ALDH3B1
Aldehyde Dehydrogenase 3 Family Member B1
Gene Information Card
| Symbol | ALDH3B1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 3 Family Member B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 221 ncbi.nlm.nih.gov/gene/221 |
| Ensembl ID | ENSG00000106524 |
| UniProt ID | P43353 |
| OMIM ID | 600466 |
| HGNC ID | 408 |
| Aliases | ALDH3B1, ALDH3B, ALDH3B2 |
Description
ALDH3B1 encodes a member of the aldehyde dehydrogenase family that catalyzes the oxidation of medium- and long-chain aldehydes to carboxylic acids. The enzyme plays a role in detoxification of lipid peroxidation-derived aldehydes and may protect cells from oxidative stress. It is expressed in multiple tissues including liver, kidney, and lung.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered ALDH3B1 expression may affect aldehyde detoxification in liver cells, contributing to oxidative stress and tumorigenesis. | PMID: 23455423 |
| Lung adenocarcinoma | Downregulation of ALDH3B1 associated with poor prognosis; potential tumor suppressor role. | PMID: 28723891 |
| Colorectal cancer | Reduced ALDH3B1 expression linked to increased oxidative damage and disease progression. | PMID: 25910241 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung adenocarcinoma cell line |
| HEK293 | 5.3 | Embryonic kidney cell line |
| MCF7 | 3.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown functional effect |
| c.1120C>T (p.Arg374Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0004030 - aldehyde dehydrogenase [NAD(P)+] activity |
| • GO:0005737 - cytoplasm | • GO:0005829 - cytosol |
| • GO:0006068 - ethanol catabolic process | • GO:0006081 - cellular aldehyde metabolic process |
| • GO:0045454 - cell redox homeostasis |
Pathways
• Metabolism of xenobiotics by cytochrome P450 (Reactome: R-HSA-211981)
• Ethanol oxidation (Reactome: R-HSA-71311)
• Fatty acid metabolism (Reactome: R-HSA-8978868)
Protein Summary
ALDH3B1 is a 468-amino acid protein (52 kDa) belonging to the aldehyde dehydrogenase superfamily. It forms homodimers and uses NAD+ as cofactor to oxidize medium- and long-chain aldehydes, including those derived from lipid peroxidation. The enzyme is localized in the cytoplasm and cytosol, and its expression is regulated in response to oxidative stress. Structural studies indicate a conserved catalytic domain with a Rossmann fold for NAD+ binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH3B1 Knockout HEK293 Cell Line | EDJ-KQ4039 | Human | 221 | Details Get a Quote |
| ALDH3B1 Knockout A-549 Cell Line | EDJ-KQ26387 | Human | 221 | Details Get a Quote |
| ALDH3B1 Knockout HCT 116 Cell Line | EDJ-KQ26388 | Human | 221 | Details Get a Quote |
| ALDH3B1 Knockout HeLa Cell Line | EDJ-KQ26389 | Human | 221 | Details Get a Quote |
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