LOCUS       NM_001360               2627 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript
            variant 1, mRNA.
ACCESSION   NM_001360
VERSION     NM_001360.3
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 2627)
  AUTHORS   Yamada,N., Karasawa,T., Ito,J., Yamamuro,D., Morimoto,K.,
            Nakamura,T., Komada,T., Baatarjav,C., Saimoto,Y., Jinnouchi,Y.,
            Watanabe,K., Miura,K., Yahagi,N., Nakagawa,K., Matsumura,T.,
            Yamada,K.I., Ishibashi,S., Sata,N., Conrad,M. and Takahashi,M.
  TITLE     Inhibition of 7-dehydrocholesterol reductase prevents hepatic
            ferroptosis under an active state of sterol synthesis
  JOURNAL   Nat Commun 15 (1), 2195 (2024)
   PUBMED   38472233
  REMARK    GeneRIF: Inhibition of 7-dehydrocholesterol reductase prevents
            hepatic ferroptosis under an active state of sterol synthesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2627)
  AUTHORS   Mei,X., Xiong,J., Liu,J., Huang,A., Zhu,D., Huang,Y. and Wang,H.
  TITLE     DHCR7 promotes lymph node metastasis in cervical cancer through
            cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT
            axis and VEGF-C secretion
  JOURNAL   Cancer Lett 584, 216609 (2024)
   PUBMED   38211648
  REMARK    GeneRIF: DHCR7 promotes lymph node metastasis in cervical cancer
            through cholesterol reprogramming-mediated activation of the
            KANK4/PI3K/AKT axis and VEGF-C secretion.
REFERENCE   3  (bases 1 to 2627)
  AUTHORS   Li,Y., Ran,Q., Duan,Q., Jin,J., Wang,Y., Yu,L., Wang,C., Zhu,Z.,
            Chen,X., Weng,L., Li,Z., Wang,J., Wu,Q., Wang,H., Tian,H., Song,S.,
            Shan,Z., Zhai,Q., Qin,H., Chen,S., Fang,L., Yin,H., Zhou,H.,
            Jiang,X. and Wang,P.
  TITLE     7-Dehydrocholesterol dictates ferroptosis sensitivity
  JOURNAL   Nature 626 (7998), 411-418 (2024)
   PUBMED   38297130
REFERENCE   4  (bases 1 to 2627)
  AUTHORS   Freitas,F.P., Alborzinia,H., Dos Santos,A.F., Nepachalovich,P.,
            Pedrera,L., Zilka,O., Inague,A., Klein,C., Aroua,N., Kaushal,K.,
            Kast,B., Lorenz,S.M., Kunz,V., Nehring,H., Xavier da Silva,T.N.,
            Chen,Z., Atici,S., Doll,S.G., Schaefer,E.L., Ekpo,I., Schmitz,W.,
            Horling,A., Imming,P., Miyamoto,S., Wehman,A.M.,
            Genaro-Mattos,T.C., Mirnics,K., Kumar,L., Klein-Seetharaman,J.,
            Meierjohann,S., Weigand,I., Kroiss,M., Bornkamm,G.W., Gomes,F.,
            Netto,L.E.S., Sathian,M.B., Konrad,D.B., Covey,D.F., Michalke,B.,
            Bommert,K., Bargou,R.C., Garcia-Saez,A., Pratt,D.A., Fedorova,M.,
            Trumpp,A., Conrad,M. and Friedmann Angeli,J.P.
  TITLE     7-Dehydrocholesterol is an endogenous suppressor of ferroptosis
  JOURNAL   Nature 626 (7998), 401-410 (2024)
   PUBMED   38297129
REFERENCE   5  (bases 1 to 2627)
  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
REFERENCE   6  (bases 1 to 2627)
  AUTHORS   Wassif,C.A., Maslen,C., Kachilele-Linjewile,S., Lin,D., Linck,L.M.,
            Connor,W.E., Steiner,R.D. and Porter,F.D.
  TITLE     Mutations in the human sterol delta7-reductase gene at 11q12-13
            cause Smith-Lemli-Opitz syndrome
  JOURNAL   Am J Hum Genet 63 (1), 55-62 (1998)
   PUBMED   9634533
REFERENCE   7  (bases 1 to 2627)
  AUTHORS   Moebius,F.F., Fitzky,B.U., Lee,J.N., Paik,Y.K. and Glossmann,H.
