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FADS6 Gene

protein-coding   GIFtS: 41
GCID: GC17M072873

Fatty Acid Desaturase 6

(Previous names: fatty acid desaturase domain family, member 6)
  Search for FADS6
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fatty Acid Desaturase 61 2
Fatty Acid Desaturase Domain Family, Member 61 2
EC 1.14.19.-3

External Ids:    HGNC: 304591   Entrez Gene: 2839852   Ensembl: ENSG000001727827   UniProtKB: Q8N9I53   

Export aliases for FADS6 gene to outside databases

Previous GC identifers: GC17M070386 GC17M068283


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FADS6 Gene:
FADS6 (fatty acid desaturase 6) is a protein-coding gene. GO annotations related to this gene include oxidoreductase activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FADS6 gene promoter:
         c-Fos   AhR   Egr-3   Bach1   AP-1   NRSF form 1   NRSF form 2   Gfi-1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFADS6 promoter sequence
   Search Chromatin IP Primers for FADS6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FADS6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

FADS6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FADS6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M072873:  view genomic region     (about GC identifiers)

Start:
72,873,428 bp from pter      End:
72,889,708 bp from pter
Size:
16,281 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FADS6_HUMAN, Q8N9I5 (See protein sequence)
Recommended Name: Fatty acid desaturase 6  
Size: 356 amino acids; 40447 Da
Sequence caution: Sequence=BAC04349.1; Type=Miscellaneous discrepancy; Note=The N-terminus contains a duplication
of the repeated 'MEPTEP' sequence. It is unclear whether such duplication is due to a sequencing error or a
polymorphism;
Secondary accessions: Q17RQ7 Q6XYE1
Alternative splicing: 2 isoforms:  Q8N9I5-1   Q8N9I5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FADS6: NX_Q8N9I5

Explore proteomics data for FADS6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FADS6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_835229.2  
    ENSEMBL proteins: 
     ENSP00000307821   ENSP00000464267  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FADS: Fatty acid desaturases

    1 InterPro protein domain:
     IPR005804 Fatty_acid_desaturase-1

    Graphical View of Domain Structure for InterPro Entry Q8N9I5

    ProtoNet protein and cluster: Q8N9I5

    UniProtKB/Swiss-Prot: FADS6_HUMAN, Q8N9I5
    Similarity: Belongs to the fatty acid desaturase family


    FADS6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Number (IUBMB): EC 1.14.19.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity IEA--
         
    FADS6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FADS6:
     Decreased number of cells in m 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidFADS6 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FADS6_HUMAN, Q8N9I5: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    peroxisome2
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    FADS6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FADS6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of unsaturated fatty acids
    oleate biosynthesis II (animals)0.32


    1 BioSystems Pathway for FADS6
        oleate biosynthesis II (animals)


    UniProtKB/Swiss-Prot: FADS6_HUMAN, Q8N9I5
    Pathway: Lipid metabolism; fatty acid metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FADS6
    Interactions:

        Search GeneGlobe Interaction Network for FADS6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for FADS6 (ENSP000003078214) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DHCR7ENSP000003477174STRING: ENSP00000347717
    PAAF1ENSP000003116654STRING: ENSP00000311665
    RCHY1ENSP000003212394STRING: ENSP00000321239
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006633fatty acid biosynthetic process IEA--

    FADS6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FADS6



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FADS6 gene: 
    NM_178128.4  

    Unigene Cluster for FADS6:

    Fatty acid desaturase 6
    Hs.448845  [show with all ESTs]
    Unigene Representative Sequence: AY203929
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310226(uc010wrn.1 uc002jmd.1) ENST00000413142 ENST00000579663

    miRNA
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    hsa-miR-4324 hsa-miR-15a hsa-miR-331-3p hsa-miR-431 hsa-miR-497 hsa-miR-199a-5p hsa-miR-424 hsa-miR-361-3p
    SwitchGear 3'UTR luciferase reporter plasmidFADS6 3' UTR sequence
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    Additional mRNA sequence: 

    AK094411.1 AK293720.1 AY203929.1 BC117230.1 

    3 DOTS entries:

    DT.99930267  DT.120974581  DT.91652998 

    4 AceView cDNA sequences:

    BG696484 AK094411 NM_178128 AY203929 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FADS6    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5
    SP1:                                    
    SP2:        -                           


    ECgene alternative splicing isoforms for FADS6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FADS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FADS6 Expression
    About this image

    FADS6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FADS6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.448845
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FADS6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fads61 , 5 fatty acid desaturase domain family, member 61, 5 82.35(n)1
    81.07(a)1
      11 (80.84 cM)5
    3280351  NM_178035.41  NP_828874.31 
     1152796225 
    chicken
    (Gallus gallus)
    Aves FADS61 fatty acid desaturase domain family, member 6 70.72(n)
    68.84(a)
      428683  XM_426241.4  XP_426241.2 
    lizard
    (Anolis carolinensis)
    Reptilia FADS66
    fatty acid desaturase 6
    70(a)
    1 ↔ 1
    2(115290395-115301699)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fads61 fatty acid desaturase 6 60.48(n)
    53.33(a)
      100494924  XM_002939561.2  XP_002939607.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005380241 fatty acid desaturase 6-like 62.18(n)
    55.99(a)
      100538024  XM_003199660.2  XP_003199708.1 


    ENSEMBL Gene Tree for FADS6 (if available)
    TreeFam Gene Tree for FADS6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FADS6 (see all 476)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1143175061,2
    F--72873082(+) TCTCAA/GTACTA 1 -- ds50011Minor allele frequency- G:0.06WA 118
    rs1136595591,2
    C--72873130(+) CCTTGG/ATCTCT 1 -- ds50012Minor allele frequency- A:0.12CSA WA 120
    rs1868129541,2
    --72873221(+) GCCCTC/GACTTC 1 -- ds50010--------
    rs1442836911,2
    --72873225(+) TGACTC/TCAGGC 1 -- ds50010--------
    rs1177094841,2
    C,F--72873279(+) CATCCG/ATCCTC 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1901410211,2
    --72873306(+) TACCCC/TCTCCA 1 -- ds50010--------
    rs1833190851,2
    C--72873319(+) CCCAGC/TCCCCT 1 -- ds50010--------
    rs1133934561,2
    C--72873431(+) TATTCT/-TTTTT 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs2019315331,2
    C--72873431(+) TATTC-/TTTTTTT 1 -- ds50010--------
    rs1512088441,2
    C--72873494(+) GTCTCA/GCTCTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FADS6 (72873428 - 72889708 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for FADS6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670185CNV Deletion23128226
    esv2677388CNV Deletion23128226
    esv2662692CNV Deletion23128226
    nsv518292CNV Loss19592680
    nsv833540CNV Loss17160897
    nsv908744CNV Loss21882294
    dgv3254n71CNV Loss21882294
    nsv908743CNV Loss21882294
    nsv457909CNV Gain19166990

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FADS6 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FADS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Sequence variation and genomic organization of fatty acid desaturase-2 (fad2) and fatty acid desaturase-6 (fad6) cDNAs in maize. (PubMed id 12677402)9 Mikkilineni V. and Rocheford T.R. (Theor. Appl. Genet. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 283985 HGNC: 30459 AceView: LOC283985 Ensembl:ENSG00000172782 euGenes: HUgn283985
    ECgene: FADS6 H-InvDB: FADS6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FADS6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FADS6 gene:
    Search GeneIP for patents involving FADS6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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