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
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Genomic context

Location:: 3q25.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	3	NC_000003.12 (151814008..151828488)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (151531904..151546276)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Associated conditions

Description	Tests
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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: 202 organisms have orthologs with human gene AADAC
Orthologs

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 hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
enables serine hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables triglyceride lipase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables triglyceride lipase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in positive regulation of triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in 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 Updated Annotation Release 109.20210514

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