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FADS1 Gene

protein-coding   GIFtS: 66
GCID: GC11M061567

Fatty Acid Desaturase 1


(Previous symbol: LLCDL1)
  See related diseases
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 11 2     FADS62
Delta-5 Desaturase1 2 3     TU122
LLCDL11 2     Delta-5 Fatty Acid Desaturase2
Delta(5) Desaturase2 3     Linoleoyl-CoA Desaturase (Delta-6-Desaturase)-Like 12
Delta(5) Fatty Acid Desaturase2 3     EC 1.14.19.-3
D5D2 3     EC 1.14.198
FADSD52 3     

External Ids:    HGNC: 35741   Entrez Gene: 39922   Ensembl: ENSG000001494857   OMIM: 6061485   UniProtKB: O604273   

Export aliases for FADS1 gene to outside databases

Previous GC identifers: GC11M064080 GC11M063143 GC11M061817 GC11M061342 GC11M061323 GC11M057895


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FADS1 Gene:
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)

GeneCards Summary for FADS1 Gene:
FADS1 (fatty acid desaturase 1) is a protein-coding gene. Diseases associated with FADS1 include best vitelliform macular dystrophy, and familial combined hyperlipidemia. GO annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is FADS2.

UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427
Function: Isoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By
similarity). Isoform 1 is a component of a lipid metabolic pathway that catalyzes biosynthesis of highly
unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA)
(18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid
(DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and
eicosapentaenoic acid (EPA)(20:5n-3), respectively

Gene Wiki entry for FADS1 Gene


(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_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FADS1 gene promoter:
         CBF-C   E47   HEN1   CBF-A   CBF-B   Ik-2   CP1A   ATF   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFADS1 promoter sequence
   Search Chromatin IP Primers for FADS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FADS1


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

Entrez Gene cytogenetic band: 11q12.2-q13.1   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12-q13.1

FADS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FADS1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061567:  view genomic region     (about GC identifiers)

Start:
61,567,097 bp from pter      End:
61,596,790 bp from pter
Size:
29,694 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: FADS1_HUMAN, O60427 (See protein sequence)
Recommended Name: Fatty acid desaturase 1  
Size: 444 amino acids; 51964 Da
Sequence caution: Sequence=BAC11182.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAC11229.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K0I7 B2RAI0 Q53GM5 Q8N3A6 Q8NCC7 Q8NCG0 Q96I39 Q96SV3 Q96T10 Q9NRP8
Q9NYX1
Alternative splicing: 2 isoforms:  O60427-1   O60427-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FADS1: NX_O60427

Explore proteomics data for FADS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys41, Lys83, Lys106, Lys398
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FADS1 (O60427) (see all 6)
     TQMNHIP  LWLDAYL  QAGWLQHD  FVIGHLKG 


    See FADS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_037534.3  
    ENSEMBL proteins: 
     ENSP00000322229   ENSP00000439097   ENSP00000405087   ENSP00000445253   ENSP00000441403  
     ENSP00000443587   ENSP00000407895   ENSP00000441871   ENSP00000442170   ENSP00000440652  
     ENSP00000416043   ENSP00000429016   ENSP00000443037   ENSP00000446270   ENSP00000439790  
     ENSP00000438997   ENSP00000391229   ENSP00000445442  
    Reactome Protein details: O60427

    FADS1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for FADS1
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    Novus Biologicals FADS1 Proteins
    Novus Biologicals FADS1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FADS1

    FADS1 Antibody Products:

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    Cloud-Clone Corp. Antibodies for FADS1
    ThermoFisher Antibodies for FADS1
    LSBio Antibodies in human, mouse, rat for FADS1

    FADS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for FADS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FADS1
    Cloud-Clone Corp. CLIAs for FADS1


    (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

    3 InterPro protein domains:
     IPR001199 Cyt_B5-like_heme/steroid-bd
     IPR005804 Fatty_acid_desaturase-1
     IPR012171 Fatty_acid/sphinglp_desaturase

