LOCUS       NM_001382498            2995 bp    mRNA    linear   ROD 16-FEB-2025
DEFINITION  Mus musculus 7-dehydrocholesterol reductase (Dhcr7), transcript
            variant 2, mRNA.
ACCESSION   NM_001382498 XM_006508479 XM_036152635
VERSION     NM_001382498.2
KEYWORDS    RefSeq.
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 2995)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2995)
  AUTHORS   Tomita,H., Hines,K.M., Herron,J.M., Li,A., Baggett,D.W. and Xu,L.
  TITLE     7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in
            Smith-Lemli-Opitz syndrome
  JOURNAL   Elife 11, e67141 (2022)
   PUBMED   36111785
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2995)
  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   4  (bases 1 to 2995)
  AUTHORS   Findakly,S., Daggubati,V., Garcia,G., LaStella,S.A., Choudhury,A.,
            Tran,C., Li,A., Tong,P., Garcia,J.Q., Puri,N., Reiter,J.F., Xu,L.
            and Raleigh,D.R.
  TITLE     Sterol and oxysterol synthases near the ciliary base activate the
            Hedgehog pathway
  JOURNAL   J Cell Biol 220 (1) (2021)
   PUBMED   33284321
  REMARK    GeneRIF: Sterol and oxysterol synthases near the ciliary base
            activate the Hedgehog pathway.
REFERENCE   5  (bases 1 to 2995)
  AUTHORS   Kanuri,B., Fong,V., Ponny,S.R., Tallman,K.A., Rao,S.R., Porter,N.,
            Fliesler,S.J. and Patel,S.B.
  TITLE     Generation and validation of a conditional knockout mouse model for
            the study of the Smith-Lemli-Opitz syndrome
  JOURNAL   J Lipid Res 62, 100002 (2021)
   PUBMED   33410752
REFERENCE   6  (bases 1 to 2995)
  AUTHORS   Hogenboom,S., Romeijn,G.J., Houten,S.M., Baes,M., Wanders,R.J. and
            Waterham,H.R.
  TITLE     Absence of functional peroxisomes does not lead to deficiency of
            enzymes involved in cholesterol biosynthesis
  JOURNAL   J Lipid Res 43 (1), 90-98 (2002)
   PUBMED   11792727
REFERENCE   7  (bases 1 to 2995)
  AUTHORS   Nwokoro,N.A., Wassif,C.A. and Porter,F.D.
  TITLE     Genetic disorders of cholesterol biosynthesis in mice and humans
  JOURNAL   Mol Genet Metab 74 (1-2), 105-119 (2001)
   PUBMED   11592808
  REMARK    Review article
REFERENCE   8  (bases 1 to 2995)
  AUTHORS   Fitzky,B.U., Moebius,F.F., Asaoka,H., Waage-Baudet,H., Xu,L.,
            Xu,G., Maeda,N., Kluckman,K., Hiller,S., Yu,H., Batta,A.K.,
            Shefer,S., Chen,T., Salen,G., Sulik,K., Simoni,R.D., Ness,G.C.,
            Glossmann,H., Patel,S.B. and Tint,G.S.
  TITLE     7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase
            suppresses sterol biosynthesis in a mouse model of
            Smith-Lemli-Opitz/RSH syndrome
  JOURNAL   J Clin Invest 108 (6), 905-915 (2001)
   PUBMED   11560960
REFERENCE   9  (bases 1 to 2995)
  AUTHORS   Wassif,C.A., Zhu,P., Kratz,L., Krakowiak,P.A., Battaile,K.P.,
            Weight,F.F., Grinberg,A., Steiner,R.D., Nwokoro,N.A., Kelley,R.I.,
            Stewart,R.R. and Porter,F.D.
  TITLE     Biochemical, phenotypic and neurophysiological characterization of
            a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome
  JOURNAL   Hum Mol Genet 10 (6), 555-564 (2001)
   PUBMED   11230174
REFERENCE   10 (bases 1 to 2995)
  AUTHORS   Fitzky,B.U., Witsch-Baumgartner,M., Erdel,M., Lee,J.N., Paik,Y.K.,
            Glossmann,H., Utermann,G. and Moebius,F.F.
  TITLE     Mutations in the Delta7-sterol reductase gene in patients with the
            Smith-Lemli-Opitz syndrome
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8181-8186 (1998)
   PUBMED   9653161
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC133502.4.
