LOCUS       NM_014762               4233 bp    mRNA    linear   PRI 23-MAR-2024
DEFINITION  Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.
ACCESSION   NM_014762
VERSION     NM_014762.4
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 4233)
  AUTHORS   Li,H., Yang,Z., Liang,W., Nie,H., Guan,Y., Yang,N., Ji,T., Liu,Y.,
            Huang,Y., Zhang,L., Yan,J. and Zhang,C.
  TITLE     DHCR24 Insufficiency Promotes Vascular Endothelial Cell Senescence
            and Endothelial Dysfunction via Inhibition of Caveolin-1/ERK
            Signaling
  JOURNAL   J Gerontol A Biol Sci Med Sci 79 (4) (2024)
   PUBMED   38407305
  REMARK    GeneRIF: DHCR24 Insufficiency Promotes Vascular Endothelial Cell
            Senescence and Endothelial Dysfunction via Inhibition of
            Caveolin-1/ERK Signaling.
REFERENCE   2  (bases 1 to 4233)
  AUTHORS   Lu,Z., Wang,H., Zhang,X., Huang,X., Jiang,S., Li,Y., Liu,T., Lu,X.
            and Gao,B.
  TITLE     High fat diet induces brain injury and neuronal apoptosis via
            down-regulating 3-beta hydroxycholesterol 24 reductase (DHCR24)
  JOURNAL   Cell Tissue Res 393 (3), 471-487 (2023)
   PUBMED   37458798
  REMARK    GeneRIF: High fat diet induces brain injury and neuronal apoptosis
            via down-regulating 3-beta hydroxycholesterol 24 reductase
            (DHCR24).
REFERENCE   3  (bases 1 to 4233)
  AUTHORS   Yan,L., Wu,X., Zhang,Y., Tan,Q., Xu,J., Wang,Y., Wang,R., Li,Y. and
            Zhao,J.
  TITLE     LncRNA ENST00000370438 promotes cell proliferation by upregulating
            DHCR24 in breast cancer
  JOURNAL   Mol Carcinog 62 (6), 855-865 (2023)
   PUBMED   36946578
  REMARK    GeneRIF: LncRNA ENST00000370438 promotes cell proliferation by
            upregulating DHCR24 in breast cancer.
REFERENCE   4  (bases 1 to 4233)
  AUTHORS   Huang,Y., Zhang,W., Guo,X., Zhang,Y., Wu,J. and Zu,H.
  TITLE     Cellular cholesterol loss by DHCR24 knockdown leads to Abeta
            production by changing APP intracellular localization
  JOURNAL   J Lipid Res 64 (5), 100367 (2023)
   PUBMED   37011864
  REMARK    GeneRIF: Cellular cholesterol loss by DHCR24 knockdown leads to
            Abeta production by changing APP intracellular localization.
REFERENCE   5  (bases 1 to 4233)
  AUTHORS   Chen,C.H., Weng,T.H., Huang,K.Y., Kao,H.J., Liao,K.W. and Weng,S.L.
  TITLE     Anticancer peptide Q7 suppresses the growth and migration of human
            endometrial cancer by inhibiting DHCR24 expression and modulating
            the AKT-mediated pathway
  JOURNAL   Int J Med Sci 19 (14), 2008-2021 (2022)
   PUBMED   36483599
  REMARK    GeneRIF: Anticancer peptide Q7 suppresses the growth and migration
            of human endometrial cancer by inhibiting DHCR24 expression and
            modulating the AKT-mediated pathway.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4233)
  AUTHORS   Luciani,P., Ferruzzi,P., Arnaldi,G., Crescioli,C., Benvenuti,S.,
            Nesi,G., Valeri,A., Greeve,I., Serio,M., Mannelli,M. and Peri,A.
  TITLE     Expression of the novel adrenocorticotropin-responsive gene
            selective Alzheimer's disease indicator-1 in the normal adrenal
            cortex and in adrenocortical adenomas and carcinomas
  JOURNAL   J Clin Endocrinol Metab 89 (3), 1332-1339 (2004)
   PUBMED   15001630
  REMARK    GeneRIF: seladin-1/DHCR24 is modulated by the ACTH/cAMP-driven
            pathway and its expression is reduced in adrenal cancer
REFERENCE   7  (bases 1 to 4233)
  AUTHORS   Andersson,H.C., Kratz,L. and Kelley,R.