    Graphical View of Domain Structure for InterPro Entry O60427

    ProtoNet protein and cluster: O60427

    1 Blocks protein domain: IPB001199 Cytochrome b5

    UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427
    Domain: The histidine box domains may contain the active site and/or be involved in metal ion binding
    Similarity: Belongs to the fatty acid desaturase family
    Similarity: Contains 1 cytochrome b5 heme-binding domain


    FADS1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FADS1_HUMAN, O60427
    Function: Isoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By
    similarity). Isoform 1 is a component of a lipid metabolic pathway that catalyzes biosynthesis of highly
    unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA)
    (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid
    (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and
    eicosapentaenoic acid (EPA)(20:5n-3), respectively
    Induction: Strongly down-regulated upon differentiation in a neuroblastoma cell line (at protein level)

         Enzyme Numbers (IUBMB): EC 1.14.19.-1 EC 1.14.192

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000248C-5 sterol desaturase activity TAS10601301
    GO:0005506iron ion binding IEA--
    GO:0016491oxidoreductase activity IDA10601301
    GO:0016717oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ----
    GO:0020037heme binding IEA--
         
    FADS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FADS1:
     Cell cycle / mitosis defect 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fads1):
     cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging 

    FADS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FADS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FADS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FADS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FADS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target FADS1:
    hsa-mir-1 (MIRT023902), hsa-mir-192-5p (MIRT026611), hsa-mir-215-5p (MIRT024788), hsa-mir-335-5p (MIRT018342), hsa-mir-155-5p (MIRT001549)

    Block miRNA regulation of human, mouse, rat FADS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FADS1 (see all 17):
    hsa-miR-140-5p hsa-miR-495 hsa-miR-128 hsa-miR-877* hsa-miR-7-1* hsa-miR-193a-5p hsa-miR-577 hsa-miR-324-3p
    SwitchGear 3'UTR luciferase reporter plasmidFADS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FADS1
    Predesigned siRNA for gene silencing in human, mouse, rat FADS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FADS1

    Clone
    Products:
         
    OriGene clones in human, mouse for FADS1 (see all 11)
    OriGene ORF clones in mouse, rat for FADS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FADS1 (NM_013402)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FADS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FADS1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for FADS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for FADS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FADS1


    (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
    FADS1_HUMAN, O60427: Isoform 1: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity).
    Mitochondrion
    FADS1_HUMAN, O60427: Isoform 2: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    mitochondrion2
    nucleus2
    peroxisome2
    cytosol1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane NAS10601301
    GO:0016021integral component of membrane NAS10601301

    FADS1 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 FADS1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    oleate biosynthesis II (animals)0.32
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    3alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic acid (ALA) metabolism0.00
    Linoleic acid (LA) metabolism0.00
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Fatty acid metabolism
    Fatty acid metabolism0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for FADS1
        oleate biosynthesis II (animals)
    eicosapentaenoate biosynthesis II (metazoa)

    3 Reactome Pathways for FADS1
        Linoleic acid (LA) metabolism
    PPARA activates gene expression
    alpha-linolenic acid (ALA) metabolism


    2 Kegg Pathways  (Kegg details for FADS1):
        Biosynthesis of unsaturated fatty acids
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427
    Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis


    FADS1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including FADS1: 

              Hepatotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FADS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FADS1 (O604271, 3 ENSP000003222294) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAAF1Q9BRP41, 3, ENSP000003116654EBI-1055473,EBI-1056358 I2D: score=2 STRING: ENSP00000311665
    DHCR7Q9UBM71, 3, ENSP000003477174EBI-1055473,EBI-1054468 I2D: score=2 STRING: ENSP00000347717
    SMAD4Q134853I2D: score=1 
    PPARAENSP000002627354STRING: ENSP00000262735
    RXRAENSP000004196924STRING: ENSP00000419692
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated NAS10601301
    GO:0006629lipid metabolic process ----
    GO:0006633fatty acid biosynthetic process ----
    GO:0006636unsaturated fatty acid biosynthetic process IEA--
    GO:0006950response to stress ----

