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    AADAC arylacetamide deacetylase [ Homo sapiens (human) ]

    Gene ID: 13, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AADACprovided by HGNC
    Official Full Name
    arylacetamide deacetylaseprovided by HGNC
    Primary source
    HGNC:HGNC:17
    See related
    Ensembl:ENSG00000114771 MIM:600338; AllianceGenome:HGNC:17
    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
    DAC; CES5A1
    Summary
    Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in liver (RPKM 174.6), small intestine (RPKM 100.2) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AADAC in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (151814116..151828488)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (154563474..154596308)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (151531904..151546276)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene arylacetamide deacetylase like 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:151467502-151468701 Neighboring gene AADACL2 antisense RNA 1 Neighboring gene arylacetamide deacetylase pseudogene 1 Neighboring gene succinate receptor 1 Neighboring gene uncharacterized LOC105374159 Neighboring gene MPRA-validated peak4862 silencer

    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. Human arylacetamide deacetylase is responsible for deacetylation of rifamycins: rifampicin, rifabutin, and rifapentine. Nakajima A, et al. Biochem Pharmacol, 2011 Dec 1. PMID 21856291
    2. Purification and characterization of a human liver arylacetamide deacetylase. Probst MR, et al. Biochem Biophys Res Commun, 1991 May 31. PMID 2043131
    3. Human liver arylacetamide deacetylase. Molecular cloning of a novel esterase involved in the metabolic activation of arylamine carcinogens with high sequence similarity to hormone-sensitive lipase. Probst MR, et al. J Biol Chem, 1994 Aug 26. PMID 8063807
    4. Radiation hybrid mapping of human arylacetamide deacetylase (AADAC) locus to chromosome 3. Yamazaki K, et al. Genomics, 1997 Sep 1. PMID 9299245
    5. A novel polymorphic allele of human arylacetamide deacetylase leads to decreased enzyme activity. Shimizu M, et al. Drug Metab Dispos, 2012 Jun. PMID 22415931

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In vitro deacetylation of N-acetylserotonin by arylacetamide deacetylase.
      Title: In vitro deacetylation of N-acetylserotonin by arylacetamide deacetylase.
    2. AADAC promotes therapeutic activity of cisplatin and imatinib against ovarian cancer cells.
      Title: AADAC promotes therapeutic activity of cisplatin and imatinib against ovarian cancer cells.
    3. Impact of AADAC gene expression on prognosis in patients with Borrmann type III advanced gastric cancer.
      Title: Impact of AADAC gene expression on prognosis in patients with Borrmann type III advanced gastric cancer.
    4. Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.
      Title: Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.
    5. Arylacetamide deacetylase as a determinant of the hydrolysis and activation of abiraterone acetate in mice and humans.
      Title: Arylacetamide deacetylase as a determinant of the hydrolysis and activation of abiraterone acetate in mice and humans.
    6. Study investigated the presence and activity of the AADAC enzyme in several human lungs. Results highlight high interindividual variability in both AADAC gene and protein expression as well as in phenacetin hydrolysis activity. These findings add more information to knowledge of pulmonary enzymes and could be particularly useful in the design and preclinical development of inhaled drugs.
      Title: Arylacetamide Deacetylase Enzyme: Presence and Interindividual Variability in Human Lungs.
    7. AADAC rs1803155 single nucleotide polymorphism is associated with lower rifapentine clearance, leading to increased rifapentine exposure.
      Title: A Population Pharmacokinetic Analysis Shows that Arylacetamide Deacetylase (AADAC) Gene Polymorphism and HIV Infection Affect the Exposure of Rifapentine.
    8. that the AADAC gene c.361+1G>A variant may be a potential candidate factor for Tourette syndrome development
      Title: Association of the AADAC gene and Tourette syndrome in a Han Chinese cohort.
    9. Data suggest that metabolism (and possibly pharmacokinetics) of hypnotic nitrazepam involves liver enzymes AOX1 (aldehyde oxidase 1), NAT2 (N-acetyltransferase 2), AADAC (arylacetamide deacetylase), and CYP3A4 (cytochrome P450 3A4).
      Title: Identification of enzymes responsible for nitrazepam metabolism and toxicity in human.
    10. Data suggest that AADAC in hepatocyte microsomes hydrolyzes ketoconazole, a synthetic imidazole antifungal agent, to N-deacetyl ketoconazole and thus triggers hepatocellular toxicity.
      Title: Human arylacetamide deacetylase hydrolyzes ketoconazole to trigger hepatocellular toxicity.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    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)

    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 catalytic activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables deacetylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables deacetylase activity TAS
    Traceable Author Statement
    more info
    		  
    enables lipase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables triacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables triacylglycerol lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of triglyceride catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of triglyceride catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    arylacetamide deacetylase
    Names
    arylacetamide deacetylase (esterase)
    NP_001077.2
    XP_005247161.1
    XP_054201155.1
    XP_054201156.1
    XP_054201157.1

    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.

    mRNA and Protein(s)

    1. NM_001086.3 → NP_001077.2  arylacetamide deacetylase

      See identical proteins and their annotated locations for NP_001077.2

      Status: REVIEWED

      Source sequence(s)
      BC032309, L32179
      Consensus CDS
      CCDS33877.1
      UniProtKB/Swiss-Prot
      A8K3L3, D3DNJ6, P22760, Q8N1A9
      Related
      ENSP00000232892.6, ENST00000232892.12
      Conserved Domains (2) summary
      COG0657
      Location:33 → 399
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam07859
      Location:107 → 377
      Abhydrolase_3; alpha/beta hydrolase fold

    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
      151814116..151828488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247104.5 → XP_005247161.1  arylacetamide deacetylase isoform X1

      Conserved Domains (2) summary
      COG0657
      Location:51 → 382
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam07859
      Location:90 → 360
      Abhydrolase_3; alpha/beta hydrolase fold

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      154563474..154596308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345181.1 → XP_054201156.1  arylacetamide deacetylase isoform X2

    2. XM_054345180.1 → XP_054201155.1  arylacetamide deacetylase isoform X2

    3. XM_054345182.1 → XP_054201157.1  arylacetamide deacetylase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22760.5 GenPept UniProtKB/Swiss-Prot:P22760

    Gene LinkOut

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

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