LOCUS       NM_021727               1790 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.
ACCESSION   NM_021727
VERSION     NM_021727.5
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 1790)
  AUTHORS   Bobinski,R., Mazurek,U., Zmarzly,N., Ulman-Wlodarz,I., Dutka,M.,
            Pizon,M., Pollok-Waksmanska,W., Pielesz,A., Hajduga,M., Zimmer,K.,
            Bujok,J., Pajak,C. and Ilczak,T.
  TITLE     Placental expression of Fatty Acid Desaturases 1, 2 and 3 in
            selected pregnancy pathologies
  JOURNAL   Acta Biochim Pol 70 (1), 137-144 (2023)
   PUBMED   36652541
  REMARK    GeneRIF: Placental expression of Fatty Acid Desaturases 1, 2 and 3
            in selected pregnancy pathologies.
REFERENCE   2  (bases 1 to 1790)
  AUTHORS   Su,K., Wang,Y., Gu,H., Ma,L. and Xuan,G.
  TITLE     Overexpression of fatty acid desaturase 3 predicts poor prognosis
            in head and neck squamous cell carcinoma
  JOURNAL   Medicine (Baltimore) 101 (49), e32119 (2022)
   PUBMED   36626435
  REMARK    GeneRIF: Overexpression of fatty acid desaturase 3 predicts poor
            prognosis in head and neck squamous cell carcinoma.
REFERENCE   3  (bases 1 to 1790)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1790)
  AUTHORS   Karsai,G., Lone,M., Kutalik,Z., Brenna,J.T., Li,H., Pan,D., von
            Eckardstein,A. and Hornemann,T.
  TITLE     FADS3 is a Delta14Z sphingoid base desaturase that contributes to
            gender differences in the human plasma sphingolipidome
  JOURNAL   J Biol Chem 295 (7), 1889-1897 (2020)
   PUBMED   31862735
  REMARK    GeneRIF: FADS3 is a Delta14Z sphingoid base desaturase that
            contributes to gender differences in the human plasma
            sphingolipidome.
REFERENCE   5  (bases 1 to 1790)
  AUTHORS   Jojima,K., Edagawa,M., Sawai,M., Ohno,Y. and Kihara,A.
  TITLE     Biosynthesis of the anti-lipid-microdomain sphingoid base
            4,14-sphingadiene by the ceramide desaturase FADS3
  JOURNAL   FASEB J 34 (2), 3318-3335 (2020)
   PUBMED   31916624
  REMARK    GeneRIF: Biosynthesis of the anti-lipid-microdomain sphingoid base
            4,14-sphingadiene by the ceramide desaturase FADS3.
REFERENCE   6  (bases 1 to 1790)
  AUTHORS   Plaisier,C.L., Horvath,S., Huertas-Vazquez,A., Cruz-Bautista,I.,
            Herrera,M.F., Tusie-Luna,T., Aguilar-Salinas,C. and Pajukanta,P.
  TITLE     A systems genetics approach implicates USF1, FADS3, and other
            causal candidate genes for familial combined hyperlipidemia
  JOURNAL   PLoS Genet 5 (9), e1000642 (2009)
   PUBMED   19750004
  REMARK    GeneRIF: USF1 and FADS3 are causal candidate genes for the Mexican
            familial combined hyperlipidemia.
REFERENCE   7  (bases 1 to 1790)
  AUTHORS   Tanaka,T., Shen,J., Abecasis,G.R., Kisialiou,A., Ordovas,J.M.,
            Guralnik,J.M., Singleton,A., Bandinelli,S., Cherubini,A.,
            Arnett,D., Tsai,M.Y. and Ferrucci,L.
  TITLE     Genome-wide association study of plasma polyunsaturated fatty acids
            in the InCHIANTI Study
  JOURNAL   PLoS Genet 5 (1), e1000338 (2009)
   PUBMED   19148276
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1790)
  AUTHORS   Aulchenko,Y.S., Ripatti,S., Lindqvist,I., Boomsma,D., Heid,I.M.,
            Pramstaller,P.P., Penninx,B.W., Janssens,A.C., Wilson,J.F.,
            Spector,T., Martin,N.G., Pedersen,N.L., Kyvik,K.O., Kaprio,J.,
            Hofman,A., Freimer,N.B., Jarvelin,M.R., Gyllensten,U., Campbell,H.,
            Rudan,I., Johansson,A., Marroni,F., Hayward,C., Vitart,V.,
            Jonasson,I., Pattaro,C., Wright,A., Hastie,N., Pichler,I.,
            Hicks,A.A., Falchi,M., Willemsen,G., Hottenga,J.J., de Geus,E.J.,
            Montgomery,G.W., Whitfield,J., Magnusson,P., Saharinen,J.,
            Perola,M., Silander,K., Isaacs,A., Sijbrands,E.J.,
            Uitterlinden,A.G., Witteman,J.C., Oostra,B.A., Elliott,P.,
            Ruokonen,A., Sabatti,C., Gieger,C., Meitinger,T., Kronenberg,F.,
            Doring,A., Wichmann,H.E., Smit,J.H., McCarthy,M.I., van Duijn,C.M.
            and Peltonen,L.