    FADS1 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 FADS1

    2 HMDB Compounds for FADS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Eicosapentaenoic acid(5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoate (see all 22)10417-94-4--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    2 DrugBank Compounds for FADS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-Linolenic Acid(9Z,12Z,15Z)-Octadecatrienoic acid (see all 5)463-40-1targetligand8673626 10765977 16988497 11518758 8487621
    IcosapentEicosapentaenoic acid (see all 4)10417-94-4targetagonist10685788 11026622 9917342 9610840 10917903

    Selected Novoseek inferred chemical compound relationships for FADS1 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihomo-gamma-linolenic acid 84.7 5 9192987 (1), 11742889 (1), 17466497 (1), 16201244 (1)
    fatty acid 80 33 20045144 (2), 10727010 (1), 15748617 (1), 16846730 (1) (see all 21)
    linoleic acid 77.5 15 17655842 (2), 18842780 (2), 17551762 (1), 10991775 (1) (see all 10)
    arachidonic acid 73.1 20 9566835 (2), 18842780 (2), 12538079 (1), 15015135 (1) (see all 13)
    gamma-linolenic acid 70 2 17466497 (1)
    docosahexaenoic acid 68.4 4 10991775 (1), 14988642 (1), 17466497 (1)
    eicosapentaenoic acid 58.9 5 14988642 (1), 17466497 (1), 18842780 (1)
    lipid 45.6 4 16846730 (1), 17136489 (1), 15189125 (1), 18936223 (1)
    cholesterol 45 2 12030318 (1), 12706457 (1)
    simvastatin 36.8 3 12706457 (1), 17655842 (1)



    FADS1 for compounds           About GeneDecksing



    (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 FADS1 gene: 
    NM_013402.4  

    Unigene Cluster for FADS1:

    Fatty acid desaturase 1
    Hs.503546  [show with all ESTs]
    Unigene Representative Sequence: NM_013402
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000350997(uc001nsh.3 uc010rlm.2) ENST00000536991 ENST00000433932
    ENST00000460649 ENST00000542506(uc010rln.1) ENST00000496123 ENST00000539999
    ENST00000424501 ENST00000540767 ENST00000545245 ENST00000545405 ENST00000421879
    ENST00000491310 ENST00000544696 ENST00000466716 ENST00000544309 ENST00000539419
    ENST00000448607
    miRNA
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    Block miRNA regulation of human, mouse, rat FADS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FADS1 (see all 17):
    hsa-miR-140-5p hsa-miR-495 hsa-miR-128 hsa-miR-877* hsa-miR-7-1* hsa-miR-193a-5p hsa-miR-577 hsa-miR-324-3p
    SwitchGear 3'UTR luciferase reporter plasmidFADS1 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for FADS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FADS1 (NM_013402)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FADS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FADS1
    Primer
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    OriGene qPCR primer pairs and template standards for FADS1
    OriGene qSTAR qPCR primer pairs in human, mouse for FADS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FADS1
      QuantiTect SYBR Green Assays in human, mouse, rat FADS1
      QuantiFast Probe-based Assays in human, mouse, rat FADS1

    Additional mRNA sequence: 

    AF035284.1 AF084558.1 AF199596.1 AF226273.1 AF271778.1 AK027427.1 AK027522.1 AK074754.1 
    AK074819.1 AK096275.1 AK222906.1 AK289552.1 AK298871.1 AK314199.1 AL512760.1 AL834479.1 
    BC007846.2 

    Selected DOTS entries (see all 30):