            
            On or before Sep 28, 2022 this sequence version replaced
            XM_036152635.1, NM_001382498.1.
            
            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##
            CDS exon combination :: SRR7345562.4247786.1, SRR13422600.1520804.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMN00849377, SAMN00849378 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-419               AC133502.4         124139-124557       c
            420-680             AC133502.4         117280-117540       c
            681-772             AC133502.4         110950-111041       c
            773-995             AC133502.4         109695-109917       c
            996-1086            AC133502.4         107156-107246       c
            1087-1300           AC133502.4         106308-106521       c
            1301-1505           AC133502.4         104361-104565       c
            1506-1637           AC133502.4         102107-102238       c
            1638-2995           AC133502.4         99269-100626        c
FEATURES             Location/Qualifiers
     source          1..2995
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 88.33 cM"
     gene            1..2995
                     /gene="Dhcr7"
                     /note="7-dehydrocholesterol reductase"
                     /db_xref="GeneID:13360"
                     /db_xref="MGI:MGI:1298378"
     exon            1..419
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     exon            420..680
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     exon            681..772
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     CDS             687..2102
                     /gene="Dhcr7"
                     /EC_number="1.3.1.21"
                     /EC_number="3.3.2.11"
                     /note="isoform 1 is encoded by transcript variant 2; 7-DHC
                     reductase; sterol Delta(7)-reductase;
                     cholesterol-5,6-epoxide hydrolase subunit DHCR7"
                     /codon_start=1
                     /product="7-dehydrocholesterol reductase isoform 1"
                     /protein_id="NP_001369427.1"
                     /db_xref="GeneID:13360"
                     /db_xref="MGI:MGI:1298378"
                     /translation="MASKSQHNAPKVKSPNGKAGSQGQWGRAWEVDWFSLASIIFLLL
                     FAPFIVYYFIMACDQYSCSLTAPALDIATGHASLADIWAKTPPVTAKAAQLYALWVSF
                     QVLLYSWLPDFCHRFLPGYVGGVQEGAITPAGVVNKYEVNGLQAWLITHILWFVNAYL
                     LSWFSPTIIFDNWIPLLWCANILGYAVSTFAMIKGYLFPTSAEDCKFTGNFFYNYMMG
                     IEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQQELYGHVTNSMILVNVLQAIY
                     VLDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPNAL
                     GILLLGLVGYYIFRMTNHQKDLFRRTDGRCLIWGKKPKAIECSYTSADGLKHHSKLLV
                     SGFWGVARHFNYTGDLMGSLAYCLACGGGHLLPYFYIIYMTILLTHRCLRDEHRCANK
                     YGRDWERYTAAVPYRLLPGIF"
     exon            773..995
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1086
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1300
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1505
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     exon            1506..1637
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..2995
                     /gene="Dhcr7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2973..2978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dhcr7"
                     /note="hexamer: ATTAAA"
     polyA_site      2995
                     /gene="Dhcr7"
                     /note="major polyA site"
ORIGIN      
        1 agagcgtcct ggatcatttc ctttgccatc tgagcgactt ttgataggtc atgaaaggct
