ACY3: Aminoacylase 3 – Function, Mutations, and Disease Relevance
Comprehensive genomic and proteomic overview of ACY3, including expression, mutations, and clinical significance.
Gene Information Card
| Symbol | ACY3 |
|---|---|
| Full Name | Aminoacylase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 91703 ncbi.nlm.nih.gov/gene/91703 |
| Ensembl ID | ENSG00000110427 |
| UniProt ID | Q96HD9 |
| OMIM ID | 614411 |
| HGNC ID | 24103 |
| Aliases | ASP, ACY-3, N-acylamino acid amidohydrolase |
Description
ACY3 encodes aminoacylase 3, a cytosolic enzyme that catalyzes the hydrolysis of N-acylated amino acids (especially N-acetylaspartate) to acetate and free amino acids. It is highly expressed in kidney and liver and plays a role in amino acid metabolism. Mutations in ACY3 are associated with aminoacylase 3 deficiency, a rare autosomal recessive disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aminoacylase 3 deficiency | Loss-of-function mutations in ACY3 impair N-acetylaspartate deacetylation, leading to elevated urinary N-acetylamino acids and neurological symptoms. | ClinVar, OMIM |
| Renal cell carcinoma | Reduced ACY3 expression may contribute to metabolic dysregulation in kidney cancer. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Liver | 32.8 | High |
| Small intestine | 18.5 | Medium |
| Prostate | 12.1 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 28.7 | High expression |
| HepG2 | 22.1 | High expression |
| A549 | 8.3 | Moderate expression |
| MCF7 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | Missense | Rare | Loss of enzyme activity |
| c.389G>A (p.Arg130His) | Missense | Rare | Reduced catalytic efficiency |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro36Leu, p.Arg168Trp) reduce or abolish enzymatic activity, leading to aminoacylase 3 deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • aminoacylase activity | • N-acetylaspartate deacetylase activity |
| • zinc ion binding | • cytosol |
| • amino acid metabolic process |
Pathways
• Amino acid metabolism
• N-acetylaspartate metabolism
Protein Summary
Aminoacylase 3 is a 318-amino-acid zinc-dependent hydrolase that cleaves N-acetylated amino acids. It forms a homodimer and is predominantly expressed in kidney and liver. The enzyme is critical for the deacetylation of N-acetylaspartate, and its deficiency leads to accumulation of N-acetylamino acids in urine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACY3 Knockout HEK293 Cell Line | EDJ-KQ3434 | Human | 91703 | Details Get a Quote |
| ACY3 Knockout A-549 Cell Line | EDJ-KQ25160 | Human | 91703 | Details Get a Quote |
| ACY3 Knockout HeLa Cell Line | EDJ-KQ57809 | Human | 91703 | Details Get a Quote |
| ACY3 Knockout HCT 116 Cell Line | EDJ-KQ74729 | Human | 91703 | Details Get a Quote |
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