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ACY1 aminoacylase 1 [ Homo sapiens (human) ]

Gene ID: 95, updated on 2-Nov-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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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. Differential aminoacylase expression in neuroblastoma. Long PM, et al. Int J Cancer, 2011 Sep 15. PMID 21128244, Free PMC Article
  2. 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
  3. 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
  4. Sequence analysis of the aminoacylase-1 family. A new proposed signature for metalloexopeptidases. Biagini A, et al. Comp Biochem Physiol B Biochem Mol Biol, 2001 Mar. PMID 11250542
  5. Proteome analysis on an early transformed human bronchial epithelial cell line, BEP2D, after alpha-particle irradiation. Ying W, et al. Proteomics, 2003 Jan. PMID 12548635

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
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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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03154.1 GenPept UniProtKB/Swiss-Prot:Q03154

Gene LinkOut

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