LOCUS       NM_013402               4364 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.
ACCESSION   NM_013402
VERSION     NM_013402.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4364)
  AUTHORS   Pavlova,N.I., Krylov,A.V., Bochurov,A.A., Alekseev,V.A. and
            Kurtanov,K.A.
  TITLE     High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase
            Genes in the Yakut Population
  JOURNAL   Genet Test Mol Biomarkers 28 (8), 305-310 (2024)
   PUBMED   38860387
  REMARK    GeneRIF: High Frequency of Ancestral Haplotype A of Fatty Acid
            Desaturase Genes in the Yakut Population.
REFERENCE   2  (bases 1 to 4364)
  AUTHORS   Lorito,N., Subbiani,A., Smiriglia,A., Bacci,M., Bonechi,F.,
            Tronci,L., Romano,E., Corrado,A., Longo,D.L., Iozzo,M.,
            Ippolito,L., Comito,G., Giannoni,E., Meattini,I., Avgustinova,A.,
            Chiarugi,P., Bachi,A. and Morandi,A.
  TITLE     FADS1/2 control lipid metabolism and ferroptosis susceptibility in
            triple-negative breast cancer
  JOURNAL   EMBO Mol Med 16 (7), 1533-1559 (2024)
   PUBMED   38926633
  REMARK    GeneRIF: FADS1/2 control lipid metabolism and ferroptosis
            susceptibility in triple-negative breast cancer.
REFERENCE   3  (bases 1 to 4364)
  AUTHORS   Miklavcic,J.J., Paterson,N., Hahn-Holbrook,J. and Glynn,L.
  TITLE     Impact of FADS genotype on polyunsaturated fatty acid content in
            human milk extracellular vesicles: A genetic association study
  JOURNAL   JPEN J Parenter Enteral Nutr 48 (4), 479-485 (2024)
   PUBMED   38566550
  REMARK    GeneRIF: Impact of FADS genotype on polyunsaturated fatty acid
            content in human milk extracellular vesicles: A genetic association
            study.
REFERENCE   4  (bases 1 to 4364)
  AUTHORS   Wu,X., Jiang,L., Qi,H., Hu,C., Jia,X., Lin,H., Wang,S., Lin,L.,
            Zhang,Y., Zheng,R., Li,M., Wang,T., Zhao,Z., Xu,M., Xu,Y., Chen,Y.,
            Zheng,J., Bi,Y. and Lu,J.
  TITLE     Brain tissue- and cell type-specific eQTL Mendelian randomization
            reveals efficacy of FADS1 and FADS2 on cognitive function
  JOURNAL   Transl Psychiatry 14 (1), 77 (2024)
   PUBMED   38316767
  REMARK    GeneRIF: Brain tissue- and cell type-specific eQTL Mendelian
            randomization reveals efficacy of FADS1 and FADS2 on cognitive
            function.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4364)
  AUTHORS   Friden,M., Olsson,E., Lind,L., Rosqvist,F. and Riserus,U.
  TITLE     Substitution analyses of foods with varying fat quality and the
            associations with all-cause mortality and impact of the FADS-1
            genotype in elderly men
  JOURNAL   Eur J Nutr 63 (1), 145-153 (2024)
   PUBMED   37728746
  REMARK    GeneRIF: Substitution analyses of foods with varying fat quality
            and the associations with all-cause mortality and impact of the
            FADS-1 genotype in elderly men.
REFERENCE   6  (bases 1 to 4364)
  AUTHORS   Brizio,C., Galluccio,M., Wait,R., Torchetti,E.M., Bafunno,V.,
            Accardi,R., Gianazza,E., Indiveri,C. and Barile,M.
  TITLE     Over-expression in Escherichia coli and characterization of two
            recombinant isoforms of human FAD synthetase
  JOURNAL   Biochem Biophys Res Commun 344 (3), 1008-1016 (2006)
   PUBMED   16643857
  REMARK    GeneRIF: This is the first report on characterization of human
            FADS, and the first cloning and over-expression of FADS from an
            organism higher than yeast.
