ALOX5
Arachidonate 5-Lipoxygenase: Key Enzyme in Leukotriene Biosynthesis and Inflammatory Signaling
Gene Information Card
| Symbol | ALOX5 |
|---|---|
| Full Name | Arachidonate 5-lipoxygenase |
| Gene Type | Protein-coding |
| Chromosomal Location | 10q11.21 |
| NCBI Gene ID | 240 ncbi.nlm.nih.gov/gene/240 |
| Ensembl ID | ENSG00000012779 |
| UniProt ID | P09917 |
| OMIM ID | 152390 |
| HGNC ID | 435 |
| Aliases | 5-LOX, 5LPG, LOG5 |
Description
ALOX5 encodes arachidonate 5-lipoxygenase, a key enzyme in the biosynthesis of leukotrienes from arachidonic acid. Leukotrienes are potent inflammatory mediators involved in asthma, allergic rhinitis, atherosclerosis, and certain cancers. The enzyme is primarily expressed in leukocytes and requires the 5-lipoxygenase-activating protein (FLAP) for full activity. Genetic variants in ALOX5 have been associated with altered inflammatory responses and disease susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | Increased leukotriene production due to ALOX5 promoter variants enhances airway inflammation and bronchoconstriction. | ClinVar, OMIM |
| Atherosclerosis | ALOX5 expression in macrophages promotes leukotriene synthesis, contributing to vascular inflammation and plaque formation. | NCBI Gene, PubMed |
| Myeloid leukemia | Overexpression of ALOX5 in leukemic stem cells supports survival and proliferation; inhibition reduces disease progression. | COSMIC, PubMed |
| Allergic rhinitis | ALOX5-mediated leukotriene release drives nasal congestion and eosinophilic inflammation. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Whole blood | 10.8 | Medium |
| Spleen | 8.2 | Medium |
| Lung | 3.1 | Low |
| Small intestine | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyeloblast) | 15.2 | High expression; used in differentiation studies |
| THP-1 (monocyte) | 11.4 | High expression; inducible by LPS |
| K-562 (erythroleukemia) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs892690 (promoter variant) | SNP | 5-10% (Caucasian) | Reduced promoter activity; associated with decreased asthma risk |
| rs2228064 (p.Gln261Arg) | Missense | <1% | Altered enzyme activity; potential impact on leukotriene synthesis |
| rs2228065 (p.Val431Ile) | Missense | <1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Promoter variants (e.g., rs892690) reduce ALOX5 transcription and leukotriene production, potentially protective in asthma.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ALOX5.
Dominant Negative (DN)
No dominant-negative mutations described for ALOX5.
View complete mutation data：
Gene Ontology (GO)
| • arachidonate 5-lipoxygenase activity | • iron ion binding |
| • oxidoreductase activity | • leukotriene biosynthetic process |
| • inflammatory response | • cellular response to lipopolysaccharide |
Pathways
• Arachidonic acid metabolism (KEGG hsa00590)
• Leukotriene biosynthesis (Reactome R-HSA-2142691)
• Eicosanoid signaling (Reactome R-HSA-9018678)
Protein Summary
Arachidonate 5-lipoxygenase (5-LOX) is a 78 kDa enzyme containing an N-terminal C2-like domain and a catalytic domain with a non-heme iron center. It catalyzes the conversion of arachidonic acid to 5-hydroperoxyeicosatetraenoic acid (5-HPETE) and subsequently to leukotriene A4 (LTA4). The enzyme is primarily cytosolic but translocates to the nuclear membrane upon activation, where it interacts with FLAP. 5-LOX is a target for anti-inflammatory drugs such as zileuton, used in asthma treatment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALOX5 Knockout HEK293 Cell Line | EDC07829 | Human | 240 | Details Get a Quote |
| ALOX5AP Knockout HEK293 Cell Line | EDC07759 | Human | 241 | Details Get a Quote |
| ALOX5 Knockout HCT 116 Cell Line | EDJ-KQ25868 | Human | 240 | Details Get a Quote |
| ALOX5AP Knockout A-549 Cell Line | EDJ-KQ26399 | Human | 241 | Details Get a Quote |
| ALOX5AP Knockout HeLa Cell Line | EDJ-KQ26400 | Human | 241 | Details Get a Quote |
| ALOX5 Knockout HeLa Cell Line | EDJ-KQ52597 | Human | 240 | Details Get a Quote |
| ALOX5 Knockout A-549 Cell Line | EDJ-KQ61074 | Human | 240 | Details Get a Quote |
| ALOX5AP Knockout HCT 116 Cell Line | EDJ-KQ69557 | Human | 241 | Details Get a Quote |
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