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    FADS6 fatty acid desaturase 6 [ Homo sapiens (human) ]

    Gene ID: 283985, updated on 7-Apr-2024

    Summary

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    Official Symbol
    FADS6provided by HGNC
    Official Full Name
    fatty acid desaturase 6provided by HGNC
    Primary source
    HGNC:HGNC:30459
    See related
    Ensembl:ENSG00000172782 MIM:620577; AllianceGenome:HGNC:30459
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FP18279
    Summary
    Predicted to enable 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. Predicted to be involved in lipid metabolic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in small intestine (RPKM 1.8), duodenum (RPKM 1.4) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FADS6 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74874787..74893633, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75766585..75785433, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72873431..72889731, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8943 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8944 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72850908-72851103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72856835-72857533 Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ferredoxin reductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72870273-72871173 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4853 Neighboring gene Sharpr-MPRA regulatory region 12632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875167-72875668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875669-72876168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72878575-72879105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12722 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72920304-72920487 Neighboring gene USH1 protein network component sans Neighboring gene Sharpr-MPRA regulatory region 12431 Neighboring gene otopetrin 2

    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
    • 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. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    fatty acid desaturase 6
    Names
    fatty acid desaturase domain family, member 6
    NP_835229.3
    XP_005257281.2
    XP_016879947.1
    XP_047291715.1
    XP_054171704.1
    XP_054171705.1
    XP_054171706.1

    NCBI Reference Sequences (RefSeq)

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    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_178128.6 → NP_835229.3  fatty acid desaturase 6

      Status: VALIDATED

      Source sequence(s)
      AC087651, AY203929, BC117230
      Consensus CDS
      CCDS54163.2
      UniProtKB/Swiss-Prot
      Q17RQ7, Q6XYE1, Q8N9I5
      UniProtKB/TrEMBL
      A0A087WYB9
      Related
      ENSP00000481684.1, ENST00000612771.5
      Conserved Domains (2) summary
      pfam00487
      Location:100 → 338
      FA_desaturase; Fatty acid desaturase
      cl00615
      Location:113 → 331
      Membrane-FADS-like; The membrane fatty acid desaturase (Membrane_FADS)-like CD includes membrane FADSs, alkane hydroxylases, beta carotene ketolases (CrtW-like), hydroxylases (CrtR-like), and other related proteins. They are present in all groups of organisms with the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74874787..74893633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024458.3 → XP_016879947.1  fatty acid desaturase 6 isoform X2

      UniProtKB/Swiss-Prot
      Q17RQ7, Q6XYE1, Q8N9I5

    2. XM_047435759.1 → XP_047291715.1  fatty acid desaturase 6 isoform X3

    3. XM_005257224.6 → XP_005257281.2  fatty acid desaturase 6 isoform X1

      UniProtKB/Swiss-Prot
      Q17RQ7, Q6XYE1, Q8N9I5
      Conserved Domains (2) summary
      pfam00487
      Location:100 → 338
      FA_desaturase; Fatty acid desaturase
      cl00615
      Location:113 → 331
      Membrane-FADS-like; The membrane fatty acid desaturase (Membrane_FADS)-like CD includes membrane FADSs, alkane hydroxylases, beta carotene ketolases (CrtW-like), hydroxylases (CrtR-like), and other related proteins. They are present in all groups of organisms with the ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75766585..75785433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315730.1 → XP_054171705.1  fatty acid desaturase 6 isoform X2

    2. XM_054315729.1 → XP_054171704.1  fatty acid desaturase 6 isoform X1

    3. XM_054315731.1 → XP_054171706.1  fatty acid desaturase 6 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9I5.2 GenPept UniProtKB/Swiss-Prot:Q8N9I5

    Gene LinkOut

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

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