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    ACY1 aminoacylase 1 [ Homo sapiens (human) ]

    Gene ID: 95, updated on 2-Mar-2024

    Summary

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    Official Symbol
    ACY1provided by HGNC
    Official Full Name
    aminoacylase 1provided by HGNC
    Primary source
    HGNC:HGNC:177
    See related
    Ensembl:ENSG00000243989 MIM:104620; AllianceGenome:HGNC:177
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACY-1; ACY1D; HEL-S-5
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 217.1), duodenum (RPKM 77.7) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p21.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51983535..51989197)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52016455..52022117)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52017551..52023213)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002001-52002564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002565-52003126 Neighboring gene abhydrolase domain containing 14B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52007254-52008190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14424 Neighboring gene ABHD14A-ACY1 readthrough Neighboring gene Sharpr-MPRA regulatory region 207 Neighboring gene abhydrolase domain containing 14A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52015181-52015682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52024676-52025348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52025349-52026021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52027370-52028102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19923 Neighboring gene ribosomal protein L29 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52038485-52039365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52049045-52049924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52052748-52053510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52053511-52054273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19925 Neighboring gene Sharpr-MPRA regulatory region 12856 Neighboring gene uncharacterized LOC105377088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52065550-52066066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52066067-52066581

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor β (TGF-β) Signaling Pathways. Chen Z, et al. Med Sci Monit, 2021 Feb 23. PMID 33619241, Free PMC Article
    2. Identification and clinical significance of an elevated level of serum aminoacylase-1 autoantibody in patients with hepatitis B virus-related liver cirrhosis. He X, et al. Mol Med Rep, 2016 Nov. PMID 27633755
    3. Proteomics-based identification of the tumor suppressor role of aminoacylase 1 in hepatocellular carcinoma. Wei X, et al. Cancer Lett, 2014 Aug 28. PMID 24846301
    4. Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Ferri L, et al. Clin Genet, 2014 Oct. PMID 24117009
    5. Serum aminoacylase-1 is a novel biomarker with potential prognostic utility for long-term outcome in patients with delayed graft function following renal transplantation. Welberry Smith MP, et al. Kidney Int, 2013 Dec. PMID 23739232, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by regulating ACY1 via interacting with transcription factor HEY1 in clear cell renal cell carcinoma.
      Title: LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by regulating ACY1 via interacting with transcription factor HEY1 in clear cell renal cell carcinoma.
    2. Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor beta (TGF-beta) Signaling Pathways.
      Title: Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor β (TGF-β) Signaling Pathways.
    3. with the elevated level in the disease progression of Chronic hepatitis B (CHB), ACY1 autoantibody may be a valuable serum biomarker for discriminating HBVrelated liver cirrhosis from CHB.
      Title: Identification and clinical significance of an elevated level of serum aminoacylase-1 autoantibody in patients with hepatitis B virus-related liver cirrhosis.
    4. Biochemical analysis showed absence of ACY1 enzyme activity in the patient's fibroblasts.
      Title: Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
    5. ACY1 acts as a tumor suppressor in hepatocellular carcinoma.
      Title: Proteomics-based identification of the tumor suppressor role of aminoacylase 1 in hepatocellular carcinoma.
    6. Report serum aminoacylase-1 as a novel biomarker with potential prognostic utility for long-term outcome in renal transplant recipients with delayed graft function.
      Title: Serum aminoacylase-1 is a novel biomarker with potential prognostic utility for long-term outcome in patients with delayed graft function following renal transplantation.
    7. We concluded that ACY1 expression in colorectal cancer varies with stage and appears to play a role in cell proliferation and apoptosis
      Title: Overexpression of aminoacylase 1 is associated with colorectal cancer progression.
    8. These data suggest that aminoacylase expression is dysregulated in neuroblastoma.
      Title: Differential aminoacylase expression in neuroblastoma.
    9. aminoacylase 1 proteins with the mutations p.Arg378Trp, p.Arg378Gln and p.Arg393His were also detected in Western blot analysis
      Title: The molecular basis of aminoacylase 1 deficiency.
    10. T347S variant of human Acy1 exhibited markedly increased catalytic efficiency against N-benzoylamino acids
      Title: Probing the acyl-binding pocket of aminoacylase-1.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Aminoacylase 1 deficiency
    MedGen: C1835922 OMIM: 609924 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminoacylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aminoacylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    aminoacylase-1
    Names
    N-acyl-L-amino-acid amidohydrolase
    acylase
    epididymis secretory protein Li 5
    NP_000657.1
    NP_001185824.1
    NP_001185825.1
    NP_001185826.1
    NP_001185827.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012036.1 RefSeqGene

      Range
      4989..10651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000666.3 → NP_000657.1  aminoacylase-1 isoform a

      See identical proteins and their annotated locations for NP_000657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode isoform a.
      Source sequence(s)
      BE269642, L07548
      Consensus CDS
      CCDS2844.1
      UniProtKB/Swiss-Prot
      C9J6I6, C9J9D8, C9JWD4, Q03154
      UniProtKB/TrEMBL
      A0A1B0GU86, V9HWA0
      Related
      ENSP00000490149.1, ENST00000636358.2
      Conserved Domains (1) summary
      TIGR01880
      Location:1 → 401
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase

    2. NM_001198895.2 → NP_001185824.1  aminoacylase-1 isoform a

      See identical proteins and their annotated locations for NP_001185824.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode isoform a.
      Source sequence(s)
      BE269642, D16307, L07548
      Consensus CDS
      CCDS2844.1
      UniProtKB/Swiss-Prot
      C9J6I6, C9J9D8, C9JWD4, Q03154
      UniProtKB/TrEMBL
      A0A1B0GU86, V9HWA0
      Related
      ENSP00000384296.2, ENST00000404366.7
      Conserved Domains (1) summary
      TIGR01880
      Location:1 → 401
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase

    3. NM_001198896.2 → NP_001185825.1  aminoacylase-1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      CD014023
      Consensus CDS
      CCDS56261.1
      UniProtKB/TrEMBL
      A0A1B0GU86
      Related
      ENSP00000417618.1, ENST00000494103.5
      Conserved Domains (2) summary
      TIGR01880
      Location:1 → 329
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
      cl14876
      Location:9 → 327
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    4. NM_001198897.2 → NP_001185826.1  aminoacylase-1 isoform c

      See identical proteins and their annotated locations for NP_001185826.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      CD014026
      Consensus CDS
      CCDS56262.1
      UniProtKB/TrEMBL
      A0A1B0GU86
      Related
      ENSP00000419262.1, ENST00000476854.5
      Conserved Domains (1) summary
      cl27543
      Location:1 → 336
      PRK13004; peptidase; Reviewed

    5. NM_001198898.2 → NP_001185827.1  aminoacylase-1 isoform d

      See identical proteins and their annotated locations for NP_001185827.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice site, resulting in the loss of an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      CD014027
      Consensus CDS
      CCDS56263.1
      UniProtKB/TrEMBL
      A0A1B0GU86
      Related
      ENSP00000417056.1, ENST00000476351.5
      Conserved Domains (2) summary
      cd05646
      Location:9 → 364
      M20_AcylaseI_like; M20 Aminoacylase-I like subfamily
      TIGR01880
      Location:1 → 366
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      51983535..51989197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52016455..52022117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03154.1 GenPept UniProtKB/Swiss-Prot:Q03154

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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