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Aliases for ACY1 Gene

Aliases for ACY1 Gene

  • Aminoacylase 1 2 3
  • N-Acyl-L-Amino-Acid Amidohydrolase 3 4
  • EC 4 63
  • ACY1D 3 6
  • ACY-1 3 4
  • Epididymis Secretory Protein Li 5 3
  • Aminoacylase-1 3
  • EC 3.5.1 63
  • HEL-S-5 3
  • Acylase 3

External Ids for ACY1 Gene

Previous GeneCards Identifiers for ACY1 Gene

  • GC03P051110
  • GC03P051270
  • GC03P051873
  • GC03P051976
  • GC03P051992
  • GC03P052009
  • GC03P052017

Summaries for ACY1 Gene

Entrez Gene Summary for ACY1 Gene

  • This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]

GeneCards Summary for ACY1 Gene

ACY1 (Aminoacylase 1) is a Protein Coding gene. Diseases associated with ACY1 include aminoacylase 1 deficiency and syringomyelia. Among its related pathways are Carbon metabolism and Arginine and proline metabolism. GO annotations related to this gene include metallopeptidase activity and aminoacylase activity. An important paralog of this gene is ABHD14A-ACY1.

UniProtKB/Swiss-Prot for ACY1 Gene

  • Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).

Gene Wiki entry for ACY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACY1 Gene

Genomics for ACY1 Gene

Regulatory Elements for ACY1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACY1 Gene

51,983,284 bp from pter
51,989,202 bp from pter
5,919 bases
Plus strand

Genomic View for ACY1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACY1 Gene

Proteins for ACY1 Gene

  • Protein details for ACY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • C9J6I6
    • C9J9D8
    • C9JWD4

    Protein attributes for ACY1 Gene

    408 amino acids
    Molecular mass:
    45885 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.;
    Quaternary structure:
    • Homodimer. Interacts with SPHK1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ACY1 Gene

    Alternative splice isoforms for ACY1 Gene


neXtProt entry for ACY1 Gene

Proteomics data for ACY1 Gene at MOPED

Post-translational modifications for ACY1 Gene

  • Ubiquitination at Lys332
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACY1 (Aminoacylase/ACY1)

Domains for ACY1 Gene

Protein Domains for ACY1 Gene

Suggested Antigen Peptide Sequences for ACY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M20A family.
  • Belongs to the peptidase M20A family.
genes like me logo Genes that share domains with ACY1: view

No data available for Gene Families for ACY1 Gene

Function for ACY1 Gene

Molecular function for ACY1 Gene

GENATLAS Biochemistry:
aminoacylase 1
UniProtKB/Swiss-Prot CatalyticActivity:
An N-acyl-aliphatic-L-amino acid + H(2)O = an aliphatic L-amino acid + a carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
An N-acetyl-L-cysteine-S-conjugate + H(2)O = an L-cysteine-S-conjugate + acetate.
UniProtKB/Swiss-Prot Function:
Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).

Enzyme Numbers (IUBMB) for ACY1 Gene

Gene Ontology (GO) - Molecular Function for ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004046 aminoacylase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ACY1: view

Phenotypes for ACY1 Gene

genes like me logo Genes that share phenotypes with ACY1: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACY1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACY1 Gene

Localization for ACY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACY1 Gene


Gene Ontology (GO) - Cellular Components for ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ACY1: view

No data available for Subcellular locations from COMPARTMENTS for ACY1 Gene

Pathways for ACY1 Gene

genes like me logo Genes that share pathways with ACY1: view

Pathways by source for ACY1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ACY1: view

Drugs for ACY1 Gene

(2) Drugbank Compounds for ACY1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
L-Aspartic Acid
  • (S)-2-aminobutanedioic acid
56-84-8 5960 Target approved, nutraceutical
  • (2R)-2-acetylamino-3-Sulfanylpropanoic acid
616-91-1 12035 Target ligand approved

(15) HMDB Compounds for ACY1 Gene

Compound Synonyms Cas Number PubMed IDs
Acetic acid
  • Acetate
Arachidic acid
  • Arachate
Arachidonic acid
  • (all-Z)-5,8,11,14-Eicosatetraenoate
Heptadecanoic acid
  • Heptadecanoate
Heptadecanoyl CoA
  • Heptadecanoate

(10) Novoseek inferred chemical compound relationships for ACY1 Gene

Compound -log(P) Hits PubMed IDs
glutaryl-7-aminocephalosporanic acid 93.9 7
7-aminocephalosporanic acid 88.9 3
cephalosporin c 86.7 2
n-acetylornithine 78.8 1
cephalosporin 51 1
genes like me logo Genes that share compounds with ACY1: view

Transcripts for ACY1 Gene

Unigene Clusters for ACY1 Gene

Aminoacylase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACY1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACY1 Gene

No ASD Table

Relevant External Links for ACY1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACY1 Gene

mRNA expression in normal human tissues for ACY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ACY1 Gene

This gene is overexpressed in Kidney (21.9) and Liver, secretome (21.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACY1 Gene

SOURCE GeneReport for Unigene cluster for ACY1 Gene Hs.334707

mRNA Expression by UniProt/SwissProt for ACY1 Gene

Tissue specificity: Expression is highest in kidney, strong in brain and weaker in placenta and spleen.
genes like me logo Genes that share expressions with ACY1: view