    DT.91817665  DT.449027  DT.92012441  DT.100832147  DT.100030170  DT.99934273  DT.100663661  DT.100663654 
    DT.100030171  DT.95265965  DT.212451  DT.91809922  DT.95265967  DT.91976567  DT.100016911  DT.100863409 
    DT.120740062  DT.120740158  DT.75154374  DT.95227593  DT.95285623  DT.100860557  DT.100871596  DT.120739920 

    Selected AceView cDNA sequences (see all 25):

    AL834479 BC007846 AL512760 AK074819 CR611884 NM_013402 CR597486 CR591980 
    CR602403 AK096275 AF226273 AF199596 AK027522 AU132018 AF084558 AK027427 
    BX388117 AK074754 AF009756 AF271778 BF835985 BF838230 BF742188 BF083018 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FADS1 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^
    SP1:              -     -     -     -     -     -                             -                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                          -                                                                                 
    SP4:                                                                          -                                                                                 
    SP5:                                                                                                                                            -     -     -   

    ExUns: 20a · 20b · 20c · 20d ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33
    SP1:                                                                                                                              
    SP2:                                                                                                                              
    SP3:                                                                                                                              
    SP4:                                                                                                                              
    SP5:  -     -     -     -     -     -     -                                                                                       


    ECgene alternative splicing isoforms for FADS1

    (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)
    About This Section

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    FADS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGGGCGTGG
    FADS1 Expression
    About this image


    FADS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Mature follicles
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    FADS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FADS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503546

    UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427
    Tissue specificity: Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly
    expressed in fetal liver and brain

        Pathway & Disease-focused RT2 Profiler PCR Array including FADS1: 
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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 animals.

    Orthologs for FADS1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fads11 , 5 fatty acid desaturase 11, 5 85.96(n)1
    88.96(a)1
      19 (6.54 cM)5
    762671  NM_146094.21  NP_666206.11 
     101828885 
    chicken
    (Gallus gallus)
    Aves FADS11 fatty acid desaturase 1 72.11(n)
    72.98(a)
      423120  XM_421052.4  XP_421052.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 5)
    Uncharacterized protein
    (see all 5)
    73(a)
    63(a)
    (see all 5)
    1 ↔ many
    1 ↔ many
    (see all 5)
    GL343235.1(2024884-2061882)
    GL343235.1(1849741-1868414)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fads11 fatty acid desaturase 1 71.76(n)
    73.18(a)
      100489232  XM_002942966.2  XP_002943012.2 
    worm
    (Caenorhabditis elegans)
    Secernentea fat-43 cytochrome B5 containing fusion protein 27(a)
    (best of 2)
      IV(9799648-9802249)   --


    ENSEMBL Gene Tree for FADS1 (if available)
    TreeFam Gene Tree for FADS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FADS1 gene
    FADS22  FADS32  
    7 SIMAP similar genes for FADS1 using alignment to 26 protein entries:     FADS1_HUMAN (see all proteins):
    FADS2    DKFZp666K083    FADS3    FADS2P1    DKFZp686M0619    CYB5B
    CYB5A

    FADS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FADS1
    PGOHUM00000242734


    (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 FADS1 (see all 305)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1482335891,2
    --61566652(+) CTTGAA/GGCCGG 1 -- ds50010--------
    rs1412561831,2
    --61566678(+) GTGAAC/TTAAGA 1 -- ds50010--------
    rs1845828951,2
    --61566688(+) ATGGCA/CGCACC 1 -- ds50010--------
    rs1745421,2
    H--61566953(+) GGGTCC/GTGATG 1 -- ds50016Minor allele frequency- G:0.00NS EA NA 404
    rs145361,2
    C--61567134(+) TTCATA/GGGGAT 1 -- ut313Minor allele frequency- G:0.00MN NA 188
    rs1889528221,2
    C--61567140(+) GGGATA/GTGATA 1 -- ut310--------
    rs1508616211,2
    --61567158(+) TGGCAC/TACACA 1 -- ut310--------
    rs1181714181,2
    C,F--61567352(+) GATTTG/AAGATC 1 -- ut311Minor allele frequency- A:0.03EA 120
    rs2007112641,2
    --61567669(+) GTTGT-/GTTTTT 1 -- ut310--------
    rs1932507311,2
    C--61567670(+) GTTGTG/TTTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FADS1 (61567097 - 61596790 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FADS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv343CNV Insertion18451855
    nsv528697CNV Loss19592680
    nsv897613CNV Loss21882294
    nsv897614CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606148    OMIM disorders: --

