LOCUS       NM_000862               1669 bp    mRNA    linear   PRI 03-DEC-2024
DEFINITION  Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
            steroid delta-isomerase 1 (HSD3B1), transcript variant 1, mRNA.
ACCESSION   NM_000862
VERSION     NM_000862.3
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 1669)
  AUTHORS   Schiffer,L. and Sharifi,N.
  TITLE     Adrenal-Permissive HSD3B1 Genotype-An Invisible Stimulator of
            Prostate Cancer Mortality
  JOURNAL   JAMA Netw Open 7 (3), e243402 (2024)
   PUBMED   38506812
  REMARK    GeneRIF: Adrenal-Permissive HSD3B1 Genotype-An Invisible Stimulator
            of Prostate Cancer Mortality.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1669)
  AUTHORS   McKay,R.R., Nelson,T.J., Pagadala,M.S., Teerlink,C.C., Gao,A.,
            Bryant,A.K., Agiri,F.Y., Guram,K., Thompson,R.F., Pridgen,K.M.,
            Seibert,T.M., Lee,K.M., Carter,H., Lynch,J.A., Hauger,R.L. and
            Rose,B.S.
  TITLE     Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer
            Outcomes
  JOURNAL   JAMA Netw Open 7 (3), e242976 (2024)
   PUBMED   38506808
  REMARK    GeneRIF: Adrenal-Permissive Germline HSD3B1 Allele and Prostate
            Cancer Outcomes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1669)
  AUTHORS   Ganguly,S., Lone,Z., Muskara,A., Imamura,J., Hardaway,A., Patel,M.,
            Berk,M., Smile,T.D., Davicioni,E., Stephans,K.L., Ciezki,J.,
            Weight,C.J., Gupta,S., Reddy,C.A., Tendulkar,R.D.,
            Chakraborty,A.A., Klein,E.A., Sharifi,N. and Mian,O.Y.
  TITLE     Intratumoral androgen biosynthesis associated with
            3beta-hydroxysteroid dehydrogenase 1 promotes resistance to
            radiotherapy in prostate cancer
  JOURNAL   J Clin Invest 133 (22), e165718 (2023)
   PUBMED   37966114
  REMARK    GeneRIF: Intratumoral androgen biosynthesis associated with
            3beta-hydroxysteroid dehydrogenase 1 promotes resistance to
            radiotherapy in prostate cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1669)
  AUTHORS   Makretskaya,N., Kalinchenko,N., Tebieva,I., Ionova,S.,
            Zinchenko,R., Marakhonov,A. and Tiulpakov,A.
  TITLE     High carrier frequency of a nonsense p.Trp230* variant in HSD3B2
            gene in Ossetians
  JOURNAL   Front Endocrinol (Lausanne) 14, 1146768 (2023)
   PUBMED   37274334
  REMARK    GeneRIF: High carrier frequency of a nonsense p.Trp230* variant in
            HSD3B2 gene in Ossetians.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1669)
  AUTHORS   Dickson,A., Yutuc,E., Thornton,C.A., Dunford,J.E., Oppermann,U.,
            Wang,Y. and Griffiths,W.J.
  TITLE     HSD3B1 is an oxysterol 3beta-hydroxysteroid dehydrogenase in human
            placenta
  JOURNAL   Open Biol 13 (5), 220313 (2023)
   PUBMED   37132223
  REMARK    GeneRIF: HSD3B1 is an oxysterol 3beta-hydroxysteroid dehydrogenase
            in human placenta.
REFERENCE   6  (bases 1 to 1669)
  AUTHORS   Dumont,M., Luu-The,V., Dupont,E., Pelletier,G. and Labrie,F.
  TITLE     Characterization, expression, and immunohistochemical localization
            of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in
            human skin
  JOURNAL   J Invest Dermatol 99 (4), 415-421 (1992)
   PUBMED   1401999
REFERENCE   7  (bases 1 to 1669)
  AUTHORS   Lachance,Y., Luu-The,V., Labrie,C., Simard,J., Dumont,M., de
            Launoit,Y., Guerin,S., Leblanc,G. and Labrie,F.
  TITLE     Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta
            5-delta 4-isomerase gene and its expression in mammalian cells
  JOURNAL   J Biol Chem 267 (5), 3551 (1992)
   PUBMED   1737804
  REMARK    Correction to:[J Biol Chem. 1990 Nov 25;265(33):20469-75.. PMID:
            2243100]
REFERENCE   8  (bases 1 to 1669)
  AUTHORS   Nickson,D.A., McBride,M.W., Zeinali,S., Hawes,C.S., Petropoulos,A.,
            Mueller,U.W. and Sutcliffe,R.G.
  TITLE     Molecular cloning and expression of human trophoblast antigen
            FDO161G and its identification as 3 beta-hydroxy-5-ene steroid
            dehydrogenase
  JOURNAL   J Reprod Fertil 93 (1), 149-156 (1991)
   PUBMED   1920284
REFERENCE   9  (bases 1 to 1669)
  AUTHORS   Russell,A.J., Gaffney,D., Gardiner,M.T., Nickson,D.A. and
            Sutcliffe,R.G.