Expression partners for ACY1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ACY1 Gene

Orthologs for ACY1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACY1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ACY1 35
  • 88.74 (n)
  • 88.2 (a)
ACY1 36
  • 72 (a)
(Canis familiaris)
Mammalia ACY1 35
  • 87.96 (n)
  • 87.96 (a)
-- 36
  • 88 (a)
(Mus musculus)
Mammalia Acy1 35
  • 86.19 (n)
  • 85.29 (a)
Acy1 16
Acy1 36
  • 85 (a)
(Pan troglodytes)
Mammalia ACY1 35
  • 99.51 (n)
  • 100 (a)
(Rattus norvegicus)
Mammalia Acy1 35
  • 86.19 (n)
  • 87.75 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
(Gallus gallus)
Aves ACY1 35
  • 72 (n)
  • 69.75 (a)
-- 36
  • 68 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acy1.1 35
  • 61.5 (n)
  • 61.25 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68640 35
(Danio rerio)
Actinopterygii acy1 35
  • 64.16 (n)
  • 61.65 (a)
zgc55605 35
acy1 36
  • 59 (a)
CU896698.1 36
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17109 37
  • 44 (a)
CG17110 37
  • 44 (a)
CG6465 37
  • 49 (a)
CG6726 37
  • 46 (a)
CG6733 37
  • 44 (a)
CG6738 37
  • 44 (a)
CG6465 35
  • 55.87 (n)
  • 50.9 (a)
CG17109 36
  • 44 (a)
CG17110 36
  • 46 (a)
CG6465 36
  • 48 (a)
CG6726 36
  • 47 (a)
CG6733 36
  • 44 (a)
CG6738 36
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000679 35
  • 56.15 (n)
  • 47.58 (a)
(Caenorhabditis elegans)
Secernentea C06A6.4 37
  • 44 (a)
C10C5.3 37
  • 47 (a)
C10C5.4 37
  • 47 (a)
C10C5.5 37
  • 47 (a)
C06A6.4 35
  • 51.87 (n)
  • 48.47 (a)
C06A6.4 36
  • 46 (a)
C10C5.3 36
  • 46 (a)
C10C5.4 36
  • 47 (a)
C10C5.5 36
  • 47 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G38220 35
  • 53.02 (n)
  • 46.11 (a)
(Hordeum vulgare)
Liliopsida Hv.5352 35
(Triticum aestivum)
Liliopsida Ta.9380 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.566 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8209 36
  • 50 (a)
Species with no ortholog for ACY1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACY1 Gene

Gene Tree for ACY1 (if available)
Gene Tree for ACY1 (if available)

Paralogs for ACY1 Gene

Paralogs for ACY1 Gene

(1) SIMAP similar genes for ACY1 Gene using alignment to 4 proteins: Pseudogenes for ACY1 Gene

genes like me logo Genes that share paralogs with ACY1: view

Variants for ACY1 Gene

Sequence variations from dbSNP and Humsavar for ACY1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
VAR_065563 Aminoacylase-1 deficiency (ACY1D)
VAR_065562 Aminoacylase-1 deficiency (ACY1D)
VAR_051805 -
VAR_043114 Aminoacylase-1 deficiency (ACY1D)
VAR_043113 Aminoacylase-1 deficiency (ACY1D)

Structural Variations from Database of Genomic Variants (DGV) for ACY1 Gene

Variant ID Type Subtype PubMed ID
nsv520211 CNV Gain 19592680
nsv508922 CNV Insertion 20534489
nsv876780 CNV Loss 21882294
dgv5135n71 CNV Loss 21882294
nsv519445 CNV Gain+Loss 19592680

Relevant External Links for ACY1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACY1 Gene

Disorders for ACY1 Gene

(1) OMIM Diseases for ACY1 Gene (104620)


  • Aminoacylase-1 deficiency (ACY1D) [MIM:609924]: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. {ECO:0000269 PubMed:16274666, ECO:0000269 PubMed:16465618, ECO:0000269 PubMed:17562838, ECO:0000269 PubMed:21414403}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for ACY1 Gene

Disease -log(P) Hits PubMed IDs
carcinoma renal cell 33.3 2
cancer lung 17.7 1
small cell lung cancer 16.3 2
tumors 0 5
carcinoma 0 1
genes like me logo Genes that share disorders with ACY1: view

No data available for University of Copenhagen DISEASES , Genatlas and External Links for ACY1 Gene

Publications for ACY1 Gene

  1. Human aminoacylase-1. Cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer. (PMID: 8394326) Cook R.M. … Miller Y.E. (J. Biol. Chem. 1993) 3 4 23
  2. Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 family. (PMID: 12933810) Lindner H.A. … Menard R. (J. Biol. Chem. 2003) 3 4 23
  3. Aminoacylase I deficiency: a novel inborn error of metabolism. (PMID: 16274666) Van Coster R.N. … Lissens W. (Biochem. Biophys. Res. Commun. 2005) 3 4 23
  4. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. (PMID: 16465618) Sass J.O. … Omran H. (Am. J. Hum. Genet. 2006) 3 4 23
  5. Neurological findings in aminoacylase 1 deficiency. (PMID: 17562838) Sass J.O. … Omran H. (Neurology 2007) 3 4 23

Products for ACY1 Gene

Sources for ACY1 Gene

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