  TITLE     Desmosterolosis presenting with multiple congenital anomalies and
            profound developmental delay
  JOURNAL   Am J Med Genet 113 (4), 315-319 (2002)
   PUBMED   12457401
REFERENCE   8  (bases 1 to 4233)
  AUTHORS   Waterham,H.R., Koster,J., Romeijn,G.J., Hennekam,R.C., Vreken,P.,
            Andersson,H.C., FitzPatrick,D.R., Kelley,R.I. and Wanders,R.J.
  TITLE     Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause
            desmosterolosis, an autosomal recessive disorder of cholesterol
            biosynthesis
  JOURNAL   Am J Hum Genet 69 (4), 685-694 (2001)
   PUBMED   11519011
REFERENCE   9  (bases 1 to 4233)
  AUTHORS   Greeve,I., Hermans-Borgmeyer,I., Brellinger,C., Kasper,D.,
            Gomez-Isla,T., Behl,C., Levkau,B. and Nitsch,R.M.
  TITLE     The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to
            Alzheimer's disease-associated neurodegeneration and oxidative
            stress
  JOURNAL   J Neurosci 20 (19), 7345-7352 (2000)
   PUBMED   11007892
REFERENCE   10 (bases 1 to 4233)
  AUTHORS   Croce,C.M., Kieba,I., Koprowski,H., Molino,M. and Rothblat,G.H.
  TITLE     Restoration of the conversion of desmosterol to cholesterol in
            L-cells after hybridization with human fibroblasts
  JOURNAL   Proc Natl Acad Sci U S A 71 (1), 110-113 (1974)
   PUBMED   4359325
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP200916.1, BC004375.1 and
            AC096536.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 8, 2018 this sequence version replaced NM_014762.3.
            
            Summary: This gene encodes a flavin adenine dinucleotide
            (FAD)-dependent oxidoreductase which catalyzes the reduction of the
            delta-24 double bond of sterol intermediates during cholesterol
            biosynthesis. The protein contains a leader sequence that directs
            it to the endoplasmic reticulum membrane. Missense mutations in
            this gene have been associated with desmosterolosis. Also, reduced
            expression of the gene occurs in the temporal cortex of Alzheimer
            disease patients and overexpression has been observed in adrenal
            gland cancer cells. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803614.130995.1,
                                           SRR1803616.25944.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2155770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371269.9/ ENSP00000360316.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-529               BP200916.1         54-582
            530-1847            BC004375.1         489-1806
            1848-4233           AC096536.2         66340-68725         c
FEATURES             Location/Qualifiers
     source          1..4233
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..4233
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /note="24-dehydrocholesterol reductase"
                     /db_xref="GeneID:1718"
                     /db_xref="HGNC:HGNC:2859"
                     /db_xref="MIM:606418"
     exon            1..307
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1627
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /EC_number="1.3.1.72"
                     /note="desmosterol-to-cholesterol enzyme; 3
                     beta-hydroxysterol delta 24-reductase; selective AD
                     indicator 1; diminuto/dwarf1 homolog; seladin 1;
                     delta(24)-sterol reductase; 3beta-hydroxysterol delta24
                     reductase"
                     /codon_start=1
                     /product="delta(24)-sterol reductase precursor"
