LOCUS       NM_003676               2032 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens delta 4-desaturase, sphingolipid 1 (DEGS1), transcript
            variant 1, mRNA.
ACCESSION   NM_003676
VERSION     NM_003676.4
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 2032)
  AUTHORS   Dei Cas,M., Montavoci,L., Pasini,C., Caretti,A., Penati,S.,
            Martinelli,C., Gianelli,U., Casati,S., Nardecchia,F., Torella,A.,
            Brunetti-Pierri,N. and Trinchera,M.
  TITLE     Loss of function and reduced levels of sphingolipid desaturase
            DEGS1 variants are both relevant in disease mechanism
  JOURNAL   J Lipid Res 65 (3), 100517 (2024)
   PUBMED   38342436
  REMARK    GeneRIF: Loss of function and reduced levels of sphingolipid
            desaturase DEGS1 variants are both relevant in disease mechanism.
REFERENCE   2  (bases 1 to 2032)
  AUTHORS   Hulsmeier,A.J., Toelle,S.P., Bellstedt,P., Wentzel,C., Bahr,A.,
            Kolokotronis,K. and Hornemann,T.
  TITLE     The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1
            related hypomyelinating leukodystrophy
  JOURNAL   J Lipid Res 64 (12), 100464 (2023)
   PUBMED   37890668
  REMARK    GeneRIF: The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker
            for DEGS1 related hypomyelinating leukodystrophy.
REFERENCE   3  (bases 1 to 2032)
  AUTHORS   Planas-Serra,L., Launay,N., Goicoechea,L., Heron,B., Jou,C.,
            Julia-Palacios,N., Ruiz,M., Fourcade,S., Casasnovas,C., De La
            Torre,C., Gelot,A., Marsal,M., Loza-Alvarez,P., Garcia-Cazorla,A.,
            Fatemi,A., Ferrer,I., Portero-Otin,M., Area-Gomez,E. and Pujol,A.
  TITLE     Sphingolipid desaturase DEGS1 is essential for
            mitochondria-associated membrane integrity
  JOURNAL   J Clin Invest 133 (10), e162957 (2023)
   PUBMED   36951944
  REMARK    GeneRIF: Sphingolipid desaturase DEGS1 is essential for
            mitochondria-associated membrane integrity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2032)
  AUTHORS   Hayashi,Y., Matsuda,K., Tanigawa,K., Tanikawa,T., Maeda,K. and
            Tsuchiya,K.
  TITLE     Dihydroceramide Delta4-Desaturase 1 Is Not Involved in SARS-CoV-2
            Infection
  JOURNAL   Biol Pharm Bull 45 (10), 1559-1563 (2022)
   PUBMED   36184516
  REMARK    GeneRIF: Dihydroceramide Delta4-Desaturase 1 Is Not Involved in
            SARS-CoV-2 Infection.
REFERENCE   5  (bases 1 to 2032)
  AUTHORS   Spassieva,S.D., Rahmaniyan,M., Bielawski,J., Clarke,C.J.,
            Kraveka,J.M. and Obeid,L.M.
  TITLE     Cell density-dependent reduction of dihydroceramide desaturase
            activity in neuroblastoma cells
  JOURNAL   J Lipid Res 53 (5), 918-928 (2012)
   PUBMED   22377532
  REMARK    GeneRIF: a role of the sphingolipid pathway, dihydroceramides
            desaturase in particular, in confluence-induced growth arrest in
            neuroblastoma cells
REFERENCE   6  (bases 1 to 2032)
  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 2032)
  AUTHORS   Idkowiak-Baldys,J., Apraiz,A., Li,L., Rahmaniyan,M., Clarke,C.J.,
            Kraveka,J.M., Asumendi,A. and Hannun,Y.A.
