LOCUS       NM_172769               2249 bp    mRNA    linear   ROD 24-DEC-2024
DEFINITION  Mus musculus sterol-C5-desaturase (Sc5d), mRNA.
ACCESSION   NM_172769
VERSION     NM_172769.2
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 2249)
  AUTHORS   Iwaya,C., Suzuki,A. and Iwata,J.
  TITLE     Loss of Sc5d results in micrognathia due to a failure in osteoblast
            differentiation
  JOURNAL   J Adv Res 65, 153-165 (2024)
   PUBMED   38086515
  REMARK    GeneRIF: Loss of Sc5d results in micrognathia due to a failure in
            osteoblast differentiation.
REFERENCE   2  (bases 1 to 2249)
  AUTHORS   Gamart,J., Barozzi,I., Laurent,F., Reinhardt,R., Martins,L.R.,
            Oberholzer,T., Visel,A., Zeller,R. and Zuniga,A.
  TITLE     SMAD4 target genes are part of a transcriptional network that
            integrates the response to BMP and SHH signaling during early limb
            bud patterning
  JOURNAL   Development 148 (23) (2021)
   PUBMED   34822715
REFERENCE   3  (bases 1 to 2249)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2249)
  AUTHORS   Irving,A.A., Marling,S.J., Seeman,J., Plum,L.A. and DeLuca,H.F.
  TITLE     UV light suppression of EAE (a mouse model of multiple sclerosis)
            is independent of vitamin D and its receptor
  JOURNAL   Proc Natl Acad Sci U S A 116 (45), 22552-22555 (2019)
   PUBMED   31636184
REFERENCE   5  (bases 1 to 2249)
  AUTHORS   Makarova,A., Wang,G., Dolorito,J.A., Kc,S., Libove,E. and
            Epstein,E.H. Jr.
  TITLE     Vitamin D3 Produced by Skin Exposure to UVR Inhibits Murine Basal
            Cell Carcinoma Carcinogenesis
  JOURNAL   J Invest Dermatol 137 (12), 2613-2619 (2017)
   PUBMED   28774592
REFERENCE   6  (bases 1 to 2249)
  AUTHORS   Gondre-Lewis,M.C., Petrache,H.I., Wassif,C.A., Harries,D.,
            Parsegian,A., Porter,F.D. and Loh,Y.P.
  TITLE     Abnormal sterols in cholesterol-deficiency diseases cause secretory
            granule malformation and decreased membrane curvature
  JOURNAL   J Cell Sci 119 (Pt 9), 1876-1885 (2006)
   PUBMED   16636072
REFERENCE   7  (bases 1 to 2249)
  AUTHORS   Mulligan,M.K., Ponomarev,I., Hitzemann,R.J., Belknap,J.K.,
            Tabakoff,B., Harris,R.A., Crabbe,J.C., Blednov,Y.A., Grahame,N.J.,
            Phillips,T.J., Finn,D.A., Hoffman,P.L., Iyer,V.R., Koob,G.F. and
            Bergeson,S.E.
  TITLE     Toward understanding the genetics of alcohol drinking through
            transcriptome meta-analysis
  JOURNAL   Proc Natl Acad Sci U S A 103 (16), 6368-6373 (2006)
   PUBMED   16618939
REFERENCE   8  (bases 1 to 2249)
  AUTHORS   Hitzemann,R., Reed,C., Malmanger,B., Lawler,M., Hitzemann,B.,
            Cunningham,B., McWeeney,S., Belknap,J., Harrington,C., Buck,K.,
            Phillips,T. and Crabbe,J.
  TITLE     On the integration of alcohol-related quantitative trait loci and
            gene expression analyses
  JOURNAL   Alcohol Clin Exp Res 28 (10), 1437-1448 (2004)
   PUBMED   15597075
  REMARK    Erratum:[Alcohol Clin Exp Res. 2004 Dec;28(12):1930]
REFERENCE   9  (bases 1 to 2249)
  AUTHORS   Krakowiak,P.A., Wassif,C.A., Kratz,L., Cozma,D., Kovarova,M.,
            Harris,G., Grinberg,A., Yang,Y., Hunter,A.G., Tsokos,M.,
            Kelley,R.I. and Porter,F.D.
