LOCUS       NM_007853               1853 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus delta 4-desaturase, sphingolipid 1 (Degs1), transcript
            variant 1, mRNA.
ACCESSION   NM_007853
VERSION     NM_007853.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1853)
  AUTHORS   Butera,A., Agostini,M., Cassandri,M., De Nicola,F., Fanciulli,M.,
            D'Ambrosio,L., Falasca,L., Nardacci,R., Wang,L., Piacentini,M.,
            Knight,R.A., Jia,W., Sun,Q., Shi,Y., Wang,Y., Candi,E. and
            Melino,G.
  TITLE     ZFP750 affects the cutaneous barrier through regulating lipid
            metabolism
  JOURNAL   Sci Adv 9 (17), eadg5423 (2023)
   PUBMED   37115925
REFERENCE   2  (bases 1 to 1853)
  AUTHORS   Chaurasia,B., Tippetts,T.S., Mayoral Monibas,R., Liu,J., Li,Y.,
            Wang,L., Wilkerson,J.L., Sweeney,C.R., Pereira,R.F., Sumida,D.H.,
            Maschek,J.A., Cox,J.E., Kaddai,V., Lancaster,G.I., Siddique,M.M.,
            Poss,A., Pearson,M., Satapati,S., Zhou,H., McLaren,D.G.,
            Previs,S.F., Chen,Y., Qian,Y., Petrov,A., Wu,M., Shen,X., Yao,J.,
            Nunes,C.N., Howard,A.D., Wang,L., Erion,M.D., Rutter,J.,
            Holland,W.L., Kelley,D.E. and Summers,S.A.
  TITLE     Targeting a ceramide double bond improves insulin resistance and
            hepatic steatosis
  JOURNAL   Science 365 (6451), 386-392 (2019)
   PUBMED   31273070
  REMARK    GeneRIF: These studies suggest that inhibition of DES1 may provide
            a means of treating hepatic steatosis and metabolic disorders
REFERENCE   3  (bases 1 to 1853)
  AUTHORS   Kiser,P.D., Kolesnikov,A.V., Kiser,J.Z., Dong,Z., Chaurasia,B.,
            Wang,L., Summers,S.A., Hoang,T., Blackshaw,S., Peachey,N.S.,
            Kefalov,V.J. and Palczewski,K.
  TITLE     Conditional deletion of Des1 in the mouse retina does not impair
            the visual cycle in cones
  JOURNAL   FASEB J 33 (4), 5782-5792 (2019)
   PUBMED   30645148
  REMARK    GeneRIF: Des1 expression in Muller cells is not required for cone
            visual pigment regeneration in the mouse.
REFERENCE   4  (bases 1 to 1853)
  AUTHORS   Pathak,D., Mehendale,N., Singh,S., Mallik,R. and Kamat,S.S.
  TITLE     Lipidomics Suggests a New Role for Ceramide Synthase in
            Phagocytosis
  JOURNAL   ACS Chem Biol 13 (8), 2280-2287 (2018)
   PUBMED   29963848
  REMARK    GeneRIF: Biochemical assays, cellular lipid feeding experiments,
            and pharmacological blockade of ceramide synthase (dihydroceramide
            desaturase) together show that this enzyme indeed controls the flux
            of ceramides on maturing phagosomes.
REFERENCE   5  (bases 1 to 1853)
  AUTHORS   Bharath,L.P., Ruan,T., Li,Y., Ravindran,A., Wan,X., Nhan,J.K.,
            Walker,M.L., Deeter,L., Goodrich,R., Johnson,E., Munday,D.,
            Mueller,R., Kunz,D., Jones,D., Reese,V., Summers,S.A., Babu,P.V.,
            Holland,W.L., Zhang,Q.J., Abel,E.D. and Symons,J.D.