  TITLE     Dihydroceramide desaturase activity is modulated by oxidative
            stress
  JOURNAL   Biochem J 427 (2), 265-274 (2010)
   PUBMED   20105137
  REMARK    GeneRIF: oxidative stress leads to potent inhibition of
            dihydroceramide desaturase resulting in significant elevation in
            dihydroceramide levels in vivo
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2032)
  AUTHORS   Kraveka,J.M., Li,L., Szulc,Z.M., Bielawski,J., Ogretmen,B.,
            Hannun,Y.A., Obeid,L.M. and Bielawska,A.
  TITLE     Involvement of dihydroceramide desaturase in cell cycle progression
            in human neuroblastoma cells
  JOURNAL   J Biol Chem 282 (23), 16718-16728 (2007)
   PUBMED   17283068
  REMARK    GeneRIF: partial loss of DEGS-1 inhibited cell growth, with cell
            cycle arrest at G(0)/G(1). This was accompanied by a significant
            decrease in the amount of phosphorylated retinoblastoma protein
REFERENCE   9  (bases 1 to 2032)
  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
  REMARK    GeneRIF: identification of sphingolipid delta 4-desaturase family
REFERENCE   10 (bases 1 to 2032)
  AUTHORS   Cadena,D.L., Kurten,R.C. and Gill,G.N.
  TITLE     The product of the MLD gene is a member of the membrane fatty acid
            desaturase family: overexpression of MLD inhibits EGF receptor
            biosynthesis
  JOURNAL   Biochemistry 36 (23), 6960-6967 (1997)
   PUBMED   9188692
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC000961.2 and AY423730.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003676.3.
            
            Summary: This gene encodes a member of the membrane fatty acid
            desaturase family which is responsible for inserting double bonds
            into specific positions in fatty acids. This protein contains three
            His-containing consensus motifs that are characteristic of a group
            of membrane fatty acid desaturases. It is predicted to be a
            multiple membrane-spanning protein localized to the endoplasmic
            reticulum. Overexpression of this gene inhibited biosynthesis of
            the EGF receptor, suggesting a possible role of a fatty acid
            desaturase in regulating biosynthetic processing of the EGF
            receptor. [provided by RefSeq, Mar 2010].
            
            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 :: BC000961.2, SRR3476690.245725.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323699.9/ ENSP00000316476.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1809              BC000961.2         15-1823
            1810-2032           AY423730.1         1790-2012
FEATURES             Location/Qualifiers
     source          1..2032
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.11"
     gene            1..2032
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /note="delta 4-desaturase, sphingolipid 1"
                     /db_xref="GeneID:8560"
                     /db_xref="HGNC:HGNC:13709"
                     /db_xref="MIM:615843"
     exon            1..179
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1069
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /EC_number="1.14.19.17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     membrane fatty acid (lipid) desaturase; sphingolipid delta
                     4 desaturase; migration-inducing gene 15 protein; membrane
                     lipid desaturase; cell migration-inducing gene 15 protein;
                     degenerative spermatocyte homolog 1, lipid desaturase;
                     sphingolipid delta(4)-desaturase 1; dihydroceramide
                     desaturase 1; degenerative spermatocyte homolog, lipid
                     desaturase; retinol isomerase"
                     /codon_start=1
                     /product="sphingolipid delta(4)-desaturase DES1 isoform 1"
                     /protein_id="NP_003667.1"
