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    FADS1 fatty acid desaturase 1 [ Homo sapiens (human) ]

    Gene ID: 3992, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FADS1provided by HGNC
    Official Full Name
    fatty acid desaturase 1provided by HGNC
    Primary source
    HGNC:HGNC:3574
    See related
    Ensembl:ENSG00000149485 MIM:606148; AllianceGenome:HGNC:3574
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    D5D; TU12; FADS6; FADSD5; LLCDL1
    Summary
    The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in adrenal (RPKM 31.8), brain (RPKM 28.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FADS1 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61799627..61817003, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61788544..61805920, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61567099..61584475, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:61559319-61560296 and GRCh37_chr11:61560297-61561272 Neighboring gene transmembrane protein 258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61562818-61563318 Neighboring gene microRNA 611 Neighboring gene flap structure-specific endonuclease 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3399 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61582779-61583676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3401 Neighboring gene uncharacterized LOC124902680 Neighboring gene microRNA 1908 Neighboring gene fatty acid desaturase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61594111-61594788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61594789-61595466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61600847-61601714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61601715-61602582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61602583-61603450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61606205-61606762 Neighboring gene CRISPR perturbation-validated FADS1 cis-regulatory element TAD5.SE2.HS2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61615048-61615548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61615549-61616049 Neighboring gene uncharacterized LOC124902679

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Fatty acid desaturase 1 polymorphisms are associated with coronary heart disease in a Chinese population. Liu SJ, et al. Chin Med J (Engl), 2012 Mar. PMID 22490578
    2. FADS genetic and metabolomic analyses identify the ∆5 desaturase (FADS1) step as a critical control point in the formation of biologically important lipids. Reynolds LM, et al. Sci Rep, 2020 Sep 28. PMID 32985521, Free PMC Article
    3. No association between FADS polymorphisms and atopic diseases in children from the GINI and LISA birth cohorts. Singmann P, et al. Allergy, 2010 Dec. PMID 20716318
    4. Fatty acid desaturase 1 gene polymorphisms control human hepatic lipid composition. Wang L, et al. Hepatology, 2015 Jan. PMID 25123259, Free PMC Article
    5. FADS1 (Fatty Acid Desaturase 1) Genotype Associates With Aortic Valve FADS mRNA Expression, Fatty Acid Content and Calcification. Plunde O, et al. Circ Genom Precis Med, 2020 Jun. PMID 32397743, Free PMC Article

    See all (248) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.
      Title: High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.
    2. FADS1/2 control lipid metabolism and ferroptosis susceptibility in triple-negative breast cancer.
      Title: FADS1/2 control lipid metabolism and ferroptosis susceptibility in triple-negative breast cancer.
    3. Impact of FADS genotype on polyunsaturated fatty acid content in human milk extracellular vesicles: A genetic association study.
      Title: Impact of FADS genotype on polyunsaturated fatty acid content in human milk extracellular vesicles: A genetic association study.
    4. Brain tissue- and cell type-specific eQTL Mendelian randomization reveals efficacy of FADS1 and FADS2 on cognitive function.
      Title: Brain tissue- and cell type-specific eQTL Mendelian randomization reveals efficacy of FADS1 and FADS2 on cognitive function.
    5. Substitution analyses of foods with varying fat quality and the associations with all-cause mortality and impact of the FADS-1 genotype in elderly men.
      Title: Substitution analyses of foods with varying fat quality and the associations with all-cause mortality and impact of the FADS-1 genotype in elderly men.
    6. Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
      Title: Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
    7. FADS1-arachidonic acid axis enhances arachidonic acid metabolism by altering intestinal microecology in colorectal cancer.
      Title: FADS1-arachidonic acid axis enhances arachidonic acid metabolism by altering intestinal microecology in colorectal cancer.
    8. Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.
      Title: Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.
    9. Effect of FADS1 rs174556 Genotype on Polyunsaturated Fatty Acid Status: A Systematic Review and Meta-Analysis.
      Title: Effect of FADS1 rs174556 Genotype on Polyunsaturated Fatty Acid Status: A Systematic Review and Meta-Analysis.
    10. Association of Fatty Acid Desaturase 1 rs174547 Polymorphism with the Composition of Long-Chain Polyunsaturated Fatty Acids in Serum Glycerophospholipids during Pregnancy.
      Title: Association of Fatty Acid Desaturase 1 rs174547 Polymorphism with the Composition of Long-Chain Polyunsaturated Fatty Acids in Serum Glycerophospholipids during Pregnancy.
    Submit: New GeneRIF Correction See all GeneRIFs (167)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    A genome-wide assessment of variability in human serum metabolism.
    EBI GWAS Catalog
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    EBI GWAS Catalog
    A genome-wide perspective of genetic variation in human metabolism.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    EBI GWAS Catalog
    Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analysis identifies multiple loci related to resting heart rate.
    EBI GWAS Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    EBI GWAS Catalog
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    Genome-wide association study of serum albumin:globulin ratio in Korean populations.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38956, FLJ90273

