subunit 7
Gene Information Card
| Symbol | ANAPC7 |
|---|---|
| Full Name | Anaphase Promoting Complex Subunit 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 51434 ncbi.nlm.nih.gov/gene/51434 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9UJX3 |
| OMIM ID | 606949 |
| HGNC ID | 15713 |
| Aliases | APC7, APC7_HUMAN |
Description
ANAPC7 encodes subunit 7 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. APC/C is essential for sister chromatid separation and mitotic exit. ANAPC7 is a structural component that contributes to 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 uncontrolled proliferation. ANAPC7 mutations have been identified in tumor samples. | COSMIC; NCBI Gene |
| Breast cancer | Dysregulation of APC/C subunits, including ANAPC7, can affect mitotic progression and genomic stability. | COSMIC; NCBI Gene |
| Endometrial cancer | Somatic mutations in ANAPC7 have been reported, potentially contributing to tumorigenesis through impaired cell cycle control. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK 293 | 12.0 | Embryonic kidney cell line |
| K562 | 10.3 | Leukemia cell line |
| MCF7 | 9.8 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.1282G>A (p.Glu428Lys) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.1450_1451insA (p.Thr484Asnfs*2) | Frameshift | <0.1% | Predicted loss of function; truncating mutation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated or absent protein, impairing APC/C assembly and function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ANAPC7.
Dominant Negative (DN)
Missense mutations could potentially interfere with APC/C complex formation, but no dominant-negative effects have been confirmed.
View complete mutation data:
Gene Ontology (GO)
| • anaphase-promoting complex-dependent catabolic process | • cell division |
| • protein ubiquitination | • mitotic cell cycle phase transition |
| • ubiquitin ligase complex |
Pathways
• Cell Cycle (KEGG hsa04110)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• APC/C-mediated degradation of cell cycle proteins (Reactome R-HSA-174178)
Protein Summary
ANAPC7 is a 565-amino acid protein that serves as a structural subunit of the APC/C complex. It contains a tetratricopeptide repeat (TPR) domain, which mediates protein-protein interactions within the complex. ANAPC7 is essential for proper complex assembly and substrate recognition, particularly for the recruitment of coactivators CDC20 and CDH1. Its expression is ubiquitous, with higher levels in proliferating tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANAPC7 Knockout HEK293 Cell Line | EDJ-KQ11092 | Human | 51434 | Details Get a Quote |
| ANAPC7 Knockout A-549 Cell Line | EDJ-KQ39040 | Human | 51434 | Details Get a Quote |
| ANAPC7 Knockout HCT 116 Cell Line | EDJ-KQ39041 | Human | 51434 | Details Get a Quote |
| ANAPC7 Knockout HeLa Cell Line | EDJ-KQ39042 | Human | 51434 | Details Get a Quote |
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