  TITLE     Lathosterolosis: an inborn error of human and murine cholesterol
            synthesis due to lathosterol 5-desaturase deficiency
  JOURNAL   Hum Mol Genet 12 (13), 1631-1641 (2003)
   PUBMED   12812989
REFERENCE   10 (bases 1 to 2249)
  AUTHORS   Nishi,S., Nishino,H. and Ishibashi,T.
  TITLE     cDNA cloning of the mammalian sterol C5-desaturase and the
            expression in yeast mutant
  JOURNAL   Biochim Biophys Acta 1490 (1-2), 106-108 (2000)
   PUBMED   10786622
  REMARK    Erratum:[Biochim Biophys Acta. 2000 Nov 15;1494(1-2):211]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY144795.1 and AK077670.1.
            
            On Oct 24, 2009 this sequence version replaced NM_172769.1.
            
            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 :: AK077670.1, SRR1660817.112655.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386, SAMN01164131
                                           [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
            1-44                BY144795.1         11-54
            45-2249             AK077670.1         3-2207
FEATURES             Location/Qualifiers
     source          1..2249
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 23.57 cM"
     gene            1..2249
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /note="sterol-C5-desaturase"
                     /db_xref="GeneID:235293"
                     /db_xref="MGI:MGI:1353611"
     exon            1..95
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /inference="alignment:Splign:2.1.0"
     exon            96..176
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /inference="alignment:Splign:2.1.0"
     exon            177..394
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..1084
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /EC_number="1.14.19.20"
                     /note="C-5 sterol desaturase; lathosterol 5-desaturase;
                     delta(7)-sterol 5-desaturase; delta(7)-sterol
                     C5(6)-desaturase; sterol-C5-desaturase (fungal ERG3,
                     delta-5-desaturase) homolog"
                     /codon_start=1
                     /product="lathosterol oxidase"
                     /protein_id="NP_766357.1"
                     /db_xref="CCDS:CCDS23086.1"
                     /db_xref="GeneID:235293"
                     /db_xref="MGI:MGI:1353611"
                     /translation="MDLVLSAADYYFFTPYVYPATWPEDNIIRQTISLLIVTNLGAYI
                     LYFFCATLSYYFVYDHSLMKHPQFLKNQVSREIVFTVKSLPWISIPTVSLFLLELRGY
                     SKLYDDIGDFPNGWIHLMVSVVSFLFFTDMLIYWIHRGLHHRLVYKRIHKPHHIWKIP
                     TPFASHAFHPVDGFLQSLPYHIYPFVFPLHKVVYLGLYVLVNVWTISIHDGDFRVPQI
                     LRPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKHPSSFEGKGPHSYVKNMTEKE
                     SNSFAENGCKGKKVGNGEFTKNK"
     exon            395..527
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /inference="alignment:Splign:2.1.0"
     exon            528..628
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /inference="alignment:Splign:2.1.0"
     exon            629..2249
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1660..1665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /note="hexamer: AATAAA"
     regulatory      1672..1677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /note="hexamer: AATAAA"
