ALDH1A3: Aldehyde Dehydrogenase 1 Family Member A3
Key enzyme in retinoic acid synthesis and cancer metabolism
Gene Information Card
| Symbol | ALDH1A3 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 1 Family Member A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 220 ncbi.nlm.nih.gov/gene/220 |
| Ensembl ID | ENSG00000138311 |
| UniProt ID | P47895 |
| OMIM ID | 600463 |
| HGNC ID | 409 |
| Aliases | ALDH6, RALDH3, ALDH1A6 |
Description
ALDH1A3 encodes a member of the aldehyde dehydrogenase family that catalyzes the oxidation of retinaldehyde to retinoic acid, a critical signaling molecule in development and differentiation. The enzyme is involved in the metabolism of various aldehydes and plays a role in cancer stem cell maintenance, particularly in breast and lung cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microphthalmia, isolated, with coloboma 6 | Deficiency in retinoic acid synthesis leads to ocular developmental defects | OMIM #613703 |
| Breast cancer | Overexpression associated with cancer stem cell phenotype and poor prognosis | PMID: 21502567 |
| Lung adenocarcinoma | High ALDH1A3 expression correlates with metastasis and resistance to therapy | PMID: 29742022 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Breast | 8.3 | Low |
| Lung | 15.1 | Medium |
| Liver | 3.2 | Low |
| Eye (retina) | 45.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| A549 (lung cancer) | 22.1 | High expression |
| HepG2 (liver cancer) | 5.7 | Low expression |
| HEK293 (embryonic kidney) | 9.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133G>A (p.Gly45Arg) | Missense | Rare | Reduced enzyme activity; associated with microphthalmia |
| c.802C>T (p.Arg268Trp) | Missense | Rare | Loss of function; ocular coloboma |
| c.1045G>A (p.Gly349Ser) | Missense | Rare | Decreased retinoic acid synthesis |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly45Arg, p.Arg268Trp) reduce or abolish enzymatic activity, leading to retinoic acid deficiency and developmental eye defects.
Gain of Function (GOF)
Not well documented; overexpression in cancers is typically due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations reported for ALDH1A3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0001758 - retinal dehydrogenase activity |
| • GO:0008270 - zinc ion binding | • GO:0005829 - cytosol |
| • GO:0005737 - cytoplasm | • GO:0001525 - angiogenesis |
| • GO:0030154 - cell differentiation |
Pathways
• Retinol metabolism (KEGG: hsa00830)
• Metabolic pathways (KEGG: hsa01100)
• Retinoic acid signaling pathway
Protein Summary
ALDH1A3 is a 512-amino-acid cytosolic enzyme that functions as a homodimer. It catalyzes the irreversible oxidation of all-trans-retinal to all-trans-retinoic acid using NAD+ as cofactor. The protein contains a catalytic domain with a conserved cysteine residue essential for activity. It is highly expressed in the retina and certain cancers, where it contributes to stemness and chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH1A3 Knockout HEK293 Cell Line | EDJ-KQ4033 | Human | 220 | Details Get a Quote |
| ALDH1A3 Knockout HCT 116 Cell Line | EDJ-KQ25041 | Human | 220 | Details Get a Quote |
| ALDH1A3 Knockout A-549 Cell Line | EDJ-KQ26379 | Human | 220 | Details Get a Quote |
| ALDH1A3 Knockout HeLa Cell Line | EDJ-KQ26380 | Human | 220 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
