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

    Gene ID: 3995, updated on 8-Apr-2018
    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; Vega:OTTHUMG00000167500
    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
    Location:
    11q12.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (61873523..61892224, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61640998..61659006, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fatty acid desaturase 1 Neighboring gene microRNA 1908 Neighboring gene fatty acid desaturase 2 Neighboring gene microRNA 6746 Neighboring gene RAB3A interacting protein like 1 Neighboring gene RNA, U6 small nuclear 1243, pseudogene Neighboring gene uncharacterized LOC107984334 Neighboring gene bestrophin 1

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genetic determinants of circulating sphingolipid concentrations in European populations.
    NHGRI GWA Catalog
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    NHGRI GWA Catalog
    Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    NHGRI GWA 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
    NHGRI GWA Catalog
    Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
    NHGRI GWA Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    unsaturated fatty acid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    fatty acid desaturase 3
    Names
    cytochrome b5-related protein
    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

    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_021727.4NP_068373.1  fatty acid desaturase 3

      See identical proteins and their annotated locations for NP_068373.1

      Status: REVIEWED

      Source sequence(s)
      AW080967, BC004901, DA662142
      Consensus CDS
      CCDS8013.1
      UniProtKB/Swiss-Prot
      Q9Y5Q0
      UniProtKB/TrEMBL
      A0A024R564
      Related
      ENSP00000278829.2, OTTHUMP00000236056, ENST00000278829.6, OTTHUMT00000394836
      Conserved Domains (2) summary
      cd03506
      Location:165413
      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:22433
      CYB5; Cytochrome b involved in lipid metabolism [Energy production and conversion, Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      61873523..61892224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

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

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

      See identical proteins and their annotated locations for XP_011543325.1

      Conserved Domains (3) summary
      PLN03199
      Location:10449
      PLN03199; delta6-acyl-lipid desaturase-like protein; Provisional
      cd03506
      Location:165422
      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 ...
      pfam00173
      Location:2296
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    RNA

    1. XR_001747866.1 RNA Sequence

    2. XR_001747868.1 RNA Sequence

    3. XR_001747867.1 RNA Sequence

    4. XR_001747869.1 RNA Sequence

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