ACY1

Chr 3p21.2

aminoacylase 1

MANE:: ENST00000636358.2

OMIM: 104620 ↗NCBI: 95 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ACY1 · Q03154

v62025-08-01

Predicted Aligned Error matrix for ACY1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.4/ 100

Very high

408 residues

Confidence breakdown

Very high(≥ 90)97%
Confident(70–90)2%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

aminoacylase 1 deficiency
0.78
Neurological conditions associated with aminoacylase 1 deficiency
0.75
Intellectual disability
0.47
hereditary disease
0.45
toxic encephalopathy
0.37
inborn aminoacylase deficiency
0.27
neurodegenerative disease
0.22
neuroblastoma
0.09
colorectal carcinoma
0.08
non-small cell lung carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Aminoacylase-1

Aminoacylase involved in the hydrolysis of N-acetylated and N-formylated amino acids. May act sequentially with APEH in the degradation of N-acylated peptides: APEH first cleaves N-acylaminoacids from N-acylated peptides, then ACY1 further hydrolyzes the N-acylaminoacid into free aminoacid and a carboxylate