  TITLE     Synonymous polymorphism in the coding sequence of human 3-beta
            hydroxysteroid-5-ene dehydrogenase (HSD)
  JOURNAL   Nucleic Acids Res 19 (5), 1172 (1991)
   PUBMED   1673569
REFERENCE   10 (bases 1 to 1669)
  AUTHORS   Thomas,J.L., Myers,R.P. and Strickler,R.C.
  TITLE     Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and
            steroid 5----4-ene-isomerase: purification from mitochondria and
            kinetic profiles, biophysical characterization of the purified
            mitochondrial and microsomal enzymes
  JOURNAL   J Steroid Biochem 33 (2), 209-217 (1989)
   PUBMED   2770297
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL544564.3, BC031999.1 and
            X53321.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000862.2.
            
            Summary: The protein encoded by this gene is an enzyme that
            catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid
            precursors into delta-4-ketosteroids, which leads to the production
            of all classes of steroid hormones. The encoded protein also
            catalyzes the interconversion of 3-beta-hydroxy- and
            3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016].
            
            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 :: S45679.1, AL550307.3 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:2770297)
            MANE Ensembl match               :: ENST00000369413.8/
                                                ENSP00000358421.3
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AL544564.3         8-77
            71-1149             BC031999.1         20-1098
            1150-1669           X53321.1           1042-1561
FEATURES             Location/Qualifiers
     source          1..1669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..1669
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
                     steroid delta-isomerase 1"
                     /db_xref="GeneID:3283"
                     /db_xref="HGNC:HGNC:5217"
                     /db_xref="MIM:109715"
     exon            1..53
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /inference="alignment:Splign:2.1.0"
     exon            54..283
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /inference="alignment:Splign:2.1.0"
     exon            284..448
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /inference="alignment:Splign:2.1.0"
     exon            449..1669
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1649..1654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="hexamer: AATAAA"
     polyA_site      1669
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="major polyA site"
ORIGIN      
        1 gaggtgagaa gtacgtccac tcttctgtcc agcttttaac aatctaacta atgccctctc
       61 cagggtcacc ctagaatcag atctgctccc cagcatcttc tgtttcctgg tgagtgattc
      121 ctgctacttt ggatggccat gacgggctgg agctgccttg tgacaggagc aggagggttt
      181 ctgggacaga ggatcatccg cctcttggtg aaggagaagg agctgaagga gatcagggtc
      241 ttggacaagg ccttcggacc agaattgaga gaggaatttt ctaaactcca gaacaagacc
      301 aagctgacag tgctggaagg agacattctg gatgagccat tcctgaagag agcctgccag
      361 gacgtctcgg tcatcatcca caccgcctgt atcattgatg tcttcggtgt cactcacaga
      421 gagtctatca tgaatgtcaa tgtgaaaggt acccagctcc tgttagaggc ctgtgtccaa
      481 gctagtgtgc cagtcttcat ctacaccagt agcatagagg tagccgggcc caactcctac
      541 aaggaaatca tccagaatgg ccatgaagaa gagcctctgg aaaacacatg gcccgctcca
      601 tacccacaca gcaaaaagct tgctgagaag gctgtactgg cggctaacgg gtggaatctg
      661 aaaaacggcg gcaccctgta cacttgtgcc ttacgaccca tgtatatcta tggggaagga
      721 agccgattcc tttctgctag tataaacgag gccctgaaca acaatgggat cctgtcaagt
      781 gttggaaagt tctccactgt taacccagtc tatgttggca atgtggcctg ggcccacatt
      841 ctggccttga gggccctgca ggaccccaag aaggccccaa gcatccgagg acagttctac
      901 tatatctcag atgacacgcc tcaccaaagc tatgataacc ttaattacac cctgagcaaa
      961 gagttcggcc tccgccttga ttccagatgg agctttcctt tatccctgat gtattggatt
     1021 ggcttcctgc tggaaatagt gagcttccta ctcaggccaa tttacaccta tcgaccgccc
     1081 ttcaaccgcc acatagtcac attgtcaaat agcgtattca ccttctctta taagaaggct
     1141 cagcgagatc tggcgtataa gccactctac agctgggagg aagccaagca gaaaacggtg
     1201 gagtgggttg gttcccttgt ggaccggcac aaggagaccc tgaagtccaa gactcagtga
     1261 tttaaggatg acagagatgt gcatgtgggt attgttagga gatgtcatca agctccaccc
     1321 tcctggcctc atacagaaag tgacaagggc acaagctcag gtcctgctgc ctccctttca
     1381 tacaatggcc aacttattgt attcctcatg tcatcaaaac ctgcgcagtc attggcccaa
     1441 caagaaggtt tctgtcctaa tcatatacca gaggaaagac catgtggttt gctgttacca
     1501 aatctcagta gctgattctg aacaatttag ggactctttt aacttgaggg tcgttttgac
     1561 tactagagct ccatttctac tcttaaatga gaaaggattt cctttctttt taatcttcca
     1621 ttccttcaca tagtttgata aaaagatcaa taaatgtttg aatgtttaa
//