     polyA_site      1682
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /note="major polyA site"
     polyA_site      1693
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /note="major polyA site"
     regulatory      2154..2159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
                     /note="hexamer: AACAAA"
     polyA_site      2171
                     /gene="Sc5d"
                     /gene_synonym="A830037K02; A830073K23Rik; Sc5dl"
ORIGIN      
        1 cggggctctg ctgagcgggc ggtgtctcgg gcgctctggc tcgtactctc cgctggctgt
       61 aaagccgcgg ctgacggagc tgctgggcct ggcaggttca gtcctcgccc ttatctgatg
      121 gtagatcctg cctccaagtg acagacacaa ccattgttta ttgggtcaca taccaggggc
      181 tgcgatggac ctggttctca gtgccgccga ttactacttc ttcactccgt atgtatatcc
      241 agccacgtgg cccgaggaca acatcatccg acaaactatt agcctcctga ttgtcacaaa
      301 cctgggtgct tacattctct acttcttctg tgcaaccctc agctattatt ttgtctatga
      361 tcattcctta atgaaacacc cacagttttt aaagaaccaa gtctcgcgtg agatcgtgtt
      421 cactgtcaag tctttgcctt ggatcagcat ccccaccgtc tcactgttcc tgctggagct
      481 gaggggttac agcaaactct acgatgacat cggagacttt ccaaatggct ggattcatct
      541 catggttagc gtcgtatcct tcctcttttt cacagacatg ttgatctact ggattcatag
      601 gggcctgcac cacagactgg tctacaagcg catacataaa ccacatcata tttggaagat
      661 ccccacgccg tttgcaagtc atgcttttca ccctgtggac ggcttccttc agagtctgcc
      721 ttaccatata tacccctttg tctttccact gcacaaggtg gtctacttag gtttatatgt
      781 cttggttaat gtctggacaa tttctattca tgatggtgat tttcgggttc cccagatctt
      841 aaggccattt attaacgggt cagctcacca cacagaccac cacatgttct ttgactataa
      901 ctatggacag tatttcacat tgtgggatag aattggaggc tcttttaaac atccttcctc
      961 ttttgaaggg aaaggaccac atagttacgt gaagaacatg acagaaaaag aatctaacag
     1021 ctttgcagaa aacggctgta aaggcaaaaa agtaggcaat ggagagttta caaagaataa
     1081 gtagattatt gcccagttat taactatttt aaataagaaa ataatctaca cagtcaagat
     1141 acctagcaaa taagtggtgc cattggaatg tcagcattgc ttgagtgtca tgctgaggga
     1201 tggtcctgac agtaaacagc gggaagacac cgggagcatt gtaatcgctt ggttaattgt
     1261 ccgacattgg tccaggaaca acttgtcttt tcagccggct gacctgcagc ctgtacagct
     1321 ctgaagcatc tttaaatacg atagaaaata agctactcaa gaagctggtc tgtgtccttt
     1381 tgccttagtc catgcatact cattaaggaa aaaaagtacc attgtgctaa acgctactga
     1441 gactaaccag gaaaccctaa cgatgaagat ggtcctgtcc cgggagcggc tggctccacc
     1501 gaagtgctgg ggagttgcag gacttcattc aaataggaat atcagtccaa gcaagctgat
     1561 acgtgagtgg cagtggatag gatttgctta atggctgatg taataagatt gtacttccta
     1621 tacagaggca ccttactctc tggggcatta tcagatttta ataaatgaat aaataaatgg
     1681 tatttttttt aaatgtcagc tcttccataa ttcagtctag ataggagatt atttaactga
     1741 agatcttggt gagtgtcatt tttttttctt ttttcttttt ttggtttttc aagacagggt
     1801 ttctctgtgt agccctggct gtcctggaac tctgtagact gggctggcct cgaactcaga
     1861 gatctgcctg cccttgctgg gatcagaggt gtgcaccacc actgcccagc ttgaagtgtg
     1921 tcatttaaaa ccactgttta ataaccctac agacatgaat ctggataatg ctaggtataa
     1981 acttgtggca cccagtgaca tcttttttta atcaagtgga cacacttttg atgtatttct
     2041 cagttacaaa gctgactttt ttttaatgaa gggaataatt gccaagtact taaatctacc
     2101 tgaggtacac ttttaaacct catcttctat ttcttccctc tcttctgcaa atgaacaaaa
     2161 caaaacataa aggtggttgt tgtaagctaa gtatatttgt ggagggagaa gatatgtttt
     2221 tataaagtta ttctaatggc tatttgtgc
//
