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Aliases for ACY1 Gene

Aliases for ACY1 Gene

  • Aminoacylase 1 2 3 5
  • N-Acyl-L-Amino-Acid Amidohydrolase 3 4
  • EC 4 61
  • ACY-1 3 4
  • Epididymis Secretory Protein Li 5 3
  • Aminoacylase-1 3
  • EC 3.5.1 61
  • HEL-S-5 3
  • Acylase 3
  • ACY1D 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 Metabolism and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include hydrolase 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

Enhancers for ACY1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F052044 1.6 FANTOM5 Ensembl ENCODE 1.6 +68.3 68345 14.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF416 ZNF143 GPR62 NT5DC2 RPL29 DUSP7 PCBP4 RAD54L2 WDR82 TWF2 ACY1 LOC105377089
GH03F051973 1.1 ENCODE 0.4 -8.1 -8138 3.8 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ZNF143 PARP3 NT5DC2 ABHD14A-ACY1 ACY1
GH03F051977 0.2 ENCODE 0.4 -5.7 -5679 0.2 ABHD14A-ACY1 ACY1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACY1 on UCSC Golden Path with GeneCards custom track

Promoters for ACY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ACY1 Gene

51,983,278 bp from pter
51,989,202 bp from pter
5,925 bases
Plus strand

Genomic View for ACY1 Gene

Genes around ACY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

Selected DME Specific Peptides for ACY1 Gene


Post-translational modifications for ACY1 Gene

  • Ubiquitination at Lys 332
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families 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 TAS --
GO:0005515 protein binding IPI 21044950
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IBA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ACY1: view
genes like me logo Genes that share phenotypes with ACY1: view

Human Phenotype Ontology for ACY1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Flow Cytometry Products

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

Localization for ACY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACY1 Gene


Subcellular locations from

Jensen Localization Image for ACY1 Gene COMPARTMENTS Subcellular localization image for ACY1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACY1 Gene

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

Pathways & Interactions for ACY1 Gene

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

Pathways by source for ACY1 Gene

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 IEA --
GO:0043171 peptide catabolic process IBA --
genes like me logo Genes that share ontologies with ACY1: view

No data available for SIGNOR curated interactions for ACY1 Gene

Drugs & Compounds for ACY1 Gene

(12) Drugs for ACY1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Acetylcysteine Approved Pharma Target, ligand Antioxidant;mucolytic agent 316
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 107
MYRISTIC ACID Experimental Pharma 0

(13) Additional Compounds for ACY1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2S)-2-acetamido-5-aminopentanoate
  • (2S)-2-acetamido-5-aminopentanoic acid
  • Acetyl-Ornithine
  • AOR
  • N(2)-Acetyl-L-ornithine
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
  • Aceglutamid
  • Aceglutamide
  • Acetylglutamine
  • alpha-N-Acetyl-L-glutamine
  • L-2-Acetamidoglutaramic acid
genes like me logo Genes that share compounds with ACY1: view

Transcripts for ACY1 Gene

Unigene Clusters for ACY1 Gene

Aminoacylase 1:
Representative Sequences:

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 from GTEx, Illumina, BioGPS, and SAGE for ACY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACY1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACY1 Gene

Protein tissue co-expression partners for ACY1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACY1 Gene:


SOURCE GeneReport for Unigene cluster for ACY1 Gene:


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 expression patterns with ACY1: view

Primer 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
(Pan troglodytes)
Mammalia ACY1 34
  • 99.51 (n)
(Bos Taurus)
Mammalia ACY1 34 35
  • 88.74 (n)
(Canis familiaris)
Mammalia -- 35
  • 88 (a)
ACY1 34
  • 87.96 (n)
(Mus musculus)
Mammalia Acy1 34 16 35
  • 86.19 (n)
(Rattus norvegicus)
Mammalia Acy1 34
  • 86.19 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
(Gallus gallus)
Aves ACY1 34
  • 72 (n)
-- 35
  • 68 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acy1.1 34
  • 61.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68640 34
(Danio rerio)
Actinopterygii acy1 34 35
  • 64.16 (n)
CU896698.1 35
  • 58 (a)
zgc55605 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000679 34
  • 56.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6465 36 34 35
  • 55.87 (n)
CG6726 36 35
  • 46 (a)
CG17109 36 35
  • 44 (a)
CG17110 36 35
  • 44 (a)
CG6733 36 35
  • 44 (a)
CG6738 36 35
  • 44 (a)
(Caenorhabditis elegans)
Secernentea C06A6.4 36 34 35
  • 51.87 (n)
C10C5.3 36 35
  • 47 (a)
C10C5.4 36 35
  • 47 (a)
C10C5.5 36 35
  • 47 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G38220 34
  • 53.02 (n)
(Hordeum vulgare)
Liliopsida Hv.5352 34
(Triticum aestivum)
Liliopsida Ta.9380 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8209 35
  • 50 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.566 34
Species where no ortholog for ACY1 was found in the sources mined by GeneCards:
  • 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
rs121912698 Aminoacylase-1 deficiency (ACY1D) [MIM:609924], Pathogenic 51,988,821(+) ATATC(C/T)GCGCG reference, missense
rs121912699 Aminoacylase-1 deficiency (ACY1D) [MIM:609924], Pathogenic 51,987,188(+) AAGGA(A/C)TGGCA intron-variant, reference, missense
rs121912700 Aminoacylase-1 deficiency (ACY1D) [MIM:609924], Pathogenic 51,986,993(+) GGGTG(C/T)GGGTT reference, missense
rs121912701 Pathogenic, Aminoacylase-1 deficiency (ACY1D) [MIM:609924] 51,989,026(+) TACAC(A/G)CCTGC reference, missense
rs148346337 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] 51,988,980(+) ATGAA(C/T)GGCTG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1003453 CNV gain 25217958
nsv508922 CNV insertion 20534489
nsv519445 CNV gain+loss 19592680
nsv520211 CNV gain 19592680
nsv954857 CNV deletion 24416366

Variation tolerance for ACY1 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACY1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ACY1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACY1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aminoacylase 1 deficiency
  • acy1 deficiency
greig cephalopolysyndactyly syndrome
  • polysyndactyly with peculiars skull shape
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards
Search ACY1 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for ACY1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ACY1: view

No data available for Genatlas for ACY1 Gene

Publications for ACY1 Gene

  1. Neurological findings in aminoacylase 1 deficiency. (PMID: 17562838) Sass J.O. … Omran H. (Neurology 2007) 3 4 22 64
  2. 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 22 64
  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 22 64
  4. 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 22 64
  5. The nucleotide sequence of human aminoacylase-1. (PMID: 8357837) Mitta M. … Tsunasawa S. (Biochim. Biophys. Acta 1993) 3 4 22 64

Products for ACY1 Gene

Sources for ACY1 Gene

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