REFERENCE   7  (bases 1 to 4364)
  AUTHORS   Marquardt,A., Stohr,H., White,K. and Weber,B.H.
  TITLE     cDNA cloning, genomic structure, and chromosomal localization of
            three members of the human fatty acid desaturase family
  JOURNAL   Genomics 66 (2), 175-183 (2000)
   PUBMED   10860662
REFERENCE   8  (bases 1 to 4364)
  AUTHORS   Leonard,A.E., Kelder,B., Bobik,E.G., Chuang,L.T.,
            Parker-Barnes,J.M., Thurmond,J.M., Kroeger,P.E., Kopchick,J.J.,
            Huang,Y.S. and Mukerji,P.
  TITLE     cDNA cloning and characterization of human Delta5-desaturase
            involved in the biosynthesis of arachidonic acid
  JOURNAL   Biochem J 347 Pt 3 (Pt 3), 719-724 (2000)
   PUBMED   10769175
REFERENCE   9  (bases 1 to 4364)
  AUTHORS   Cho,H.P., Nakamura,M. and Clarke,S.D.
  TITLE     Cloning, expression, and fatty acid regulation of the human delta-5
            desaturase
  JOURNAL   J Biol Chem 274 (52), 37335-37339 (1999)
   PUBMED   10601301
REFERENCE   10 (bases 1 to 4364)
  AUTHORS   Stohr,H., Marquardt,A., Rivera,A., Cooper,P.R., Nowak,N.J.,
            Shows,T.B., Gerhard,D.S. and Weber,B.H.
  TITLE     A gene map of the Best's vitelliform macular dystrophy region in
            chromosome 11q12-q13.1
  JOURNAL   Genome Res 8 (1), 48-56 (1998)
   PUBMED   9445487
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA231492.1, AL512760.1 and
            AI052027.1.
            
            On May 17, 2019 this sequence version replaced NM_013402.6.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL512760.1, SRR18074969.233703.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000350997.12/ ENSP00000322229.9
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-165               DA231492.1         56-220
            166-3794            AL512760.1         1-3629
            3795-4359           AL512760.1         3631-4195
            4360-4364           AI052027.1         15-19               c
FEATURES             Location/Qualifiers
     source          1..4364
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..4364
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /note="fatty acid desaturase 1"
                     /db_xref="GeneID:3992"
                     /db_xref="HGNC:HGNC:3574"
                     /db_xref="MIM:606148"
     exon            1..449
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1580
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /EC_number="1.14.19.44"
                     /note="delta-5 fatty acid desaturase; linoleoyl-CoA
                     desaturase (delta-6-desaturase)-like 1; delta(5)
                     desaturase"
                     /codon_start=1
                     /product="acyl-CoA (8-3)-desaturase"
                     /protein_id="NP_037534.5"
                     /db_xref="CCDS:CCDS8011.2"
                     /db_xref="GeneID:3992"
                     /db_xref="HGNC:HGNC:3574"
                     /db_xref="MIM:606148"
                     /translation="MGTRAARPAGLPCGAENPARRRLALGARQQIHSWSPRTPSTRLT
                     APAGPARGVARPAMAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNI
                     SEFTRRHPGGSRVISHYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPT
                     KNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFL
                     LCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQH
