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ACY1 aminoacylase 1 [ Homo sapiens (human) ]

Gene ID: 95, updated on 7-Dec-2018

Summary

Official Symbol
ACY1provided by HGNC
Official Full Name
aminoacylase 1provided by HGNC
Primary source
HGNC:HGNC:177
See related
Ensembl:ENSG00000243989 MIM:104620
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

Genomic context

See ACY1 in Genome Data Viewer
Location:
3p21.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (51983284..51989202)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52017300..52023218)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 14B Neighboring gene ABHD14A-ACY1 readthrough Neighboring gene abhydrolase domain containing 14A Neighboring gene ribosomal protein L29 Neighboring gene uncharacterized LOC105377088

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminoacylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aminoacylase activity TAS
Traceable Author Statement
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular amino acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
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)

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
    4738..10656
    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
    Q03154
    UniProtKB/TrEMBL
    V9HWA0
    Related
    ENSP00000490149.1, ENST00000636358.1
    Conserved Domains (1) summary
    TIGR01880
    Location:1401
    Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
  2. NM_001198895.1NP_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
    Q03154
    UniProtKB/TrEMBL
    V9HWA0
    Related
    ENSP00000384296.2, ENST00000404366.7
    Conserved Domains (1) summary
    TIGR01880
    Location:1401
    Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
  3. NM_001198896.1NP_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)
    BE269642, CD014023, L07548
    Consensus CDS
    CCDS56261.1
    UniProtKB/Swiss-Prot
    Q03154
    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_001198897.1NP_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)
    BE269642, CD014026, L07548
    Consensus CDS
    CCDS56262.1
    UniProtKB/Swiss-Prot
    Q03154
    Related
    ENSP00000419262.1, ENST00000476854.5
    Conserved Domains (1) summary
    cl27543
    Location:1336
    PRK13004; peptidase; Reviewed
  5. NM_001198898.1NP_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)
    BE269642, CD014027, L07548
    Consensus CDS
    CCDS56263.1
    UniProtKB/Swiss-Prot
    Q03154
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    51983284..51989202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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