                     /protein_id="NP_055577.1"
                     /db_xref="CCDS:CCDS600.1"
                     /db_xref="GeneID:1718"
                     /db_xref="HGNC:HGNC:2859"
                     /db_xref="MIM:606418"
                     /translation="MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSL
                     IFDIYYYVRAWVVFKLSSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSL
                     RVGKYKKTHKNIMINLMDILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELD
                     DLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSC
                     GTLGFLVAAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDE
                     AVIMTGVMTDEAEPSKLNSIGNYYKPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRS
                     IFWELQDIIPFGNNPIFRYLFGWMVPPKISLLKLTQGETLRKLYEQHHVVQDMLVPMK
                     CLQQALHTFQNDIHVYPIWLCPFILPSQPGLVHPKGNEAELYIDIGAYGEPRVKHFEA
                     RSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLYHKLREKLGCQDAFPEVYD
                     KICKAARH"
     exon            308..463
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     exon            464..569
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     exon            570..688
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     exon            689..952
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1096
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1294
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1473
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..4233
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4210..4215
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /note="hexamer: AATAAA"
     polyA_site      4227
                     /gene="DHCR24"
                     /gene_synonym="DCE; Nbla03646; seladin-1; SELADIN1"
                     /note="major polyA site"
ORIGIN      
        1 agagcgggcc aggcgcggag ctggcggcag tgacaggagg cgcgaacccg cagcgcttac
       61 cgcgcggcgc cgcaccatgg agcccgccgt gtcgctggcc gtgtgcgcgc tgctcttcct
      121 gctgtgggtg cgcctgaagg ggctggagtt cgtgctcatc caccagcgct gggtgttcgt
      181 gtgcctcttc ctcctgccgc tctcgcttat cttcgatatc tactactacg tgcgcgcctg
      241 ggtggtgttc aagctcagca gcgctccgcg cctgcacgag cagcgcgtgc gggacatcca
      301 gaagcaggtg cgggaatgga aggagcaggg tagcaagacc ttcatgtgca cggggcgccc
      361 tggctggctc actgtctcac tacgtgtcgg gaagtacaag aagacacaca aaaacatcat
      421 gatcaacctg atggacattc tggaagtgga caccaagaaa cagattgtcc gtgtggagcc
      481 cttggtgacc atgggccagg tgactgccct gctgacctcc attggctgga ctctccccgt
      541 gttgcctgag cttgatgacc tcacagtggg gggcttgatc atgggcacag gcatcgagtc
      601 atcatcccac aagtacggcc tgttccaaca catctgcact gcttacgagc tggtcctggc
      661 tgatggcagc tttgtgcgat gcactccgtc cgaaaactca gacctgttct atgccgtacc
      721 ctggtcctgt gggacgctgg gtttcctggt ggccgctgag atccgcatca tccctgccaa
      781 gaagtacgtc aagctgcgtt tcgagccagt gcggggcctg gaggctatct gtgccaagtt
      841 cacccacgag tcccagcggc aggagaacca cttcgtggaa gggctgctct actccctgga
      901 tgaggctgtc attatgacag gggtcatgac agatgaggca gagcccagca agctgaatag
      961 cattggcaat tactacaagc cgtggttctt taagcatgtg gagaactatc tgaagacaaa
     1021 ccgagagggc ctggagtaca ttcccttgag acactactac caccgccaca cgcgcagcat
     1081 cttctgggag ctccaggaca ttatcccctt tggcaacaac cccatcttcc gctacctctt
     1141 tggctggatg gtgcctccca agatctccct cctgaagctg acccagggtg agaccctgcg
     1201 caagctgtac gagcagcacc acgtggtgca ggacatgctg gtgcccatga agtgcctgca
     1261 gcaggccctg cacaccttcc aaaacgacat ccacgtctac cccatctggc tgtgtccgtt
     1321 catcctgccc agccagccag gcctagtgca ccccaaagga aatgaggcag agctctacat