  TITLE     Molecular cloning and expression of the human delta7-sterol
            reductase
  JOURNAL   Proc Natl Acad Sci U S A 95 (4), 1899-1902 (1998)
   PUBMED   9465114
REFERENCE   8  (bases 1 to 2627)
  AUTHORS   Shefer,S., Salen,G., Batta,A.K., Honda,A., Tint,G.S., Irons,M.,
            Elias,E.R., Chen,T.C. and Holick,M.F.
  TITLE     Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity
            in liver microsomes from Smith-Lemli-Opitz homozygotes
  JOURNAL   J Clin Invest 96 (4), 1779-1785 (1995)
   PUBMED   7560069
REFERENCE   9  (bases 1 to 2627)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   10 (bases 1 to 2627)
  AUTHORS   Nowaczyk,M.J.M. and Wassif,C.A.
  TITLE     Smith-Lemli-Opitz Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301322
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA502590.1, BU848891.1,
            AF062481.1 and AP002387.4.
            
            On Dec 4, 2019 this sequence version replaced NM_001360.2.
            
            Summary: This gene encodes an enzyme that removes the C(7-8) double
            bond in the B ring of sterols and catalyzes the conversion of
            7-dehydrocholesterol to cholesterol. This gene is ubiquitously
            expressed and its transmembrane protein localizes to the
            endoplasmic reticulum membrane and nuclear outer membrane.
            Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a
            syndrome that is metabolically characterized by reduced serum
            cholesterol levels and elevated serum 7-dehydrocholesterol levels
            and phenotypically characterized by cognitive disability, facial
            dysmorphism, syndactyly of second and third toes, and
            holoprosencephaly in severe cases to minimal physical abnormalities
            and near-normal intelligence in mild cases. Alternative splicing
            results in multiple transcript variants that encode the same
            protein.[provided by RefSeq, Aug 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: AK289497.1, AF034544.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355527.8/ ENSP00000347717.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-441               DA502590.1         39-479
            442-873             BU848891.1         364-795
            874-2020            AF062481.1         602-1748
            2021-2627           AP002387.4         56509-57115         c
FEATURES             Location/Qualifiers
     source          1..2627
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..2627
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /note="7-dehydrocholesterol reductase"
                     /db_xref="GeneID:1717"
                     /db_xref="HGNC:HGNC:2860"
                     /db_xref="MIM:602858"
     exon            1..104
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     exon            105..229
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     exon            230..333
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..1663
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /EC_number="1.3.1.21"
                     /EC_number="3.3.2.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sterol delta-7-reductase; delta-7-dehydrocholesterol
                     reductase; 7-DHC reductase; putative sterol reductase
                     SR-2; delta7-sterol reductase; cholesterol-5,6-epoxide
                     hydrolase subunit DHCR7"
                     /codon_start=1
                     /product="7-dehydrocholesterol reductase isoform 1"
                     /protein_id="NP_001351.2"
                     /db_xref="CCDS:CCDS8200.1"
                     /db_xref="GeneID:1717"
                     /db_xref="HGNC:HGNC:2860"
                     /db_xref="MIM:602858"
                     /translation="MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVI
                     FLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTL
                     WVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFA
                     NAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYN
                     YMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVL
                     QAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLST
                     PHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHS
