APEH (Acylaminoacyl-Peptide Hydrolase)
A serine peptidase involved in protein degradation and potential tumor suppression.
Gene Information Card
| Symbol | APEH |
|---|---|
| Full Name | Acylaminoacyl-Peptide Hydrolase |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 327 ncbi.nlm.nih.gov/gene/327 |
| Ensembl ID | ENSG00000164024 |
| UniProt ID | P13798 |
| OMIM ID | 102520 |
| HGNC ID | 596 |
| Aliases | ACPH, APH, D3S48E, OPH |
Description
APEH encodes a serine-type peptidase that catalyzes the removal of N-acetylated amino acids from blocked peptides, playing a role in protein degradation and turnover. The gene is located on chromosome 3p21.31, a region frequently deleted in various cancers, suggesting a potential tumor suppressor function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (lung, breast, renal) | Loss of heterozygosity at 3p21.31 may reduce APEH expression, impairing protein quality control and promoting tumorigenesis. | COSMIC; NCBI Gene |
| Autoimmune/inflammatory conditions | Altered APEH activity may affect processing of N-acetylated peptides involved in immune regulation. | UniProt; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 14.0 | Highest expression among tested lines |
| HEK 293 (embryonic kidney) | 11.5 | High |
| A549 (lung) | 6.8 | Moderate |
| MCF7 (breast) | 5.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, reduced protein expression |
| c.632C>T (p.Thr211Met) | Missense | <0.01% | Unknown functional effect |
| c.1045G>A (p.Gly349Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations or deletions at 3p21.31 reduce APEH activity, linked to cancer progression.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • peptidase activity (GO:0008233) | • exopeptidase activity (GO:0008238) |
| • proteolysis (GO:0006508) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Protein degradation (N-terminal acetylation processing)
• Cellular response to stress
Protein Summary
APEH is a 732-amino-acid serine peptidase that removes N-acetylated amino acids from peptides, facilitating their further degradation. It is widely expressed, with highest levels in liver and kidney. The enzyme is localized to both cytoplasm and nucleus, and its activity is implicated in protein quality control and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APEH Knockout HEK293 Cell Line | EDJ-KQ4068 | Human | 327 | Details Get a Quote |
| APEH Knockout A-549 Cell Line | EDJ-KQ26438 | Human | 327 | Details Get a Quote |
| APEH Knockout HCT 116 Cell Line | EDJ-KQ26439 | Human | 327 | Details Get a Quote |
| APEH Knockout HeLa Cell Line | EDJ-KQ26440 | Human | 327 | Details Get a Quote |
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