  TITLE     Ceramide-Initiated Protein Phosphatase 2A Activation Contributes to
            Arterial Dysfunction In Vivo
  JOURNAL   Diabetes 64 (11), 3914-3926 (2015)
   PUBMED   26253611
REFERENCE   6  (bases 1 to 1853)
  AUTHORS   Triola,G., Fabrias,G., Dragusin,M., Niederhausen,L., Broere,R.,
            Llebaria,A. and van Echten-Deckert,G.
  TITLE     Specificity of the dihydroceramide desaturase inhibitor
            N-[(1R,
            2S)-2-hydroxy-1-hydroxymethyl-2-(2-tridecyl-1-
            cyclopropenyl)ethyl]octanamide (GT11) in primary cultured
            cerebellar neurons
  JOURNAL   Mol Pharmacol 66 (6), 1671-1678 (2004)
   PUBMED   15371559
  REMARK    GeneRIF: GT11 is the first specific inhibitor of dihydroceramide
            desaturase described so far
REFERENCE   7  (bases 1 to 1853)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   8  (bases 1 to 1853)
  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
REFERENCE   9  (bases 1 to 1853)
  AUTHORS   Bulfone,A., Gattuso,C., Marchitiello,A., Pardini,C., Boncinelli,E.,
            Borsani,G., Banfi,S. and Ballabio,A.
  TITLE     The embryonic expression pattern of 40 murine cDNAs homologous to
            Drosophila mutant genes (Dres): a comparative and topographic
            approach to predict gene function
  JOURNAL   Hum Mol Genet 7 (13), 1997-2006 (1998)
   PUBMED   9817915
REFERENCE   10 (bases 1 to 1853)
  AUTHORS   Endo,K., Matsuda,Y. and Kobayashi,S.
  TITLE     Mdes, a mouse homolog of the Drosophila degenerative spermatocyte
            gene is expressed during mouse spermatogenesis
  JOURNAL   Dev Growth Differ 39 (3), 399-403 (1997)
   PUBMED   9227906
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC139295.5 and AK077257.1.
            
            On Feb 13, 2018 this sequence version replaced NM_007853.4.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AF466376.1, BC003751.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-74                AC139295.5         86100-86173         c
            75-1119             AK077257.1         34-1078
            1120-1120           AC139295.5         80069-80069         c
            1121-1853           AK077257.1         1080-1812
FEATURES             Location/Qualifiers
     source          1..1853
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 84.93 cM"
     gene            1..1853
                     /gene="Degs1"
                     /gene_synonym="Degs; Des1; Mdes"
                     /note="delta 4-desaturase, sphingolipid 1"
                     /db_xref="GeneID:13244"
                     /db_xref="MGI:MGI:1097711"
     exon            1..180
                     /gene="Degs1"
                     /gene_synonym="Degs; Des1; Mdes"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1070
                     /gene="Degs1"
                     /gene_synonym="Degs; Des1; Mdes"
                     /EC_number="1.14.19.17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sphingolipid delta(4)-desaturase DES1; dihydroceramide
                     desaturase; degenerative spermatocyte homolog 1;
                     dihydroceramide desaturase-1; retinol isomerase"
                     /codon_start=1
                     /product="sphingolipid delta(4)-desaturase DES1 isoform 1"
                     /protein_id="NP_031879.1"
                     /db_xref="CCDS:CCDS15587.1"
                     /db_xref="GeneID:13244"
                     /db_xref="MGI:MGI:1097711"