                     /db_xref="CCDS:CCDS1540.1"
                     /db_xref="GeneID:8560"
                     /db_xref="HGNC:HGNC:13709"
                     /db_xref="MIM:615843"
                     /translation="MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLI
                     WIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKA
                     MWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKF
                     IWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLL
                     GLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLV
                     RKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE"
     exon            180..922
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /inference="alignment:Splign:2.1.0"
     exon            923..2032
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1731..1736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /note="hexamer: AATAAA"
     polyA_site      1751
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
     regulatory      2000..2005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /note="hexamer: AATAAA"
     polyA_site      2032
                     /gene="DEGS1"
                     /gene_synonym="DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18;
                     MIG15; MLD"
                     /note="major polyA site"
ORIGIN      
        1 accacaccag ccggggagcc gccgccgccg ccgccacctc tgagcagccg gctgggagcg
       61 agagccgaca gctagtctgc aagccaccgc tgtcgccatg gggagccgcg tctcgcggga
      121 agacttcgag tgggtctaca ccgaccagcc gcacgccgac cggcgccggg agatcctggc
      181 aaagtatcca gagataaagt ccttgatgaa acctgatccc aatttgatat ggattataat
      241 tatgatggtt ctcacccagt tgggtgcatt ttacatagta aaagacttgg actggaaatg
      301 ggtcatattt ggggcctatg cgtttggcag ttgcattaac cactcaatga ctctggctat
      361 tcatgagatt gcccacaatg ctgcctttgg caactgcaaa gcaatgtgga atcgctggtt
      421 tggaatgttt gctaatcttc ctattgggat tccatattca atttccttta agaggtatca
      481 catggatcat catcggtacc ttggagctga tggcgtcgat gtagatattc ctaccgattt
      541 tgagggctgg ttcttctgta ccgctttcag aaagtttata tgggttattc ttcagcctct
      601 cttttatgcc tttcgacctc tgttcatcaa ccccaaacca attacgtatc tggaagttat
      661 caataccgtg gcacaggtca cttttgacat tttaatttat tactttttgg gaattaaatc
      721 cttagtctac atgttggcag catctttact tggcctgggt ttgcacccaa tttctggaca
      781 ttttatagct gagcattaca tgttcttaaa gggtcatgaa acttactcat attatgggcc
      841 tctgaattta cttaccttca atgtgggtta tcataatgaa catcatgatt tccccaacat
      901 tcctggaaaa agtcttccac tggtgaggaa aatagcagct gaatactatg acaacctccc
      961 tcactacaat tcctggataa aagtactgta tgattttgtg atggatgata caataagtcc
     1021 ctactcaaga atgaagaggc accaaaaagg agagatggtg ctggagtaaa tatcattagt
     1081 gccaaaggga ttcttctcca aaactttaga tgataaaatg gaatttttgc attattaaac
     1141 ttgagaccag tgatgctcag aagctcccct ggcacaattt cagagtaaga gctcggtgat
     1201 accaagaagt gaatctggct tttaaacagt cagcctgact ctgtactgct cagtttcact
     1261 cacaggaaac ttgtgacttg tgtattatcg tcattgagga tgtttcactc atgtctgtca
     1321 ttttataagc atatcattta aaaagcttct aaaaagctat ttcgccaggc acggtggctc
     1381 atgcctataa tcccagcact ttgggaggcc aaggtgggtg gatcacctga ggtcaggagt
     1441 tcgagaccag cctggccaac acggtgaaac cccatctcta ctaaaaatgc aaaaattagc
     1501 cgggcgtggc ggcacatgcc tgtaatccca gctacatggg aggctgaggt gggagaattg
     1561 cttgaaccca ggaggcggag gcagaggctg cagtgaccca agattgtgcc actgcactcc
     1621 accctgggca acagagcaag accccatctc aaaaataaat aaatatatat aaaaaataaa
     1681 aagctatttc tagtttattt cactataaag ttttgcttta ttaaaaagct aataaacagc
     1741 tattaatcac agtgtattag tatttgttac atttttgtat ttcactatct ttatactata
     1801 taatatggta acttgggtac cgggggaact ttaaaatttc atctcaaaaa taatttttaa
     1861 aaagcctgag gtatgatata gcataaaaga ttgagatgaa aatatatttc cctgtaagct
     1921 gaattactca tttaaaaatt ttaacttcta tatgggaccc gaattagaca ctgctgaatc
     1981 ctgtacagcc ttactcataa ataaagtact tactgaattt ccaccattca aa
//