                     HAKPNCFRKDPDINMHPFFFALGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPL
                     YFQWYIFYFVIQRKKWVDLAWMITFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFV
                     WVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPR
                     HNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ"
     exon            450..560
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            561..758
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            759..860
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            861..989
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1050
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1127
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1225
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            1226..1322
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1402
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..1528
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     exon            1529..4364
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4342..4347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /note="hexamer: AATAAA"
     polyA_site      4364
                     /gene="FADS1"
                     /gene_synonym="D5D; FADS6; FADSD5; LLCDL1; TU12"
                     /note="major polyA site"
ORIGIN      
        1 ggcagcccag ctgtgagttg cccaagaccc accgggggac gggatctcgc tccccgcgcc
       61 acgaggctcg gccaatggga acgcgcgctg cgaggcccgc cggtctgccc tgcggtgctg
      121 aaaacccggc gcgcaggcgg ctggctctgg gcgcgcgcca gcaaatccac tcctggagcc
      181 cgcggacccc gagcacgcgc ctgacagccc ctgctggccc ggcgcgcggc gtcgccaggc
      241 cagctatggc ccccgacccg gtggccgccg agaccgcggc tcagggacct accccgcgct
      301 acttcacctg ggacgaggtg gcccagcgct cagggtgcga ggagcggtgg ctagtgatcg
      361 accgtaaggt gtacaacatc agcgagttca cccgccggca tccagggggc tcccgggtca
      421 tcagccacta cgccgggcag gatgccacgg atccctttgt ggccttccac atcaacaagg
      481 gccttgtgaa gaagtatatg aactctctcc tgattggaga actgtctcca gagcagccca
      541 gctttgagcc caccaagaat aaagagctga cagatgagtt ccgggagctg cgggccacag
      601 tggagcggat ggggctcatg aaggccaacc atgtcttctt cctgctgtac ctgctgcaca
      661 tcttgctgct ggatggtgca gcctggctca ccctttgggt ctttgggacg tcctttttgc
      721 ccttcctcct ctgtgcggtg ctgctcagtg cagttcaggc ccaggctggc tggctgcagc
      781 atgactttgg gcacctgtcg gtcttcagca cctcaaagtg gaaccatctg ctacatcatt
      841 ttgtgattgg ccacctgaag ggggcccccg ccagttggtg gaaccacatg cacttccagc
      901 accatgccaa gcccaactgc ttccgcaaag acccagacat caacatgcat cccttcttct
      961 ttgccttggg gaagatcctc tctgtggagc ttgggaaaca gaagaaaaaa tatatgccgt
     1021 acaaccacca gcacaaatac ttcttcctaa ttgggccccc agccttgctg cctctctact
     1081 tccagtggta tattttctat tttgttatcc agcgaaagaa gtgggtggac ttggcctgga
     1141 tgattacctt ctacgtccgc ttcttcctca cttatgtgcc actattgggg ctgaaagcct
     1201 tcctgggcct tttcttcata gtcaggttcc tggaaagcaa ctggtttgtg tgggtgacac
     1261 agatgaacca tattcccatg cacattgatc atgaccggaa catggactgg gtttccaccc
     1321 agctccaggc cacatgcaat gtccacaagt ctgccttcaa tgactggttc agtggacacc
     1381 tcaacttcca gattgagcac catctttttc ccacgatgcc tcgacacaat taccacaaag
     1441 tggctcccct ggtgcagtcc ttgtgtgcca agcatggcat agagtaccag tccaagcccc
     1501 tgctgtcagc cttcgccgac atcatccact cactaaagga gtcagggcag ctctggctag
     1561 atgcctatct tcaccaataa caacagccac cctgcccagt ctggaagaag aggaggaaga
     1621 ctctggagcc aaggcagagg ggagcttgag ggacaatgcc actatagttt aatactcaga