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C-5 sterol desaturase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables acyl-CoA delta5-desaturase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables linoleoyl-CoA desaturase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables omega-6 fatty acid desaturase activity TAS
    Traceable Author Statement
    more info
    		  
    enables oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in alpha-linolenic acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in cell-cell signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in icosanoid biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in linoleic acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within long-chain fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phospholipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within unsaturated fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in unsaturated fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in unsaturated fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    acyl-CoA (8-3)-desaturase
    Names
    delta(5) desaturase
    delta-5 fatty acid desaturase
    linoleoyl-CoA desaturase (delta-6-desaturase)-like 1
    NP_037534.5
    XP_011543324.1
    XP_047282891.1
    XP_054224723.1
    XP_054224724.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_013402.7 → NP_037534.5  acyl-CoA (8-3)-desaturase

      Status: REVIEWED

      Source sequence(s)
      AI052027, AL512760, DA231492
      Consensus CDS
      CCDS8011.2
      UniProtKB/Swiss-Prot
      A8K0I7, B2RAI0, O60427, Q53GM5, Q8N3A6, Q8NCC7, Q8NCG0, Q96I39, Q96SV3, Q96T10, Q9NRP8, Q9NYX1
      UniProtKB/TrEMBL
      A0A0A0MR51
      Related
      ENSP00000322229.9, ENST00000350997.12
      Conserved Domains (3) summary
      PLN03199
      Location:74 → 496
      PLN03199; delta6-acyl-lipid desaturase-like protein; Provisional
      PRK07003
      Location:3 → 75
      PRK07003; DNA polymerase III subunit gamma/tau
      cd03506
      Location:218 → 469
      Delta6-FADS-like; The Delta6 Fatty Acid Desaturase (Delta6-FADS)-like CD includes the integral-membrane enzymes: delta-4, delta-5, delta-6, delta-8, delta-8-sphingolipid, and delta-11 desaturases found in vertebrates, higher plants, fungi, and bacteria. These desaturases ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      61799627..61817003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545022.3 → XP_011543324.1  acyl-CoA (8-3)-desaturase isoform X1

      UniProtKB/TrEMBL
      B7Z5F3
      Conserved Domains (1) summary
      cd03506
      Location:147 → 398
      Delta6-FADS-like; The Delta6 Fatty Acid Desaturase (Delta6-FADS)-like CD includes the integral-membrane enzymes: delta-4, delta-5, delta-6, delta-8, delta-8-sphingolipid, and delta-11 desaturases found in vertebrates, higher plants, fungi, and bacteria. These desaturases ...

    2. XM_047426935.1 → XP_047282891.1  acyl-CoA (8-3)-desaturase isoform X2

      Related
      ENSP00000441403.1, ENST00000542506.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61788544..61805920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368748.1 → XP_054224723.1  acyl-CoA (8-3)-desaturase isoform X1

    2. XM_054368749.1 → XP_054224724.1  acyl-CoA (8-3)-desaturase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60427.3 GenPept UniProtKB/Swiss-Prot:O60427

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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