  CONSRTM   ENGAGE Consortium
  TITLE     Loci influencing lipid levels and coronary heart disease risk in 16
            European population cohorts
  JOURNAL   Nat Genet 41 (1), 47-55 (2009)
   PUBMED   19060911
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 1790)
  AUTHORS   Kathiresan,S., Willer,C.J., Peloso,G.M., Demissie,S., Musunuru,K.,
            Schadt,E.E., Kaplan,L., Bennett,D., Li,Y., Tanaka,T., Voight,B.F.,
            Bonnycastle,L.L., Jackson,A.U., Crawford,G., Surti,A., Guiducci,C.,
            Burtt,N.P., Parish,S., Clarke,R., Zelenika,D., Kubalanza,K.A.,
            Morken,M.A., Scott,L.J., Stringham,H.M., Galan,P., Swift,A.J.,
            Kuusisto,J., Bergman,R.N., Sundvall,J., Laakso,M., Ferrucci,L.,
            Scheet,P., Sanna,S., Uda,M., Yang,Q., Lunetta,K.L., Dupuis,J., de
            Bakker,P.I., O'Donnell,C.J., Chambers,J.C., Kooner,J.S.,
            Hercberg,S., Meneton,P., Lakatta,E.G., Scuteri,A., Schlessinger,D.,
            Tuomilehto,J., Collins,F.S., Groop,L., Altshuler,D., Collins,R.,
            Lathrop,G.M., Melander,O., Salomaa,V., Peltonen,L.,
            Orho-Melander,M., Ordovas,J.M., Boehnke,M., Abecasis,G.R.,
            Mohlke,K.L. and Cupples,L.A.
  TITLE     Common variants at 30 loci contribute to polygenic dyslipidemia
  JOURNAL   Nat Genet 41 (1), 56-65 (2009)
   PUBMED   19060906
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   10 (bases 1 to 1790)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006260.2.
            
            On Nov 23, 2018 this sequence version replaced NM_021727.4.
            
            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 :: BC004901.2, AF084560.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278829.7/ ENSP00000278829.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-377               AP006260.2         53358-53734         c
            378-488             AP006260.2         42230-42340         c
            489-686             AP006260.2         41501-41698         c
            687-788             AP006260.2         40935-41036         c
            789-911             AP006260.2         40701-40823         c
            912-972             AP006260.2         40344-40404         c
            973-1049            AP006260.2         39700-39776         c
            1050-1147           AP006260.2         39055-39152         c
            1148-1244           AP006260.2         38548-38644         c
            1245-1324           AP006260.2         38300-38379         c
            1325-1450           AP006260.2         38040-38165         c
            1451-1790           AP006260.2         35715-36054         c
FEATURES             Location/Qualifiers
     source          1..1790
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..1790
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /note="fatty acid desaturase 3"
                     /db_xref="GeneID:3995"
                     /db_xref="HGNC:HGNC:3576"
                     /db_xref="MIM:606150"
     exon            1..377
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..1502
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /EC_number="1.14.19.-"
                     /note="delta-9-desaturase; delta-9 fatty acid desaturase;
                     linoleoyl-CoA desaturase (delta-9-desaturase)-like 3;
                     cytochrome b5-related protein; delta(13) desaturase;
                     delta(13) fatty acid desaturase"
                     /codon_start=1
                     /product="fatty acid desaturase 3"
                     /protein_id="NP_068373.1"
                     /db_xref="CCDS:CCDS8013.1"
                     /db_xref="GeneID:3995"
                     /db_xref="HGNC:HGNC:3576"
                     /db_xref="MIM:606150"
