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    ACY1 aminoacylase 1 [ Homo sapiens (human) ]

    Gene ID: 95, updated on 9-Dec-2024

    Summary

    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
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    Genomic context

    See ACY1 in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51983535..51989197)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52016455..52022117)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_000666.3NP_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:1401
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
    2. NM_001198895.2NP_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:1401
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
    3. NM_001198896.2NP_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:1329
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
      cl14876
      Location:9327
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    4. NM_001198897.2NP_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:1336
      PRK13004; peptidase; Reviewed
    5. NM_001198898.2NP_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:9364
      M20_AcylaseI_like; M20 Aminoacylase-I like subfamily
      TIGR01880
      Location:1366
      Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)