LOCUS       NM_053323               1466 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Rattus norvegicus delta(4)-desaturase, sphingolipid 1 (Degs1),
            mRNA.
ACCESSION   NM_053323 XM_346454
VERSION     NM_053323.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1466)
  AUTHORS   Karsai,G., Kraft,F., Haag,N., Korenke,G.C., Hanisch,B., Othman,A.,
            Suriyanarayanan,S., Steiner,R., Knopp,C., Mull,M., Bergmann,M.,
            Schroder,J.M., Weis,J., Elbracht,M., Begemann,M., Hornemann,T. and
            Kurth,I.
  TITLE     DEGS1-associated aberrant sphingolipid metabolism impairs nervous
            system function in humans
  JOURNAL   J Clin Invest 129 (3), 1229-1239 (2019)
   PUBMED   30620338
REFERENCE   2  (bases 1 to 1466)
  AUTHORS   Pant,D.C., Dorboz,I., Schluter,A., Fourcade,S., Launay,N., Joya,J.,
            Aguilera-Albesa,S., Yoldi,M.E., Casasnovas,C., Willis,M.J.,
            Ruiz,M., Ville,D., Lesca,G., Siquier-Pernet,K., Desguerre,I.,
            Yan,H., Wang,J., Burmeister,M., Brady,L., Tarnopolsky,M.,
            Cornet,C., Rubbini,D., Terriente,J., James,K.N., Musaev,D.,
            Zaki,M.S., Patterson,M.C., Lanpher,B.C., Klee,E.W., Pinto E
            Vairo,F., Wohler,E., Sobreira,N.L.M., Cohen,J.S., Maroofian,R.,
            Galehdari,H., Mazaheri,N., Shariati,G., Colleaux,L., Rodriguez,D.,
            Gleeson,J.G., Pujades,C., Fatemi,A., Boespflug-Tanguy,O. and
            Pujol,A.
  TITLE     Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating
            leukodystrophy
  JOURNAL   J Clin Invest 129 (3), 1240-1256 (2019)
   PUBMED   30620337
REFERENCE   3  (bases 1 to 1466)
  AUTHORS   Kaylor,J.J., Yuan,Q., Cook,J., Sarfare,S., Makshanoff,J., Miu,A.,
            Kim,A., Kim,P., Habib,S., Roybal,C.N., Xu,T., Nusinowitz,S. and
            Travis,G.H.
  TITLE     Identification of DES1 as a vitamin A isomerase in Muller glial
            cells of the retina
  JOURNAL   Nat Chem Biol 9 (1), 30-36 (2013)
   PUBMED   23143414
REFERENCE   4  (bases 1 to 1466)
  AUTHORS   Ezanno,H., le Bloc'h,J., Beauchamp,E., Lagadic-Gossmann,D.,
            Legrand,P. and Rioux,V.
  TITLE     Myristic acid increases dihydroceramide Delta4-desaturase 1 (DES1)
            activity in cultured rat hepatocytes
  JOURNAL   Lipids 47 (2), 117-128 (2012)
   PUBMED   22139871
  REMARK    GeneRIF: the myristic acid-associated increase in DES1 activity
            slightly enhanced the number of apoptotic cells
REFERENCE   5  (bases 1 to 1466)
  AUTHORS   Siddique,M.M., Bikman,B.T., Wang,L., Ying,L., Reinhardt,E.,
            Shui,G., Wenk,M.R. and Summers,S.A.
  TITLE     Ablation of dihydroceramide desaturase confers resistance to
            etoposide-induced apoptosis in vitro
  JOURNAL   PLoS One 7 (9), e44042 (2012)
   PUBMED   22984457
REFERENCE   6  (bases 1 to 1466)
  AUTHORS   Devlin,C.M., Lahm,T., Hubbard,W.C., Van Demark,M., Wang,K.C.,
            Wu,X., Bielawska,A., Obeid,L.M., Ivan,M. and Petrache,I.
  TITLE     Dihydroceramide-based response to hypoxia
  JOURNAL   J Biol Chem 286 (44), 38069-38078 (2011)
   PUBMED   21914808
  REMARK    GeneRIF: overexpression of DEGS1 or DEGS2 attenuates the DHC
            accumulation and increased cell proliferation during hypoxia
            Erratum:[J Biol Chem. 2012 May 18;287(21):17425]
REFERENCE   7  (bases 1 to 1466)
  AUTHORS   Beauchamp,E., Goenaga,D., Le Bloc'h,J., Catheline,D., Legrand,P.
            and Rioux,V.
  TITLE     Myristic acid increases the activity of dihydroceramide
            Delta4-desaturase 1 through its N-terminal myristoylation
  JOURNAL   Biochimie 89 (12), 1553-1561 (2007)
   PUBMED   17716801
REFERENCE   8  (bases 1 to 1466)
  AUTHORS   Ternes,P., Franke,S., Zahringer,U., Sperling,P. and Heinz,E.