                     /translation="MGGVGEPGPREGPAQPGAPLPTFCWEQIRAHDQPGDKWLVIERR
                     VYDISRWAQRHPGGSRLIGHHGAEDATDAFRAFHQDLNFVRKFLQPLLIGELAPEEPS
                     QDGPLNAQLVEDFRALHQAAEDMKLFDASPTFFAFLLGHILAMEVLAWLLIYLLGPGW
                     VPSALAAFILAISQAQSWCLQHDLGHASIFKKSWWNHVAQKFVMGQLKGFSAHWWNFR
                     HFQHHAKPNIFHKDPDVTVAPVFLLGESSVEYGKKKRRYLPYNQQHLYFFLIGPPLLT
                     LVNFEVENLAYMLVCMQWADLLWAASFYARFFLSYLPFYGVPGVLLFFVAVRVLESHW
                     FVWITQMNHIPKEIGHEKHRDWVSSQLAATCNVEPSLFTNWFSGHLNFQIEHHLFPRM
                     PRHNYSRVAPLVKSLCAKHGLSYEVKPFLTALVDIVRSLKKSGDIWLDAYLHQ"
     exon            378..488
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            489..686
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            687..788
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            789..911
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            912..972
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1049
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1147
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1244
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1324
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..1450
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1790
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1770..1775
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /note="hexamer: ATTAAA"
     polyA_site      1790
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /note="major polyA site"
ORIGIN      
        1 gagccgggag gcgcacgctc gctcgtacgg cggccgcggc ggcagggcgg ggccggagca
       61 gcgggcggcg gcggaggcgg cgcccgggag cgctcttcgc ttccctcggg gtcttgctcg
      121 gacctcggcc accgcctggg atccccagga ctcgtgcgtg cagcatgggc ggcgtcgggg
      181 agccgggacc gcgggaggga cccgcgcagc cgggggcgcc gctgcccacc ttctgctggg
      241 agcagatccg cgcgcacgac cagcccggcg acaagtggct ggtcatcgag cgccgcgtct
      301 acgacatcag ccgctgggca cagcggcacc cagggggcag ccgcctcatc ggccaccacg
      361 gcgctgagga cgccacggat gccttccgtg ccttccatca agatctcaat tttgtgcgca
      421 agttcctaca gcccctgttg attggagagc tggctccgga agaacccagc caggatggac
      481 ccctgaatgc gcagctggtc gaggacttcc gagccctgca ccaggcagcc gaggacatga
      541 agctgtttga tgccagtccc accttctttg ctttcctact gggccacatc ctggccatgg
      601 aggtgctggc ctggctcctt atctacctcc tgggtcctgg ctgggtgccc agtgccctgg
      661 ccgccttcat cctggccatc tctcaggctc agtcctggtg tctgcagcat gacctgggcc
      721 atgcctccat cttcaagaag tcctggtgga accacgtggc ccagaagttc gtgatggggc
      781 agctaaaggg cttctccgcc cactggtgga acttccgcca cttccagcac cacgccaagc
      841 ccaacatctt ccacaaagac ccagacgtga cggtggcgcc cgtcttcctc ctgggggagt
      901 catccgtcga gtatggcaag aagaaacgca gatacctacc ctacaaccag cagcacctgt
      961 acttcttcct gatcggcccg ccgctgctca ccctggtgaa ctttgaagtg gaaaatctgg
     1021 cgtacatgct ggtgtgcatg cagtgggcgg atttgctctg ggccgccagc ttctatgccc
     1081 gcttcttctt atcctacctc cccttctacg gcgtccctgg ggtgctgctc ttctttgttg
     1141 ctgtcagggt cctggaaagc cactggttcg tgtggatcac acagatgaac cacatcccca
     1201 aggagatcgg ccacgagaag caccgggact gggtcagctc tcagctggca gccacctgca
     1261 acgtggagcc ctcacttttc accaactggt tcagcgggca cctcaacttc cagatcgagc
     1321 accacctctt ccccaggatg ccgagacaca actacagccg ggtggccccg ctggtcaagt
     1381 cgctgtgtgc caagcacggc ctcagctacg aagtgaagcc cttcctcacc gcgctggtgg
     1441 acatcgtcag gtccctgaag aagtctggtg acatctggct ggacgcctac ctccatcagt
     1501 gaaggcaaca cccaggcggg cagagaaggg ctcagggcac cagcaaccaa gccagccccc
     1561 ggcgggatcg ataccctcac ccctccactg gccagcctgg gggtgccctg cctgccctcc
     1621 tggtactgtt gtcttcccct cggccccctc acatgtgtat tcagcagccc tatggccttg
     1681 gctctgggcc tgatgggaca ggggtagagg gaaggtgagc atagcacatt ttcctagagc
     1741 gagaattggg ggaaagctgt tatttttata ttaaaataca ttcagatgta
//
