ADH1A: Alcohol Dehydrogenase 1A (Class I), Alpha Polypeptide
Key enzyme in ethanol metabolism and retinol oxidation
Gene Information Card
| Symbol | ADH1A |
|---|---|
| Full Name | Alcohol Dehydrogenase 1A (Class I), Alpha Polypeptide |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 124 ncbi.nlm.nih.gov/gene/124 |
| Ensembl ID | ENSG00000187758 |
| UniProt ID | P07327 |
| OMIM ID | 103700 |
| HGNC ID | 249 |
| Aliases | ADH1, ADH1A, ADH1A1, ADH1A2, ADH1A3 |
Description
ADH1A encodes the alpha subunit of class I alcohol dehydrogenase (ADH), a homodimeric enzyme that catalyzes the reversible oxidation of ethanol to acetaldehyde using NAD+ as cofactor. It also oxidizes retinol (vitamin A) to retinal, contributing to retinoid metabolism. ADH1A is predominantly expressed in the liver and is involved in the first step of alcohol metabolism. Genetic variants influence alcohol clearance and susceptibility to alcohol-related diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol Dependence | Variants in ADH1A alter ethanol oxidation rate, affecting acetaldehyde accumulation and drinking behavior | ClinVar, OMIM |
| Alcohol-Induced Liver Disease | Reduced ADH1A activity may lead to increased hepatic acetaldehyde toxicity | NCBI Gene, OMIM |
| Retinol Deficiency | Impaired retinol oxidation due to ADH1A dysfunction can disrupt vitamin A metabolism | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 68.2 | High |
| Kidney | 12.5 | Medium |
| Small Intestine | 8.1 | Medium |
| Stomach | 5.3 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.0 | Hepatocellular carcinoma cell line |
| HEK293 | 3.2 | Embryonic kidney cells |
| Caco-2 | 6.8 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1229984 (Arg48His) | Missense | 0.5% in Europeans, 70% in East Asians | Reduced enzyme activity; slower ethanol oxidation |
| rs2066702 (Arg272Cys) | Missense | 2% in Africans | Decreased catalytic efficiency |
| rs1696995 (Val58Ile) | Missense | Rare | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
rs1229984 (Arg48His) reduces ADH1A activity, leading to slower ethanol clearance and higher acetaldehyde levels.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ADH1A.
Dominant Negative (DN)
No dominant-negative mutations described for ADH1A.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004022 - alcohol dehydrogenase (NAD+) activity | • GO:0004745 - retinol dehydrogenase activity |
| • GO:0006067 - ethanol metabolic process | • GO:0001523 - retinoid metabolic process |
| • GO:0005737 - cytoplasm | • GO:0005829 - cytosol |
Pathways
• Ethanol oxidation (Reactome: R-HSA-71311)
• Retinol metabolism (KEGG: hsa00830)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
Protein Summary
ADH1A encodes a 375-amino-acid protein (alpha subunit) that forms homodimers. Each subunit contains a zinc-binding catalytic domain and a coenzyme-binding domain. The enzyme uses NAD+ to oxidize ethanol to acetaldehyde and retinol to retinal. It is highly expressed in the liver and contributes to the first-pass metabolism of alcohol. Structural variants can alter enzyme kinetics and influence alcohol-related phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADH1A Knockout HEK293 Cell Line | EDJ-KQ3734 | Human | 124 | Details Get a Quote |
| ADH1A Knockout HeLa Cell Line | EDJ-KQ52556 | Human | 124 | Details Get a Quote |
| ADH1A Knockout A-549 Cell Line | EDJ-KQ61037 | Human | 124 | Details Get a Quote |
| ADH1A Knockout HCT 116 Cell Line | EDJ-KQ69514 | Human | 124 | Details Get a Quote |
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