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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ACY1
aminoacylase 1
Chromosome 3 Β· 3p21.2
NCBI Gene: 95Ensembl: ENSG00000243989.10HGNC: HGNC:177UniProt: Q03154
68PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
aminoacylase activityprotein bindingextracellular exosomeidentical protein bindingAminoacylase 1 deficiencyNeurological conditions associated with aminoacylase 1 deficiencyIntellectual disabilitygenetic disorder
✦AI Summary

ACY1 (aminoacylase 1) encodes a homodimeric zinc-binding enzyme that catalyzes the hydrolysis of N-acetylated and N-formylated amino acids 1. The enzyme functions in protein degradation pathways, with N-acetylamino acids accumulating in urine when ACY1 is deficient 2. ACY1 is located on chromosome 3.1, a region frequently deleted in small cell lung cancer 1. The gene exhibits tumor suppressor properties, with reduced expression observed in various cancers including small cell lung cancer and colorectal cancer 13. In colorectal cancer, ACY1 expression paradoxically promotes tumor progression through ERK1 and TGF-Ξ²1 signaling pathways 3. ACY1 also plays a role in clear cell renal cell carcinoma, where it functions downstream of the MAGI2-AS3/HEY1 pathway to regulate angiogenesis 4. Clinically, ACY1 shows promise as a biomarker, with elevated plasma levels in colorectal cancer patients and reduced serum levels in schizophrenia patients and their siblings 32. The protein's ubiquitination status may serve as a prognostic marker in hepatocellular carcinoma 5.

Sources cited
1
ACY1 is a homodimeric zinc-binding enzyme that catalyzes hydrolysis of N-acylated amino acids and is located on chromosome 3p21.1
PMID: 8394326
2
ACY1 catalyzes hydrolysis during protein degradation and N-acetylamino acids accumulate in urine when deficient
PMID: 35791057
3
ACY1 promotes colorectal cancer progression through ERK1 and TGF-Ξ²1 signaling and has elevated plasma levels in patients
PMID: 28454420
4
ACY1 functions in the MAGI2-AS3/HEY1 pathway to regulate angiogenesis in clear cell renal cell carcinoma
PMID: 34002044
5
ACY1 ubiquitination levels may serve as prognostic biomarkers in hepatocellular carcinoma
PMID: 39348425
Disease Associationsβ“˜21
Aminoacylase 1 deficiencyOpen Targets
0.81Strong
Neurological conditions associated with aminoacylase 1 deficiencyOpen Targets
0.76Strong
Intellectual disabilityOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.45Moderate
toxic encephalopathyOpen Targets
0.37Weak
inborn aminoacylase deficiencyOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.22Weak
colorectal carcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
Nijmegen breakage syndromeOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.07Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.06Suggestive
maple syrup urine disease, mild variantOpen Targets
0.06Suggestive
sarcosinemiaOpen Targets
0.06Suggestive
transient familial neonatal hyperbilirubinemiaOpen Targets
0.05Suggestive
methylmalonic acidemia due to transcobalamin receptor defectOpen Targets
0.05Suggestive
Methylmalonic aciduria due to transcobalamin receptor defectOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.04Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.04Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.04Suggestive
Aminoacylase-1 deficiencyUniProt
Pathogenic Variants11
NM_000666.3(ACY1):c.561_562del (p.Phe187fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 187
NM_000666.3(ACY1):c.959C>G (p.Ser320Ter)Pathogenic
Aminoacylase 1 deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 320
NM_000666.3(ACY1):c.919C>T (p.Gln307Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 307
NM_000666.3(ACY1):c.160-1G>ALikely pathogenic
Aminoacylase 1 deficiency
β˜…β˜†β˜†β˜†2023
NM_000666.3(ACY1):c.369dup (p.Ala124fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 124
NM_000666.3(ACY1):c.734_735del (p.Glu245fs)Likely pathogenic
Aminoacylase 1 deficiency
β˜…β˜†β˜†β˜†2021β†’ Residue 245
NM_000666.3(ACY1):c.517del (p.Leu173fs)Likely pathogenic
ACY1-related disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 173
NM_000666.3(ACY1):c.1001_1001+5delPathogenic
Aminoacylase 1 deficiency
β˜†β˜†β˜†β˜†2014
NM_000666.3(ACY1):c.589C>T (p.Arg197Trp)Pathogenic
Aminoacylase 1 deficiency
β˜†β˜†β˜†β˜†2007β†’ Residue 197
NM_000666.3(ACY1):c.360-1G>APathogenic
Aminoacylase 1 deficiency
β˜†β˜†β˜†β˜†2006
NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs)Pathogenic
Aminoacylase 1 deficiency
β˜†β˜†β˜†β˜†2006β†’ Residue 369
View on ClinVar β†—
Related Genes
ACCSLShared pathway100%GOT1L1Shared pathway100%ACCSShared pathway100%SCLYShared pathway100%GCATShared pathway100%ASS1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
7%
Lung
5%
Brain
3%
Bone Marrow
2%
Heart
1%
Gene Interaction Network
Click a node to explore
ACY1ACCSLGOT1L1ACCSSCLYGCATASS1
PROTEIN STRUCTURE
Preparing viewer…
PDB1Q7L Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.53–0.90]
RankingsWhere ACY1 stands among ~20K protein-coding genes
  • #6,873of 20,598
    Most Researched68
  • #2,770of 5,498
    Most Pathogenic Variants11
  • #8,124of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedACY1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Integrated ubiquitomics characterization of hepatocellular carcinomas.
PMID: 39348425
Hepatology Β· 2025
1.00
2
A human gene encoding diazepam-binding inhibitor/acy1-CoA-binding protein: transcription and hormonal regulation in the androgen-sensitive human prostatic adenocarcinoma cell line LNCaP.
PMID: 8634149
DNA Cell Biol Β· 1996
0.90
3
The human chromosome 3 gene cluster ACY1-CACNA1D-ZNF64-ATP2B2 is evolutionarily conserved in Ateles paniscus chamek (Platyrrhini, Primates).
PMID: 9284946
Cytogenet Cell Genet Β· 1997
0.80
4
The pig aminoacylase 1 (ACY1) and ribosomal protein L29 (RPL29)/heparin/heparan sulfate interacting protein (HIP) genes are located together at 13q21-->q22, corresponding to human 3p21.1.
PMID: 10516434
Cytogenet Cell Genet Β· 1999
0.70
5
Study of the expression and function of ACY1 in patients with colorectal cancer.
PMID: 28454420
Oncol Lett Β· 2017
0.60