ALDH1A1 Gene: Aldehyde Dehydrogenase 1 Family Member A1
Key enzyme in retinoic acid synthesis and alcohol metabolism, implicated in cancer stem cell biology and metabolic disorders.
Gene Information Card
| Symbol | ALDH1A1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 1 Family Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.13 |
| NCBI Gene ID | 216 ncbi.nlm.nih.gov/gene/216 |
| Ensembl ID | ENSG00000165092 |
| UniProt ID | P00352 |
| OMIM ID | 100640 |
| HGNC ID | 402 |
| Aliases | ALDH1, ALDH11, PUMB1, RALDH1, ALDC, ALDH-E1, ALDH1A1 |
Description
ALDH1A1 encodes a cytosolic aldehyde dehydrogenase enzyme that catalyzes the oxidation of aldehydes to carboxylic acids. It plays a critical role in retinoic acid biosynthesis by oxidizing retinaldehyde to retinoic acid, and in alcohol metabolism by oxidizing acetaldehyde to acetate. ALDH1A1 is widely used as a marker for cancer stem cells and is implicated in drug resistance, particularly in ovarian and breast cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol Sensitivity / Alcohol Flush Reaction | Deficient ALDH1A1 activity leads to accumulation of acetaldehyde after alcohol consumption, causing flushing and toxicity. | OMIM #100640; case-control studies |
| Cancer (breast, ovarian, lung) | ALDH1A1 overexpression is associated with cancer stem cell phenotype, chemoresistance, and poor prognosis. | COSMIC; multiple cohort studies |
| Sjögren-Larsson Syndrome (differential) | Although primarily linked to ALDH3A2, ALDH1A1 variants may modify phenotype. | OMIM #270200; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Kidney | 28.7 | High |
| Small Intestine | 22.1 | Medium |
| Lung | 12.3 | Medium |
| Breast | 8.5 | Low |
| Ovary | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 52.4 | High expression |
| MCF7 (breast) | 15.2 | Moderate expression |
| A549 (lung) | 9.8 | Low expression |
| SKOV3 (ovary) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1510G>A (p.Glu504Lys) | Missense | Common (allele frequency ~30% in East Asians) | Reduced enzyme activity; associated with alcohol flush reaction |
| c.815C>T (p.Thr272Met) | Missense | Rare | Decreased catalytic efficiency |
| c.1066G>A (p.Gly356Ser) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Glu504Lys reduces catalytic activity by >80%, leading to acetaldehyde accumulation.
Gain of Function (GOF)
Not reported for ALDH1A1.
Dominant Negative (DN)
Not reported for ALDH1A1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0001758 - retinal dehydrogenase activity |
| • GO:0006069 - ethanol oxidation | • GO:0001523 - retinoid metabolic process |
| • GO:0005737 - cytoplasm |
Pathways
• Retinol metabolism (KEGG hsa00830)
• Alcoholism (KEGG hsa05034)
• Metabolic pathways (KEGG hsa01100)
Protein Summary
ALDH1A1 is a 501-amino acid cytosolic enzyme that forms homotetramers. It uses NAD+ as cofactor to oxidize a broad range of aldehydes, including acetaldehyde and retinaldehyde. The enzyme is highly expressed in liver and kidney, and its activity is a hallmark of normal and cancer stem cells. The common Glu504Lys variant reduces activity and is linked to alcohol intolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH1A1 Knockout HEK293 Cell Line | EDJ-KQ2024 | Human | 216 | Details Get a Quote |
| ALDH1A1 Knockout A-549 Cell Line | EDJ-KQ22054 | Human | 216 | Details Get a Quote |
| ALDH1A1 Knockout HCT 116 Cell Line | EDJ-KQ22055 | Human | 216 | Details Get a Quote |
| ALDH1A1 Knockout HeLa Cell Line | EDJ-KQ52591 | Human | 216 | Details Get a Quote |
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