     1381 cgacattgga gcatatgggg agccgcgtgt gaaacacttt gaagccaggt cctgcatgag
     1441 gcagctggag aagtttgtcc gcagcgtgca tggcttccag atgctgtatg ccgactgcta
     1501 catgaaccgg gaggagttct gggagatgtt tgatggctcc ttgtaccaca agctgcgaga
     1561 gaagctgggt tgccaggacg ccttccccga ggtgtacgac aagatctgca aggccgccag
     1621 gcactgagct ggagcccgcc tggagagaca gacacgtgtg agtggtcagg catcttccct
     1681 tcactcaagc ttggctgctt tcctagatcc acactttcaa agagaaaccc ctccagaact
     1741 cccaccctga cagcccaaca ccaccttcct cctggcttcc agggggcagc ccagtggaat
     1801 ggaaagaatg tgggatttgg agtcagacaa gcctgagtcc agttccccgt ttagaactca
     1861 ttagctgtgt gactctgggt gagtccctta acccctctga gcccgggtct cttcattagt
     1921 tgaaagggat agtaatacct acttgcaggt tgttgtcatc tgagttgagc actggtcaca
     1981 ttgaaggtgc tgggtaagtg gtagctcttg ttgcttcccg ttcagcgtca catctgcagt
     2041 ggagcctgaa aaggctccac attaggtcac ctgtgcacag ccatggctgg aatgatgaag
     2101 gggatacgct ggagttgccc tgccatcgcc tccatcagcc agacgaggtc ctcacaggag
     2161 aaggacagct cttccccacc ctgggatctc aggagggcag ccacggagtg gggaggcccc
     2221 agatgcgctg tgccaaagcc aggtccgagg ccaaagttct ccctgccatc cttggtgccg
     2281 tcctgcccct tcctccttca tgcctgggcc tgcaggccca ccccagccac cactgagtcc
     2341 actcggagtg ccctgtgttc ctggagaagg cattccaggg ttgaatcttg tcccagcctc
     2401 agcctgggac acctaggtgg agagagtggt ctccgctctg aattggatcc aggggacctg
     2461 ggctcattct tcttggctca ccaaccctgc aggcctcatc tttcccaaaa cccactttgt
     2521 cttggtggga gtgggtccgc gctgctctgc agcaggggct ggggagtgga cagcatcagg
     2581 tgggaaagtg gagtccaccc tcatgtttct gtaggattct caccgtgggg ctggaagaaa
     2641 agagcatcga cttgatttct ccaaccactc atccctcttt ttctttcttc caccactccc
     2701 caccccagct gtagttaatt tcagtgcctt acaaatccta agctcagaga aagttccatt
     2761 tccgttccag agggaaggga acctccctag gtccttccct ggcttgttat aacgcaaagc
     2821 ttggttgttt atgcaactct atcttaagaa ctgcccagcc tcagctgaaa acccgaatct
     2881 gagaaggaat tgcgtcatgt aagggaagct ggaattaagg gagctgagcc agtcatggtt
     2941 gtggcgtgtg agtcaggaga cctaggtttc agcccctctc tactgtcagc gagctgtgca
     3001 acgtgggcaa gtcattgtcc tctgagctgc agtttcctca tctgtcacat cgctacagac
     3061 aagacctccc tggaaccctt ctgattgtct tagacactgt ggttgcaaaa cccacggaaa
     3121 gcctcatttg tgtggaaagt cagaggaaaa atgatccagt ggacacttgg ggattatctg
     3181 tcattcaaga tccttccttc aaccccaagg tcagctccca tctcatttcc agaaaggctc
     3241 atacctggct tgcagggaag catctgtctt gtcattccag gtgccagaat cctctcagag
     3301 tcattgaagg gtgttcaccc atcccaccca aggcttggca cactgccagt gtcttagcag
     3361 ggtcttgtga gggctggggg catccaggca ctcagaaggc aaaggaacca ccctacccat
     3421 ttggcctctg gagggggcag aagaaagaaa taaacctcat cctatatttt acaaagcatg
     3481 tgaattctgg cattagctct cataggagac ccatgtgctt ccttgctcag tgcaaaactg
     3541 atgattctac ttgctgtaga tgaatggtta acacgagcta gttaaacagt gccattgttt
     3601 tgccagtgaa gcctccaacc ctaagccact gggacggtgg ccagagatgc cagcagcctc
     3661 tgtcgccctt agtcatataa ccaaaatcca gaccttatcc acaacccggg gcttggaaag
     3721 gaaggtattt tggaatcaca ccctccggtt atgttgctcc agtaaaatct tgcctggaaa
     3781 gaggcagtct tcttagcatg gtgagctgag ttcatggctt ttttttgtag ccagtcctgt
     3841 ccctggccat ccatgtgatg gttttggatg gagttaaact tgatgccagt gggcagtgca
     3901 tgtggaaagt atcagagtaa ggctctcccc tccagagccc tgagtttctt ggctgcatga
     3961 aggttttctt tagaatcaga attgtagcca gtttctttgg ccagaaggat gaatacttgg
     4021 atattactga aagggagggg tggagatggg tgtggcagtg tatggtgtgt gatttttatt
     4081 ttcttctttg gtcatggggg ccaaggagaa aggcatgaat cttccctgtc aggctcttac
     4141 agccacaggc actgtgtcta ctgtctggaa gacatgtccc catggctgtg gggccgctgc
     4201 ttctgtttaa ataaaagtgg cctggaagct ggc
//