  TITLE     Identification and characterization of a sphingolipid delta
            4-desaturase family
  JOURNAL   J Biol Chem 277 (28), 25512-25518 (2002)
   PUBMED   11937514
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC083727.1.
            
            On Dec 11, 2007 this sequence version replaced NM_053323.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC083727.1, FQ225269.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00155328, SAMD00155330
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1466
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="13"
                     /map="13q26"
     gene            1..1466
                     /gene="Degs1"
                     /gene_synonym="Degs"
                     /note="delta(4)-desaturase, sphingolipid 1"
                     /db_xref="GeneID:58970"
                     /db_xref="RGD:70917"
     exon            1..129
                     /gene="Degs1"
                     /gene_synonym="Degs"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1019
                     /gene="Degs1"
                     /gene_synonym="Degs"
                     /EC_number="1.14.19.17"
                     /note="degenerative spermatocyte homolog 1, lipid
                     desaturase; degenerative spermatocyte-like protein RDES;
                     dihydroceramide desaturase-1; retinol isomerase"
                     /codon_start=1
                     /product="sphingolipid delta(4)-desaturase DES1"
                     /protein_id="NP_445775.2"
                     /db_xref="GeneID:58970"
                     /db_xref="RGD:70917"
                     /translation="MGNRVSREEFEWVYTDQPHAARRQEILAKYPEIKSLMKPDPNLI
                     WIVTSMLLVQLASFYLVKDLDWKWLMFWSYAFGSCLNHSMTLAIHEISHNFPFGHHKA
                     MWNRWFGMFANLSLGVPYSISFKRYHMDHHRYLGADGIDVDIPTDFEGWFFCTTLRKL
                     VWVILQPLFYAFRPLFINPKPITHLEVINTVIQVTFDVLVYYVFGVKSLVYMLAASLL
                     GLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNVPGKNLPLV
                     RKIASEYYDNLPHYNSWIRVLYDFVMDDTISPYSRMKRPPKGNEIQE"
     exon            130..872
                     /gene="Degs1"
                     /gene_synonym="Degs"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1438
                     /gene="Degs1"
                     /gene_synonym="Degs"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ccgcccgaac gcgagccgga ggcagagctg gtccgcacgc cgcagccatg gggaaccgcg
       61 tgtcccgaga ggagttcgaa tgggtctaca cggaccagcc ccacgccgcc cggcgccagg
      121 agatcttagc gaagtatcca gagataaaat ccttgatgaa gcccgaccct aacctgatct
      181 ggattgtaac ctcaatgctt ctcgtccagt tggcttcgtt ttacttagtc aaagacttgg
      241 actggaagtg gctcatgttt tggtcctatg cctttggcag ctgccttaac cattccatga
      301 ctctggctat ccatgagatt tcccacaact tcccctttgg ccaccacaag gccatgtgga
      361 accgctggtt tggaatgttc gcgaacctct ctctcggggt tccatattcg atttccttta
      421 agaggtacca catggatcat caccggtacc tcggggcgga cggcatcgat gtggatatcc
      481 ctactgattt cgagggctgg ttcttctgca ccactctcag gaagcttgtc tgggttatcc
      541 ttcagcctct cttctatgcg tttagacccc tgttcatcaa ccccaagcca attacccatc
      601 tggaagtcat caacactgtg atccaggtca cttttgacgt cctcgtctac tatgtttttg
      661 gagtgaagtc tctagtgtac atgttggcag cctccctgct cggcctgggc ttgcacccaa
      721 tttcggggca tttcatagcc gaacattaca tgttcctaaa gggacacgaa acatactcct
      781 actatgggcc tctgaactta ctcaccttca atgtgggcta tcacaacgaa caccacgact
      841 tccccaatgt tcctgggaaa aacctgcccc tggtgagaaa aatcgcaagt gagtactatg
      901 ataacctccc acactacaac tcctggatcc gagtgctgta tgactttgtg atggacgaca
      961 caataagtcc ctactcacgg atgaagaggc ccccgaaagg gaatgagatt caggagtaaa
     1021 tgccatcaca gccaaaggaa ttcctgtcca cagcttcaga ataggagata aagtggagct
     1081 ttcctctcgt taaggtcagt gatgctcaga agccgcgctg acgtaatttc cggctcgctg
     1141 acgtaatttc cggctcgctg acgtaatttc cggctaggat ctcggtgtca tcagaagctc
     1201 ctcggccttc agacagccag aactcacact tgctcgcagc cgcacgcctg ctcaccgtac
     1261 tcacgcaacg tatgactgtt actgaggcgt cctcactcat gtctgtcctg ctgcaagcaa
     1321 atcataaaag cttatgttat ttttcactgt aaggttttac tttattaaag cccctaataa
     1381 actgaactgt taatcatata tattaatatg cattgcatta ttatatatat atatattaaa
     1441 aaaaaaaaaa aaaaaaaaaa aaaaaa
//