     1681 gggggttggg tttggggaca taaagcctct gactcaaact cctccctttt atcttctagc
     1741 cacagttcta agacccaaag tggggggtgg acacagaagt ccctaggagg gaaggagctg
     1801 ttggggcagg ggtgtaaatt atttcctttt tctagtttgg cacatgcagg tagttggtga
     1861 acagagagaa ccaggagggt aacagaagag gagggaccta ctgaacccag agtcaggaag
     1921 agatttaaca ctaaaattcc actcatgccg ggcgtggtgg cacgcgcctg taatcccagc
     1981 tacccaggag gctgaggcag gagaatcgct tgaaccgggg aggtggaggt tgcagtgagc
     2041 tgagatcacg ccattgtact ccagcctggg cgacagagca agactccatt tcaaaaaaaa
     2101 aaaaaaaatc cactcatata aaaggtgagc tcagctcact ggtccatttc tcagtggctt
     2161 ctccatcctc atttgcaaac ctcagaggga taaggcagtt gaacctgatg agcaagaatt
     2221 ataacagcaa ggaaacatta atgcttagaa ttctgagatc cagcacaact cagtctgtgg
     2281 gagctcagct cgctgcccag ggataggtat gacctatgtc tgccttaggc tgctgggaga
     2341 tgccattctc cagtttcaga agcaggcagg gcaaaggtca agactgtggt attggggtct
     2401 tttggctctg aaggatcctg gaaccactga ttttggttta ttccctccag ggtctaaaga
     2461 gaacaagagg tgctagctct taccaaaaca gatggtagag agagttgctg gctatttaaa
     2521 aagctctttc atcttttaat tcacctcttc ttttcacctc tttaaccact cctcaggaac
     2581 agaacacttc taggactggg ggtcttttag ctccataagc aagtgagcag atgggacaag
     2641 ttagtctttt ctccctagaa acaaagggga tgcccagtgg tttccctttg cttcccaacc
     2701 taaaatttca agtttaataa aatagcaatt agcagaagtg accaaattgg gagataatta
     2761 tcagtcatga ggaaagacac agatttcggt cataaagaat gtaagggcta taagtagaaa
     2821 ctttctataa cctaaatgat gttatagaat tatttttgag caggagcaga aagattaaat
     2881 atgatcactt catacttcta aatcagaaat aggaagatta aaaccacaga acagtttgtg
     2941 atttctattg ctgtagctag gtatcttact ctgtccactc ttgttcaagt atctaactct
     3001 tctggaaacc aaataggctt tagaagagat tatcctatat tcctatcagt ataatactaa
     3061 aatgtaactt tttaatcatc tggtttttaa aagataaaca gtttagccca tctctccaga
     3121 gagcaaacat aggaatatga ctcaggagcc tcctagggct tatcatcagc cctcacaccc
     3181 gcttccccct ccaacccaca gcctttgctt ccaggtggca ggattactac tttgcctctt
     3241 cagcagcatc tactctaggc atattgatca ttttagacac tgggagaaga gaacctcaaa
     3301 ctaggaggaa aagacagagc ctccacttag ttttgggagg ggatggcaga cagtcaagga
     3361 gatgagcgtc ctaaggcatg ttgggatagg gtcagatgca ccacccatgg agaggtttgt
     3421 caacacaaag acatggaagg ttagaggttt gtcaacaaaa agacatggaa ggttaggttt
     3481 gtcaacacaa agacatggaa gattagaggt ttgtcaacac aaagacacag gaagaatggg
     3541 ctgcagaaga tttagatgtt ttccatttgg gcacatttta cttagctgga gaactaggtt
     3601 taaaacagcc tgggtaggaa aattagaagc aagctggatg cagtggctca tgcctgtaat
     3661 cccaacactt ttgggaggtc caggcaggag gatcacttgg gcccaggagg tcaagcctgc
     3721 agcgagctga gatcacacca ctgcactcca gcctggggtg atagaacaag accctgtctc
     3781 aaaaaaaaaa aaaacaacaa aaacttagaa ttgaggagtt gtacctccat tggcttcctc
     3841 actccaaaat aggtgctgat ccttcctatt cctattcttt gccacctttt gggtgtggtg
     3901 tcaccagcct gtttagccaa gtagctttgg gcataggctg cccaatctga gcaaacacca
     3961 gtgaggctct attgagccaa gaccaagtcc tcaaagcacc tgaaccactg tggccttctc
     4021 agcctacagc agtgtggtct cttacatggc cacaaaggga cacacagtga caaaaggctc
     4081 ggaatgttac aatggtaaaa tgagtgatct caaatccact gacagatata aaataggctt
     4141 agagaggaaa agctgcctct ggtcaagtag atcatggcag catgaattcc aactcacttt
     4201 tttacaactc caacttctat gtttatcttt gttactttca cttttttaca acctggccag
     4261 aggcattttt taaatcaggc ccaatatcag tattcttttt gtgtgtgcca attttgttat
     4321 cacatcccta tgaagttgaa aaataaagtt aattttgacc aaaa
//