                     KLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHR
                     CASKYGRDWERYTAAVPYRLLPGIF"
     exon            334..556
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     exon            557..647
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     exon            648..861
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     exon            862..1066
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1198
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..2627
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2061..2066
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /note="hexamer: AATAAA"
     polyA_site      2079
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
     regulatory      2604..2609
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /note="hexamer: ATTAAA"
     polyA_site      2627
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /note="major polyA site"
ORIGIN      
        1 gcgggtgact ccgacccctg gctagagggt aggcggcgtg gagcagcgcg cgcaagcgag
       61 gccaggggaa ggtgggcgca ggtgaggggc cgaggtgtgc gcaggacttt agccggttga
      121 gaaggatcaa gcaggcattt ggagcacagg tgtctagaaa cttttaaggg gccggttcaa
      181 gaaggaaaag ttcccttctg ctgtgaaact atttggcaag aggctggagg gcccaatggc
      241 tgcaaaatcg caacccaaca ttcccaaagc caagagtcta gatggcgtca ccaatgacag
      301 aaccgcatct caagggcagt ggggccgtgc ctgggaggtg gactggtttt cactggcgag
      361 cgtcatcttc ctactgctgt tcgccccctt catcgtctac tacttcatca tggcttgtga
      421 ccagtacagc tgcgccctga ctggccctgt ggtggacatc gtcaccggac atgctcggct
      481 ctcggacatc tgggccaaga ctccacctat aacgaggaaa gccgcccagc tctatacctt
      541 gtgggtcacc ttccaggtgc ttctgtacac gtctctccct gacttctgcc ataagtttct
      601 acccggctac gtaggaggca tccaggaggg ggccgtgact cctgcagggg ttgtgaacaa
      661 gtatcagatc aatggcctgc aagcctggct cctcacgcac ctgctctggt ttgcaaacgc
      721 tcatctcctg tcctggttct cgcccaccat catcttcgac aactggatcc cactgctgtg
      781 gtgcgccaac atccttggct atgccgtctc caccttcgcc atggtcaagg gctacttctt
      841 ccccaccagc gccagagact gcaaattcac aggcaatttc ttttacaact acatgatggg
      901 catcgagttt aaccctcgga tcgggaagtg gtttgacttc aagctgttct tcaatgggcg
      961 ccccgggatc gtcgcctgga ccctcatcaa cctgtccttc gcagcgaagc agcgggagct
     1021 ccacagccat gtgaccaatg ccatggtcct ggtcaacgtc ctgcaggcca tctacgtgat
     1081 tgacttcttc tggaacgaaa cctggtacct gaagaccatt gacatctgcc atgaccactt
     1141 cgggtggtac ctgggctggg gcgactgtgt ctggctgcct tatctttaca cgctgcaggg
     1201 tctgtacttg gtgtaccacc ccgtgcagct gtccaccccg cacgccgtgg gcgtcctgct
     1261 gctgggcctg gtgggctact acatcttccg ggtggccaac caccagaagg acctgttccg
     1321 ccgcacggat gggcgctgcc tcatctgggg caggaagccc aaggtcatcg agtgctccta
     1381 cacatccgcc gatgggcaga ggcaccacag caagctgctg gtgtcgggct tctggggcgt
     1441 ggcccgccac ttcaactacg tcggcgacct gatgggcagc ctggcctact gcctggcctg
     1501 tggcggcggc cacctgctgc cctacttcta catcatctac atggccatcc tgctgaccca
     1561 ccgctgcctc cgggacgagc accgctgcgc cagcaagtac ggccgggact gggagcgcta
     1621 caccgccgca gtgccttacc gcctgctgcc tggaatcttc taagggcacg ccctagggag
     1681 aagccctgtg gggctgtcaa gagcgtgttc tgccaggtcc atgggggctg gcatcccagc
     1741 tccaactcga ggagcctcag tttcctcatc tgtaaactgg agagagccca gcacttggca
     1801 ggtgtccagt acctaatcac gctctgttcc ttgcttttgc cttcaaggga attccgagtg
     1861 tccagcactg ccgtattgcc agcacagacg gattttctct aatcagtgtc cctggggcag
     1921 gaggatgacc cagtcacctt tactagtcct ttggagacaa tttacctgta ttaggagccc
     1981 aggccacgct acactctgcc cacactggtg agcaggaggt cttcccacgc cctgtcatta
     2041 ggctgcattt actcttgcta aataaaagtg ggagtggggc gtgcgcgtta tccatgtatt
     2101 gcctttcagc tctagatccc cctcccctgc ctgctctgca gtcgtgggtg gggcccgtgc
     2161 gccgtttctc cttggtagcg tgcacggtgt tgaactggga cactggggag aaaggggctt
     2221 tcatgtcgtt tccttcctgc tcctgctgca cagctgccag gagtgctctg cctggagtct
     2281 gcagacctca gagaggtccc agcaccggct gtggcctttc aggtgtaggc aggtgggctc
     2341 tgcttcccga ttccctgtga gcgcccaccc tctcgaaaga attttctgct tgccctatga
     2401 ctgtgcagac tctggctcga gcaacccggg gaacttcacc ctcaggggcc tcccacacct
     2461 tctccagcga ggaggtctca gtcccagcct cgggagggca cctccttttc tgtgctttct
     2521 tccctgaggc attcttcctc atccctaggg tgttgtgtag aactcttttt aaactctatg
     2581 ctccgagtag agttcatctt tatattaaac ttcccctgtt caaataa
//
