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    APEH acylaminoacyl-peptide hydrolase [ Homo sapiens (human) ]

    Gene ID: 327, updated on 10-Dec-2024

    Summary

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    Official Symbol
    APEHprovided by HGNC
    Official Full Name
    acylaminoacyl-peptide hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:586
    See related
    Ensembl:ENSG00000164062 MIM:102645; AllianceGenome:HGNC:586
    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
    APH; OPH; AARE; ACPH; D3S48E; D3F15S2; DNF15S2
    Summary
    This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 28.3), thyroid (RPKM 22.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See APEH in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49673117..49683971)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49702408..49713255)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49711784..49721404)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14366 Neighboring gene dystroglycan 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49572171-49573169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49574689-49575189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14369 Neighboring gene BSN divergent transcript Neighboring gene bassoon presynaptic cytomatrix protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49675623-49676124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49676125-49676624 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49682435-49682618 Neighboring gene Sharpr-MPRA regulatory region 2684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49723317-49724030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49724031-49724744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49726261-49726820 Neighboring gene Sharpr-MPRA regulatory region 3541 Neighboring gene ring finger protein 123 Neighboring gene macrophage stimulating 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49754537-49755037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49756083-49756890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19873 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49758476-49758653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19874 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene GDP-mannose pyrophosphorylase B

    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. Description of an acylpeptide hydrolase from lens. Sharma KK, et al. Exp Eye Res, 1992 Jun. PMID 1521574
    2. Selective inhibition of acylpeptide hydrolase in SAOS-2 osteosarcoma cells: is this enzyme a viable anticancer target? Gogliettino M, et al. Mol Biol Rep, 2021 Feb. PMID 33471263
    3. Influence of acylpeptide hydrolase polymorphisms on valproic acid level in Chinese epilepsy patients. Wen ZP, et al. Pharmacogenomics, 2016 Jul. PMID 27406852
    4. Specific enhancement of acylase I and acylpeptide hydrolase activities by the corresponding N-acetylated substrates in primary rat hepatocyte cultures. Perrier J, et al. Biol Cell, 2002 Feb. PMID 12000146
    5. Functional proteomics using microchannel plate detectors. Richards P, et al. Proteomics, 2002 Mar. PMID 11921441

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deubiquitinase UCHL1 Maintains Protein Homeostasis through the PSMA7-APEH-Proteasome Axis in High-grade Serous Ovarian Carcinoma.
      Title: Deubiquitinase UCHL1 Maintains Protein Homeostasis through the PSMA7-APEH-Proteasome Axis in High-grade Serous Ovarian Carcinoma.
    2. Selective inhibition of acylpeptide hydrolase in SAOS-2 osteosarcoma cells: is this enzyme a viable anticancer target?
      Title: Selective inhibition of acylpeptide hydrolase in SAOS-2 osteosarcoma cells: is this enzyme a viable anticancer target?
    3. APEH knockdown abrogated RAS-RAF-MAPK signaling in cells expressing the constitutively active (oncogenic) mutant of KRAS (KRASG12V), and selectively inhibited the proliferation of KRAS-transformed pancreatic cancer cells. Taken together, these results identify APEH as a novel drug target for a potential anti-KRAS therapeutic.
      Title: Acylpeptide hydrolase is a novel regulator of KRAS plasma membrane localization and function.
    4. Although APEH is primarily localized in the cytoplasm, a sub-fraction of this enzyme is sequestered at sites of nuclear damage following UVA irradiation or following oxidative stress. APEH interacts with the amino-terminal domain of XRCC1, and APEH facilitates both single-strand break repair and cell survival following exposure to H2O2. Thus, APEH as a novel proteolytic component of the DNA damage response.
      Title: Acylpeptide hydrolase is a component of the cellular response to DNA damage.
    5. APEH polymorphism has significant influence on valproic acid pharmacokinetics in Chinese population
      Title: Influence of acylpeptide hydrolase polymorphisms on valproic acid level in Chinese epilepsy patients.
    6. Studies indicate that the cylindromatosis/turban tumor syndrome gene (CYLD) ranked highest, followed by acylaminoacyl-peptidase (APEH), dystroglycan (DAG1), macrophage-stimulating protein (MST1) and ubiquitin-specific peptidase 4 (USP4).
      Title: Genetic evidence supporting the association of protease and protease inhibitor genes with inflammatory bowel disease: a systematic review.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • MGC2178

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables omega peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in amyloid-beta metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translational termination TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    acylamino-acid-releasing enzyme
    Names
    N-acylaminoacyl-peptide hydrolase
    acyl-peptide hydrolase
    acylaminoacyl-peptidase
    oxidized protein hydrolase
    NP_001631.3
    XP_005265154.1
    XP_011531960.1
    XP_016861774.1
    XP_047304021.1
    XP_047304022.1
    XP_054202382.1
    XP_054202383.1
    XP_054202384.1
    XP_054202385.1

    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_011438.1 RefSeqGene

      Range
      5350..14970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001640.4 → NP_001631.3  acylamino-acid-releasing enzyme

      See identical proteins and their annotated locations for NP_001631.3

      Status: REVIEWED

      Source sequence(s)
      AC099668
      Consensus CDS
      CCDS2801.1
      UniProtKB/Swiss-Prot
      P13798, Q9BQ33, Q9P0Y2
      UniProtKB/TrEMBL
      C9JIF9
      Related
      ENSP00000296456.5, ENST00000296456.10
      Conserved Domains (1) summary
      COG1506
      Location:157 → 732
      DAP2; Dipeptidyl aminopeptidase/acylaminoacyl peptidase [Amino acid transport and metabolism]

    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
      49673117..49683971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448065.1 → XP_047304021.1  acylamino-acid-releasing enzyme isoform X2

      UniProtKB/TrEMBL
      C9JIF9

    2. XM_011533658.4 → XP_011531960.1  acylamino-acid-releasing enzyme isoform X1

      UniProtKB/TrEMBL
      C9JIF9
      Conserved Domains (3) summary
      pfam05934
      Location:10 → 127
      MCLC; Mid-1-related chloride channel (MCLC)
      pfam12146
      Location:538 → 754
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:555 → 777
      Abhydrolase; alpha/beta hydrolases

    3. XM_017006285.2 → XP_016861774.1  acylamino-acid-releasing enzyme isoform X3

      UniProtKB/TrEMBL
      C9JIF9

    4. XM_005265097.3 → XP_005265154.1  acylamino-acid-releasing enzyme isoform X4

      UniProtKB/TrEMBL
      C9JIF9
      Conserved Domains (2) summary
      pfam12146
      Location:447 → 663
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:464 → 686
      Abhydrolase; alpha/beta hydrolases

    5. XM_047448066.1 → XP_047304022.1  acylamino-acid-releasing enzyme isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49702408..49713255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346407.1 → XP_054202382.1  acylamino-acid-releasing enzyme isoform X1

      UniProtKB/TrEMBL
      C9JIF9

    2. XM_054346409.1 → XP_054202384.1  acylamino-acid-releasing enzyme isoform X3

      UniProtKB/TrEMBL
      C9JIF9

    3. XM_054346408.1 → XP_054202383.1  acylamino-acid-releasing enzyme isoform X2

      UniProtKB/TrEMBL
      C9JIF9

    4. XM_054346410.1 → XP_054202385.1  acylamino-acid-releasing enzyme isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13798.4 GenPept UniProtKB/Swiss-Prot:P13798

    Gene LinkOut

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

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