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.

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 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
Displaying Records 1 To 4 Of 4 Records
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