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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
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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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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
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

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