AADAC arylacetamide deacetylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: AADACprovided by HGNC
Official Full Name: arylacetamide deacetylaseprovided by HGNC
Primary source: HGNC:HGNC:17
See related: Ensembl:ENSG00000114771 MIM:600338
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

Genomic context

Location:: 3q25.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	3	NC_000003.12 (151814008..151828488)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (151531769..151546276)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
AADAC deletion is a candidate susceptibility factor for Gilles de la Tourette Syndrome
Title: Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.
Translational N-glycosylation of AADAC plays a crucial role in regulating AADAC enzyme activity.
Title: N-Glycosylation during translation is essential for human arylacetamide deacetylase enzyme activity.
Lipolysis of cellular TG and VLDL production were impaired in HCV infected cells during the early peak of viral infection. This was partially explained by an apparent deficiency of a putative TG lipase, arylacetamide deacetylase (AADAC).
Title: Arylacetamide deacetylase: a novel host factor with important roles in the lipolysis of cellular triacylglycerol stores, VLDL assembly and HCV production.
An AADAC*3 allele yields decreased enzyme activity in liver microsomes.
Title: A novel polymorphic allele of human arylacetamide deacetylase leads to decreased enzyme activity.
human AADAC was the enzyme responsible for the deacetylation of rifamycins and would affect the induction rate of drug-metabolizing enzymes by rifamycins and their induced hepatotoxicity.
Title: Human arylacetamide deacetylase is responsible for deacetylation of rifamycins: rifampicin, rifabutin, and rifapentine.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

NHGRI GWAS Catalog

Description
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

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 BioSystems

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Biological oxidations, organism-specific biosystem (from REACTOME)
Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...

General gene information

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Markers

RH124029 (e-PCR)
- UniSTS:136046

STS-L32179 (e-PCR)
- UniSTS:13170

RH36344 (e-PCR)
- UniSTS:24707

D3S4189 (e-PCR)
- UniSTS:18863

Homology

Homologs of the AADAC gene: The AADAC gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, S.pombe, M.oryzae, and frog.
Orthologs from Annotation Pipeline: 167 organisms have orthologs with human gene AADAC
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
catalytic activity	TAS Traceable Author Statement more info	PubMed
deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
deacetylase activity	TAS Traceable Author Statement more info
lipase activity	TAS Traceable Author Statement more info	PubMed
serine hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
serine hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
triglyceride lipase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
triglyceride lipase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
positive regulation of triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of triglyceride catabolic process	ISS Inferred from Sequence or Structural Similarity more info
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral component of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: arylacetamide deacetylase

Names: arylacetamide deacetylase (esterase)

NP_001077.2

EC 3.1.1.3

XP_005247161.1

EC 3.1.1.3

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)

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

P22760

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: Homo sapiens Annotation Release 109 details...

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p13 Primary Assembly

Range

151814008..151828488

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005247104.4 → 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