    Selected diseases for FADS1 (see all 28):    
    About MalaCards
    best vitelliform macular dystrophy    familial combined hyperlipidemia    vitelliform macular dystrophy    metabolic syndrome x
    macular dystrophy    paranoid schizophrenia    age related macular degeneration    major depressive disorder
    attention deficit hyperactivity disorder    insulin resistance    coronary heart disease    coronary artery disease
    obesity    crohn's disease    cystic fibrosis    type 1 diabetes
    atherosclerosis    neuroblastoma    diabetes mellitus    inflammatory bowel disease

    1 disease from the University of Copenhagen DISEASES database for FADS1:
    Diabetes mellitus

    FADS1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for FADS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulin resistance 40.2 6 15850715 (3), 16896932 (1), 9833942 (1), 8675650 (1)
    obesity 15 2 8675650 (1), 15850715 (1)

    Genetic Association Database (GAD): FADS1
    Human Genome Epidemiology (HuGE) Navigator: FADS1 (46 documents)

    Export disorders for FADS1 gene to outside databases

    (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 FADS1 gene, integrated from 10 sources (see all 187):
    (articles sorted by number of sources associating them with FADS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of FADS1 and FADS2 polymorphisms in polyunsaturated fatty acid metabolism. (PubMed id 20045144)1, 4, 9 Glaser C....Koletzko B. (Metab. Clin. Exp. 2010)
    2. cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PubMed id 10860662)1, 2, 9 Marquardt A.... Weber B.H. (Genomics 2000)
    3. Genetically determined variation in polyunsaturated fatty acid metabolism may result in different dietary requirements. (PubMed id 18626191)1, 4, 9 Koletzko B....Heinrich J. (Nestle Nutr Workshop Ser Pediatr Program 2008)
    4. Genetic variants of the FADS1 FADS2 gene cluster as related to essential fatty acid metabolism. (PubMed id 19809313)1, 4, 9 Lattka E....Heinrich J. (Curr. Opin. Lipidol. 2010)
    5. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. (PubMed id 19148276)1, 4, 9 Tanaka T....Ferrucci L. (PLoS Genet. 2009)
    6. Genetic variants of the FADS1 FADS2 gene cluster are associated with altered (n-6) and (n-3) essential fatty acids in plasma and erythrocyte phospholipids in women during pregnancy and in breast milk during lactation. (PubMed id 18936223)1, 4, 9 Xie L. and Innis S.M. (J. Nutr. 2008)
    7. FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease. (PubMed id 18842780)1, 4, 9 Martinelli N....Olivieri O. (Am. J. Clin. Nutr. 2008)
    8. SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease. (PubMed id 18320251)1, 4, 9 Malerba G....Illig T. (Lipids 2008)
    9. Association of fatty acid desaturase genes with attention-deficit/hyperactivity disorder. (PubMed id 16893529)1, 4, 9 Brookes K.J....Asherson P. (Biol. Psychiatry 2006)
    10. cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid. (PubMed id 10769175)1, 2, 9 Leonard A.E.... Mukerji P. (Biochem. J. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3992 HGNC: 3574 AceView: FADS1 Ensembl:ENSG00000149485 euGenes: HUgn3992
    ECgene: FADS1 Kegg: 3992 H-InvDB: FADS1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for FADS1 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 FADS1 gene:
    Search GeneIP for patents involving FADS1

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



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