AADAC: Arylacetamide Deacetylase – Function, Genetics, and Clinical Relevance
Comprehensive biomedical overview of the AADAC gene, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | AADAC |
|---|---|
| Full Name | Arylacetamide Deacetylase |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.1 |
| NCBI Gene ID | 13 ncbi.nlm.nih.gov/gene/13 |
| Ensembl ID | ENSG00000114771 |
| UniProt ID | P22760 |
| OMIM ID | 600338 |
| HGNC ID | HGNC:17 |
| Aliases | DAC, MGC138235, MGC138237 |
Description
The AADAC gene encodes arylacetamide deacetylase, a microsomal carboxylesterase involved in the hydrolysis of arylacetamide substrates, including drugs and xenobiotics. It plays a role in lipid metabolism and drug detoxification. Polymorphisms in AADAC have been associated with altered drug response and susceptibility to certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered AADAC expression may affect metabolism of carcinogens | PMID: 23455423 |
| Drug-induced liver injury | Variants in AADAC influence metabolism of acetaminophen and other drugs | PMID: 25684568 |
| Colorectal cancer | Reduced AADAC expression linked to tumor progression | PMID: 27562872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Kidney | 12.8 | Medium |
| Small intestine | 8.5 | Medium |
| Lung | 3.1 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 62.3 | Hepatocellular carcinoma cell line |
| HEK293 | 5.4 | Embryonic kidney cells |
| Caco-2 | 9.8 | Colorectal adenocarcinoma cells |
| A549 | 2.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.5% in East Asian populations | Reduced enzyme activity |
| c.457G>A (p.Gly153Ser) | Missense | 0.2% in European populations | Altered substrate specificity |
| c.788A>G (p.Asn263Ser) | Missense | 0.1% global | No significant functional change |
Mutation functional classification
Loss of Function (LOF)
c.101C>T (p.Thr34Met) reduces catalytic activity by >50% in vitro.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Drug metabolism – cytochrome P450 (Reactome: R-HSA-211981)
• Phase I functionalization of compounds (Reactome: R-HSA-211945)
Protein Summary
Arylacetamide deacetylase is a 399-amino-acid microsomal enzyme predominantly expressed in the liver. It catalyzes the hydrolysis of arylacetamides, such as the prodrug phenacetin, and participates in the metabolism of various xenobiotics. The protein contains a conserved serine hydrolase motif and is anchored to the endoplasmic reticulum membrane. Structural studies reveal a typical α/β hydrolase fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AADAC Knockout HEK293 Cell Line | EDJ-KQ3986 | Human | 13 | Details Get a Quote |
| AADACL3 Knockout HEK293 Cell Line | EDJ-KQ8202 | Human | 126767 | Details Get a Quote |
| AADACL2 Knockout HEK293 Cell Line | EDJ-KQ12240 | Human | 344752 | Details Get a Quote |
| AADACL4 Knockout HEK293 Cell Line | EDJ-KQ12241 | Human | 343066 | Details Get a Quote |
| AADAC Knockout A-549 Cell Line | EDJ-KQ26300 | Human | 13 | Details Get a Quote |
| AADAC Knockout HCT 116 Cell Line | EDJ-KQ26301 | Human | 13 | Details Get a Quote |
| AADAC Knockout HeLa Cell Line | EDJ-KQ52530 | Human | 13 | Details Get a Quote |
| AADACL3 Knockout HeLa Cell Line | EDJ-KQ58187 | Human | 126767 | Details Get a Quote |
| AADACL4 Knockout HeLa Cell Line | EDJ-KQ59743 | Human | 343066 | Details Get a Quote |
| AADACL2 Knockout HeLa Cell Line | EDJ-KQ59775 | Human | 344752 | Details Get a Quote |
| AADACL3 Knockout A-549 Cell Line | EDJ-KQ66677 | Human | 126767 | Details Get a Quote |
| AADACL4 Knockout A-549 Cell Line | EDJ-KQ68212 | Human | 343066 | Details Get a Quote |
| AADACL2 Knockout A-549 Cell Line | EDJ-KQ68244 | Human | 344752 | Details Get a Quote |
| AADACL3 Knockout HCT 116 Cell Line | EDJ-KQ75091 | Human | 126767 | Details Get a Quote |
| AADACL4 Knockout HCT 116 Cell Line | EDJ-KQ76588 | Human | 343066 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
