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    FADS3 fatty acid desaturase 3 [ Homo sapiens (human) ]

    Gene ID: 3995, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FADS3provided by HGNC
    Official Full Name
    fatty acid desaturase 3provided by HGNC
    Primary source
    HGNC:HGNC:3576
    See related
    Ensembl:ENSG00000221968 MIM:606150; AllianceGenome:HGNC:3576
    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
    CYB5RP; LLCDL3
    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 fat (RPKM 37.4), placenta (RPKM 28.8) and 22 other tissues See more
    Orthologs
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    Genomic context

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    See FADS3 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61873526..61892224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61862340..61881028, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61640998..61659017, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902680 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 fatty acid desaturase 2 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 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61624465-61624966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61628720-61629220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61629221-61629721 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:61642149-61642697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61646639-61647348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61655245-61655746 Neighboring gene microRNA 6746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61657348-61658037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61658038-61658726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61666908-61667879 Neighboring gene RAB3A interacting protein like 1 Neighboring gene Sharpr-MPRA regulatory region 8487 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61705992-61706140 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:61709325-61709979 Neighboring gene RNA, U6 small nuclear 1243, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61711149-61711650 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61713521-61713684 Neighboring gene uncharacterized LOC107984334 Neighboring gene bestrophin 1

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Overexpression of fatty acid desaturase 3 predicts poor prognosis in head and neck squamous cell carcinoma.
      Title: Overexpression of fatty acid desaturase 3 predicts poor prognosis in head and neck squamous cell carcinoma.
    3. FADS3 is a Delta14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome.
      Title: FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome.
    4. Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.
      Title: Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.
    5. Data demonstrated that the rs1000778-G allele in the FADS3 gene is related to increased risk for coronary artery disease in the northern Chinese Han population.
      Title: Association of the FADS gene cluster with coronary artery disease and plasma lipid concentrations in the northern Chinese Han population.
    6. pairwise comparison showed that individuals major homozygous for the SNP rs1000778 in the FADS3 gene had lower concentrations of a-linolenic acid and linoleic acid in their breast milk
      Title: Association of polyunsaturated fatty acids in breast milk with fatty acid desaturase gene polymorphisms among Chinese lactating mothers.
    7. Minor allele homozygotes and heterozygotes of rs174455 in FADS3 gene had lower levels of 22:5 omega-3, 20:4 omega-6, and Delta5desaturase activity in patients with type 2 diabetes mellitus.
      Title: Genetic variants in desaturase gene, erythrocyte fatty acids, and risk for type 2 diabetes in Chinese Hans.
    8. Data suggest that FADS3 alternative transcripts/splicing are up-regulated in liver by dietary docosahexaenoic/arachidonic acids by peroxisome proliferator-activated receptor gamma (PPARg)-dependent mechanism unrelated to other desaturases (FADS1/2).
      Title: Dietary long-chain polyunsaturated fatty acids upregulate expression of FADS3 transcripts.
    9. genetic association study in maternal/child dyads in England: Data suggest that SNPs in FADS3 (and in FADS1/FADS2) influence fetal fatty acid metabolism; both maternal and child FADS genotypes/haplotypes influence cord plasma long-chain fatty acids.
      Title: Umbilical cord PUFA are determined by maternal and child fatty acid desaturase (FADS) genetic variants in the Avon Longitudinal Study of Parents and Children (ALSPAC).
    10. it is highly likely that a gene product of FADS3 has desaturating activity.
      Title: Genetic variation in polyunsaturated fatty acid metabolism and its potential relevance for human development and health.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    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 determinants of circulating sphingolipid concentrations in European populations.
    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
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    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
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of fatty acid desaturase 3 (FADS3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in unsaturated fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in unsaturated fatty acid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    fatty acid desaturase 3
    Names
    cytochrome b5-related protein
    delta(13) desaturase
    delta(13) fatty acid desaturase
    delta-9 fatty acid desaturase
    delta-9-desaturase
    linoleoyl-CoA desaturase (delta-9-desaturase)-like 3
    NP_068373.1
    XP_011543325.1
    XP_016873212.1
    XP_016873213.1
    XP_047282892.1
    XP_054224725.1
    XP_054224726.1
    XP_054224727.1
    XP_054224728.1

    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_021727.5 → NP_068373.1  fatty acid desaturase 3

      See identical proteins and their annotated locations for NP_068373.1

      Status: REVIEWED

      Source sequence(s)
      AP006260
      Consensus CDS
      CCDS8013.1
      UniProtKB/Swiss-Prot
      O60426, Q9Y5Q0
      UniProtKB/TrEMBL
      E9PS00
      Related
      ENSP00000278829.2, ENST00000278829.7
      Conserved Domains (2) summary
      cd03506
      Location:165 → 413
      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 ...
      cl27737
      Location:22 → 433
      CYB5; Cytochrome b involved in lipid metabolism [Energy production and conversion, Lipid transport and metabolism]

    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
      61873526..61892224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017724.1 → XP_016873213.1  fatty acid desaturase 3 isoform X2

    2. XM_017017723.1 → XP_016873212.1  fatty acid desaturase 3 isoform X1

    3. XM_011545023.2 → XP_011543325.1  fatty acid desaturase 3 isoform X3

      See identical proteins and their annotated locations for XP_011543325.1

      UniProtKB/TrEMBL
      E9PS00
      Conserved Domains (2) summary
      PLN03199
      Location:10 → 449
      PLN03199; delta6-acyl-lipid desaturase-like protein; Provisional
      cd03506
      Location:165 → 422
      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 ...

    4. XM_047426936.1 → XP_047282892.1  fatty acid desaturase 3 isoform X4

      UniProtKB/TrEMBL
      E9PKP8
      Related
      ENSP00000431533.1, ENST00000527697.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61862340..61881028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368751.1 → XP_054224726.1  fatty acid desaturase 3 isoform X2

    2. XM_054368750.1 → XP_054224725.1  fatty acid desaturase 3 isoform X1

    3. XM_054368752.1 → XP_054224727.1  fatty acid desaturase 3 isoform X3

    4. XM_054368753.1 → XP_054224728.1  fatty acid desaturase 3 isoform X4

      UniProtKB/TrEMBL
      E9PKP8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5Q0.1 GenPept UniProtKB/Swiss-Prot:Q9Y5Q0

    Gene LinkOut

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

    Chemical Information
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