ACYP1: Acylphosphatase 1
A small cytosolic enzyme involved in energy metabolism and cell differentiation
Gene Information Card
| Symbol | ACYP1 |
|---|---|
| Full Name | Acylphosphatase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 97 ncbi.nlm.nih.gov/gene/97 |
| Ensembl ID | ENSG00000119640 |
| UniProt ID | P14618 |
| OMIM ID | 171750 |
| HGNC ID | 180 |
| Aliases | ACYPE, acylphosphatase, erythrocyte isozyme |
Description
ACYP1 encodes acylphosphatase 1, a small cytosolic enzyme that catalyzes the hydrolysis of acylphosphates, such as 1,3-bisphosphoglycerate and succinyl-CoA, playing a role in energy metabolism and cell differentiation. The gene is located on chromosome 14q24.3 and is expressed in various tissues, with highest levels in heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence tumor metabolism and progression | PMID: 23455423 |
| Colorectal cancer | Downregulation associated with poor prognosis | PMID: 25642768 |
| Neuroblastoma | Potential role in differentiation and apoptosis | PMID: 17332331 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.2 | High |
| Liver | 4.8 | Medium |
| Kidney | 3.1 | Low |
| Brain | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | High expression |
| HeLa | 6.2 | Moderate expression |
| MCF7 | 4.5 | Low expression |
| HepG2 | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | 0.002% | Potential loss of catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the active site may reduce catalytic efficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • acylphosphatase activity | • hydrolase activity |
| • cytosol | • energy metabolism |
Pathways
• Glycolysis / Gluconeogenesis
• Metabolic pathways
Protein Summary
Acylphosphatase 1 is a 99-amino-acid protein that hydrolyzes acylphosphates, including 1,3-bisphosphoglycerate, thereby regulating glycolytic flux. It is highly expressed in heart and skeletal muscle and may play a role in cell differentiation and apoptosis. Structural studies reveal a compact alpha/beta fold with a conserved active site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACYP1 Knockout HEK293 Cell Line | EDJ-KQ50102 | Human | 97 | Details Get a Quote |
| ACYP1 Knockout HeLa Cell Line | EDJ-KQ52546 | Human | 97 | Details Get a Quote |
| ACYP1 Knockout A-549 Cell Line | EDJ-KQ61030 | Human | 97 | Details Get a Quote |
| ACYP1 Knockout HCT 116 Cell Line | EDJ-KQ69505 | Human | 97 | Details Get a Quote |
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