                     /translation="MGSRVSREEFEWVYTDQPHAARRKEILAKYPEIKSLMKPDHNLI
                     WIVAMMLLVQLASFYLVKDLDWKWVIFWSYVFGSCLNHSMTLAIHEISHNFPFGHHKA
                     LWNRWFGMFANLSLGVPYSISFKRYHMDHHRYLGADKIDVDIPTDFEGWFFCTTFRKF
                     VWVILQPLFYAFRPLFINPKPITYLEIINTVIQITFDIIIYYVFGVKSLVYMLAATLL
                     GLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNVPGKNLPMV
                     RKIASEYYDDLPHYNSWIKVLYDFVTDDTISPYSRMKRPPKGNEILE"
     exon            181..923
                     /gene="Degs1"
                     /gene_synonym="Degs; Des1; Mdes"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1853
                     /gene="Degs1"
                     /gene_synonym="Degs; Des1; Mdes"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1828..1833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Degs1"
                     /gene_synonym="Degs; Des1; Mdes"
                     /note="hexamer: AATAAA"
     polyA_site      1853
                     /gene="Degs1"
                     /gene_synonym="Degs; Des1; Mdes"
                     /note="major polyA site"
ORIGIN      
        1 tctgcccgcg tccccgcggc ttatcgacta gagccgggcc tcgagctgcc gccgtccgga
       61 cacgagccgg aggcagagcg ggtccacagg ccgcagccat gggtagccgc gtgtcccgag
      121 aggagttcga atgggtctac acggaccagc cccacgccgc ccggcgcaag gagatcttag
      181 caaagtatcc agagatcaag tccttgatga aacctgacca caatctgatc tggattgtag
      241 ccatgatgct tctcgtccag ctggcttcat tttacttagt caaagatttg gactggaaat
      301 gggtcatatt ttggtcctat gtctttggca gctgccttaa ccactccatg actctggcta
      361 tccatgagat ttcccacaat ttcccctttg gccaccacaa ggccctgtgg aaccgctggt
      421 ttggaatgtt tgctaacctc tctctcggag tgccatactc gatttccttt aagagatacc
      481 acatggatca ccaccggtac ctcggagcgg ataagattga tgtagatatt cccaccgatt
      541 tcgagggctg gttcttctgc accactttca ggaaatttgt ctgggttatc cttcagcctc
      601 tcttttatgc ttttagaccc ctgttcatca atcccaaacc cattacctat ctggaaatca
      661 tcaatactgt gatccagatc acctttgaca ttatcattta ttatgtgttt ggagtgaaat
      721 ctttagtcta catgttggca gccaccttgc ttggcctggg tttgcaccca atttctgggc
      781 attttatagc cgaacattac atgttcttga agggacacga aacctactcc tattatgggc
      841 ctctgaactt gctcaccttc aatgtgggct atcataacga gcaccatgac ttccccaacg
      901 ttcctgggaa aaacctgccc atggtgagga agatcgcaag tgagtactac gatgacctcc
      961 cgcactacaa ctcctggatc aaggtgctct atgactttgt gacggatgac acaataagtc
     1021 cctactcgcg gatgaagagg cctccgaaag ggaacgagat tctggagtaa atatcacagc
     1081 caaaggaatt cctgtccacg gcttcaaaat aggtgataga gtggagtttt tatctcgtta
     1141 ggcttatggt cagtgatgct cggaagctgg gctggcatga ttgccaactc agatctcggt
     1201 gtcatcagag gctcctcagc cttcagacag cccgacgacg acgcttgacg ctagcggctg
     1261 ctgtgcttgc tcactcccct gcactcacga gatgttatta ctgttactga gggcgtcttt
     1321 cctcgtgtct gtcatgctgt gagcaaatca taaaaagctt atattatttt tcactataaa
     1381 gttactttat taaagcacct aataaactga actgttaatc atatatatta ataatattca
     1441 ttgcattatt atatttctat tgtattggta tacttaccag agtgctaggg agaactttac
     1501 aatttcatcc agaaatttaa ttttgttaaa ggcttgactt gagttcatat agtattgtgt
     1561 gagttccctc tggattcaat catttgttct tagtggggaa tggaaggctt ataagtctcg
     1621 ggaaactgat gaaattctcc atcacaaagt ccaaagggtc tttggacaag ggtccaaaca
     1681 tgaagtgctt tctggaggag cttttgttta gtccaacagg agtccaagga tgcagattag
     1741 agttttgtga gtttgctgcc cttgctgggc taggcatttc attgttgtaa ctgcctctga
     1801 gtaactgatg atcctataag taaccccaat aaactctctg gtttactaag cta
//
