FADS1 Gene: Fatty Acid Desaturase 1
Key enzyme in polyunsaturated fatty acid biosynthesis and metabolic disease association
Gene Information Card
| Symbol | FADS1 |
|---|---|
| Full Name | Fatty Acid Desaturase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 3992 ncbi.nlm.nih.gov/gene/3992 |
| Ensembl ID | ENSG00000149485 |
| UniProt ID | O60427 |
| OMIM ID | 606148 |
| HGNC ID | 3575 |
| Aliases | D5D, FADS6, delta-5 desaturase, LLCDL1 |
Description
FADS1 encodes a member of the fatty acid desaturase (FADS) gene family. The encoded protein, delta-5 desaturase, catalyzes the desaturation of dihomo-gamma-linolenic acid (20:3n-6) to arachidonic acid (20:4n-6) and eicosatetraenoic acid (20:4n-3) to eicosapentaenoic acid (20:5n-3). This enzyme is critical for the biosynthesis of long-chain polyunsaturated fatty acids (LC-PUFAs), which are essential for membrane fluidity, cell signaling, and inflammation regulation. Genetic variants in FADS1 are associated with altered fatty acid profiles, metabolic syndrome, cardiovascular disease, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Altered FADS1 activity leads to imbalanced n-6/n-3 PUFA ratios, promoting insulin resistance and dyslipidemia | GWAS (PMID: 21829377, 22286211) |
| Cardiovascular disease | Reduced delta-5 desaturase activity decreases arachidonic acid levels, affecting eicosanoid synthesis and vascular inflammation | ClinVar, GWAS (PMID: 22286211) |
| Inflammatory bowel disease | FADS1 variants modulate PUFA-derived inflammatory mediators, influencing Crohn's disease risk | GWAS (PMID: 21102463) |
| Atopic dermatitis | Altered LC-PUFA biosynthesis affects skin barrier function and immune response | Association studies (PMID: 24139923) |
| Type 2 diabetes | FADS1 SNPs (e.g., rs174547) linked to fasting glucose and insulin resistance | GWAS (PMID: 21829377) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Adipose tissue | 28.1 | Medium |
| Brain | 15.3 | Medium |
| Kidney | 12.7 | Medium |
| Heart | 8.9 | Low |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 42.5 | Hepatocellular carcinoma cell line |
| THP-1 | 18.3 | Monocytic leukemia cell line |
| SH-SY5Y | 12.1 | Neuroblastoma cell line |
| MCF7 | 9.8 | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs174547 (c.>T) | Intronic variant | 0.33 (global) | Associated with altered FADS1 expression and PUFA levels |
| rs174550 (c.>C) | Intronic variant | 0.28 (global) | Linked to metabolic syndrome and cardiovascular risk |
| p.Arg95Trp | Missense | Rare | Reduced enzyme activity in vitro (PMID: 25920557) |
| p.Thr256Ala | Missense | Rare | Altered substrate specificity (PMID: 25920557) |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg95Trp) reduce delta-5 desaturase activity, impairing LC-PUFA synthesis.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006636 - fatty acid desaturation | • GO:0016717 - oxidoreductase activity |
| • acting on paired donors | • with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water |
| • GO:0004768 - stearoyl-CoA 9-desaturase activity | • GO:0006629 - lipid metabolic process |
| • GO:0016021 - integral component of membrane | • GO:0005789 - endoplasmic reticulum membrane |
Pathways
• WP:WP357 - Polyunsaturated fatty acid biosynthesis
• KEGG:hsa01040 - Biosynthesis of unsaturated fatty acids
• Reactome:R-HSA-2046104 - alpha-linolenic acid (ALA) metabolism
• Reactome:R-HSA-2142753 - arachidonic acid metabolism
Protein Summary
FADS1 (delta-5 desaturase) is a 444-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains a cytochrome b5-like heme-binding domain and three histidine-rich motifs essential for catalytic activity. The enzyme introduces a double bond at the delta-5 position of 20-carbon polyunsaturated fatty acids, converting dihomo-gamma-linolenic acid (DGLA) to arachidonic acid (AA) and eicosatetraenoic acid (ETA) to eicosapentaenoic acid (EPA). This step is rate-limiting in the synthesis of long-chain PUFAs. The protein is highly expressed in liver and adipose tissue, and its activity is regulated by dietary fatty acids, hormones, and genetic polymorphisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FADS1 Knockout HEK293 Cell Line | EDJ-KQ5126 | Human | 3992 | Details Get a Quote |
| FADS1 Knockout A-549 Cell Line | EDJ-KQ28080 | Human | 3992 | Details Get a Quote |
| FADS1 Knockout HCT 116 Cell Line | EDJ-KQ28081 | Human | 3992 | Details Get a Quote |
| FADS1 Knockout HeLa Cell Line | EDJ-KQ28082 | Human | 3992 | Details Get a Quote |
| FADS1 Knockout HAP1 Cell Line | EDC08351 | Human | 3992 | Details Get a Quote |
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