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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FADS1
fatty acid desaturase 1
Chromosome 11 · 11q12.2
NCBI Gene: 3992Ensembl: ENSG00000149485.19HGNC: HGNC:3574UniProt: A0A0A0MR51
252PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
oxidoreductase activitycellular response to starvationacyl-CoA (8-3)-desaturase activityacyl-CoA 6-desaturase activityneurodegenerative diseaseHypercholesterolemiacolonic neoplasmasthma
✦AI Summary

FADS1 (fatty acid desaturase 1) is a membrane-associated oxidoreductase that catalyzes the conversion of linoleic acid to arachidonic acid (AA), serving as a rate-limiting enzyme in polyunsaturated fatty acid (PUFA) biosynthesis 1. The enzyme exhibits acyl-CoA desaturase activity and functions primarily in the endoplasmic reticulum and mitochondrial membranes to regulate unsaturated fatty acid metabolism and lipid homeostasis 2. Mechanistically, FADS1 upregulation drives AA synthesis, which subsequently metabolizes to pro-inflammatory prostaglandin E2 (PGE2) via downstream signaling cascades 13. In the tumor microenvironment, FADS1 expression in cancer-associated cells promotes immunosuppression by enhancing PGE2 signaling in tumor-associated neutrophils, preventing anti-tumor interferon responses 3. Clinically, FADS1 dysregulation is implicated in cancer progression and ferroptosis sensitivity. FADS1-high triple-negative breast cancer exhibits enhanced susceptibility to ferroptosis-inducing agents through PUFA accumulation, while genetic or pharmacological FADS1 inhibition confers resistance 4. Similarly, in gastric cancer, silencing of FADS1 through DNA methylation reduces ferroptosis sensitivity, whereas restoration of AA synthesis restores ferroptosis vulnerability 5. Common FADS1 polymorphisms (rs174549, rs174546, rs174537) significantly alter PUFA and AA levels in serum lipids and modify cardiovascular and metabolic disease risk across ethnic populations 62, suggesting potential for precision nutrition strategies.

Sources cited
1
FADS1/2 control PUFA biosynthesis and ferroptosis susceptibility in TNBC; high expression correlates with poor prognosis and ferroptosis sensitivity
PMID: 38926633
2
Tumor-initiating stem cells upregulate FADS1 to produce arachidonic acid, enhancing PGE2 signaling in neutrophils to prevent anti-tumor immunity
PMID: 41349542
3
FADS1 is a rate-limiting delta-5 desaturase upregulated in colorectal cancer that mediates AA synthesis and PGE2 production via microbiome modulation
PMID: 37041160
4
FADS1 upregulation in mesenchymal gastric cancer cells enhances ferroptosis sensitivity, while DNA methylation silencing in intestinal-type cells confers resistance
PMID: 33288688
5
FADS1 SNPs (rs174546, rs174537) significantly associate with altered arachidonic acid and other PUFA levels in adolescent serum lipids
PMID: 34189740
6
FADS variants modify PUFA desaturation activity and lipid composition; genotype distribution varies among ethnicities reflecting evolutionary advantage for PUFA synthesis
PMID: 31433740
7
FADS1 expression is regulated post-transcriptionally and involved in synthetic lethality when combined with arachidonic acid in TNBC
PMID: 40344056
8
FADS1 rs174549 polymorphism showed no significant association with periodontitis in the study population
PMID: 39070486
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
HypercholesterolemiaOpen Targets
0.47Moderate
colonic neoplasmOpen Targets
0.38Weak
asthmaOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.34Weak
hypothyroidismOpen Targets
0.32Weak
anal neoplasmOpen Targets
0.31Weak
rectal neoplasmOpen Targets
0.31Weak
ThrombocytopeniaOpen Targets
0.31Weak
multiple sclerosisOpen Targets
0.30Weak
Parkinson diseaseOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.30Weak
skin agingOpen Targets
0.27Weak
bipolar disorderOpen Targets
0.27Weak
metabolic diseaseOpen Targets
0.26Weak
hyperlipidemiaOpen Targets
0.26Weak
dermatitisOpen Targets
0.25Weak
Eczematoid dermatitisOpen Targets
0.25Weak
Nasal Cavity PolypOpen Targets
0.25Weak
rheumatoid arthritisOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HACD2Protein interaction100%HSD17B12Protein interaction100%EBPProtein interaction100%HACD3Protein interaction98%HACD4Protein interaction98%HACD1Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Liver
34%
Heart
31%
Ovary
28%
Lung
24%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
FADS1HACD2HSD17B12EBPHACD3HACD4HACD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60427
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.19–0.43]
RankingsWhere FADS1 stands among ~20K protein-coding genes
  • #1,521of 20,598
    Most Researched252 · top 10%
  • #2,288of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedFADS1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
FADS1/2 control lipid metabolism and ferroptosis susceptibility in triple-negative breast cancer.
PMID: 38926633
EMBO Mol Med · 2024
1.00
2
Tumor-initiating stem cells fine-tune the plasticity of neutrophils to sculpt a protective niche.
PMID: 41349542
Cancer Cell · 2026
0.90
3
FADS1-arachidonic acid axis enhances arachidonic acid metabolism by altering intestinal microecology in colorectal cancer.
PMID: 37041160
Nat Commun · 2023
0.80
4
FADS1 and FADS2 Gene Polymorphisms Modulate the Relationship of Omega-3 and Omega-6 Fatty Acid Plasma Concentrations in Gestational Weight Gain: A NISAMI Cohort Study.
PMID: 35268031
Nutrients · 2022
0.76
5
Polyunsaturated fatty acid biosynthesis pathway determines ferroptosis sensitivity in gastric cancer.
PMID: 33288688
Proc Natl Acad Sci U S A · 2020
0.70