       61 tgttttctgc caccaaaagt aatgtcaggt ttgctttctg tcgctgtgat gaacacgtgg
      121 caaaaagcag ctggggagga aaagggctca cttcacctta tagctcatag tctgtaatga
      181 agggaagttg aggcaggaac tgaagcagag accaaagagg acttctgccc actggcttgc
      241 ttgaaggctt actcagcctg tttttttttt ttttttgcac cactgaggac caccagccag
      301 gggtagcgcc acccacagtg ggccaaggcc gtcacatcaa tcatcggtta tgaaaatgct
      361 ccacagacaa gcacaggcca gtctgatgga agggatctct caaagtttcc acttcgcagg
      421 acgcagctcg cgaaatccac ttccgattgg tcgtctgtga cctcacatca tctggggcgg
      481 agcttcaggc aggcacttag aacactgctg gagagcgtgg atcagccgcc tggattccgc
      541 actcaggtga gaattcgtgt gcacggacca ggccagagtg caggagaagg acggtgcgca
      601 cagatgtgtg tgtgagtggg ggcggggggg gggaagcgtc gagagtgcag aagagtggac
      661 cgtatgtata aaagaagaga ggcctgatgg cttcgaaatc ccagcacaac gctcccaaag
      721 tcaagagtcc caacggcaag gctggatctc aaggacaatg gggccgtgcc tgggaagtgg
      781 actggttctc cctggccagc atcattttcc tgctgctctt cgctccattc attgtgtact
      841 acttcatcat ggcatgtgac cagtacagct gctccctgac tgcccccgca ttggatatag
      901 ctacaggcca tgctagtctg gcagacattt gggccaagac accacctgtg acagctaaag
      961 ctgcccaact gtatgccttg tgggtcagct tccaggtgct gctttattcc tggcttcctg
     1021 acttctgcca cagatttctg ccaggttatg tgggaggcgt ccaagaaggt gccattactc
     1081 cagcaggggt tgtaaacaag tatgaggtga atgggctgca agcctggctc attacccaca
     1141 tcctctggtt tgtgaacgct tacctcttat cctggttctc ccccaccatc atctttgaca
     1201 actggatccc cttgctatgg tgtgccaaca tcctgggcta tgccgtgtcc acgttcgcaa
     1261 tgatcaaggg ctacctgttc cccaccagtg ccgaagactg caaattcaca ggcaatttct
     1321 tctacaacta tatgatggga attgagttca acccccgcat cgggaagtgg tttgacttca
     1381 agctgttctt caatggacga ccagggattg tagcctggac cctcattaac ctgtccttcg
     1441 ctgccaagca gcaggagctt tatggccatg tgaccaactc catgattttg gtcaatgtct
     1501 tgcaggccat ctacgtgtta gacttcttct ggaatgaaac ctggtatctg aagaccatcg
     1561 acatctgcca tgaccacttt gggtggtacc taggctgggg agattgtgtg tggctgccct
     1621 acctctacac actgcagggc ctgtacttgg tgtaccaccc tgtgcagctc tccaccccca
     1681 atgccttggg catcctgctg cttggcctcg tgggttacta tatcttccga atgaccaacc
     1741 atcagaagga cctgttccgc aggacagatg ggcgctgcct catctggggc aagaagccca
     1801 aggccattga gtgctcctac acatcagctg atgggctgaa gcaccacagc aagctgttgg
     1861 tctcaggctt ctggggtgtg gcccgccact tcaactatac tggtgacctg atgggcagcc
     1921 ttgcctactg cctggcttgt ggcggtggcc acctcctccc ctacttttac atcatctata
     1981 tgactatcct gctcacccac cgctgcctcc gtgatgaaca ccgctgtgcc aacaagtatg
     2041 gccgtgattg ggagcgctac acagccgctg tgccctaccg cctgctgcct ggaatcttct
     2101 gagggcagcc ttgggaagca tagagaggtg tcattgagtg tgtggagttg gatgcatggg
     2161 ggctggcatc tggctctccc ctgcaaactg cctcctcagt ttgctcatct ggagaatgga
     2221 gagcctggtg tcccacagtg gctgctgaca gctggagagc tgaattcaca cggatacccc
     2281 agcagaatgg cttgttctct ctgttcagca tcctgatagc agaggccctt tcatgtctct
     2341 ctgcttggag cccaccatct attctgtcta gataacttag gcttatcaga tgtctccgat
     2401 gattgggcca tcctggtaaa ccggagacca tgcaggattt aaagagtttg gcaatgccat
     2461 cacccccccg ccgcaccccc ccccccccat cctggtgagc taggctccat ttttgtctgt
     2521 agcatgtgca gtgttaattg atcagccaag ggttcagagg ccattgaaga agggaggctt
     2581 ttttgtttag gttcttgatt ttttgtttct ttgtttgttt ttgtttttac cccaggaatg
     2641 gcagacagtg gactggaata ttcagggggc actgcccact gcacagtccc tggctaactt
     2701 gataaacagg gttcccagga ctccccaagt gcccacctag cagctcatcc acctgccctc
     2761 ttctggaagg tgcttcttgt ttacccctga gacttggctc ggacaaccca gaacgtatca
     2821 ccagtcagtg gccttagcca caccttcccc aactggagac ccagtgttgg ggaaggaaca
     2881 cattctcatt agggacactg cccccccccc caaactcagg gtattctgta aaactagata
     2941 ggcttatctt agccttgcag gcagttcttt gtattaaatc tgctttgtta aatga
//
