LOCUS       NM_025193               2171 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
            steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.
ACCESSION   NM_025193
VERSION     NM_025193.4
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 2171)
  AUTHORS   Zhao,J., Setchell,K.D.R., Gong,Y., Sun,Y., Zhang,P., Heubi,J.E.,
            Fang,L., Lu,Y., Xie,X., Gong,J. and Wang,J.S.
  TITLE     Genetic spectrum and clinical characteristics of
            3beta-hydroxy-Delta5-C27-steroid oxidoreductase (HSD3B7) deficiency
            in China
  JOURNAL   Orphanet J Rare Dis 16 (1), 417 (2021)
   PUBMED   34627351
  REMARK    GeneRIF: Genetic spectrum and clinical characteristics of
            3beta-hydroxy-Delta(5)-C27-steroid oxidoreductase (HSD3B7)
            deficiency in China.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2171)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2171)
  AUTHORS   Lu,Z.J., Wang,L., Sun,X.Y., Li,J.Y., Cheng,L., Li,N.N. and Peng,R.
  TITLE     The association between HSD3B7 gene variant and Parkinson's disease
            in ethnic Chinese
  JOURNAL   Brain Behav 8 (4), e00913 (2018)
   PUBMED   29670816
  REMARK    GeneRIF: In the classical pathway, HSD3B7 catalyzes the second step
            of bile acid formation and its mutations may reduce the synthetic
            capability.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2171)
  AUTHORS   Huang,H.Y., Zhou,H., Wang,H., Chen,Y.X. and Fang,F.
  TITLE     Novel Mutations in the 3beta-hydroxy-5-C27-steroid Dehydrogenase
            Gene (HSD3B7) in a Patient with Neonatal Cholestasis
  JOURNAL   Chin Med J (Engl) 129 (1), 98-100 (2016)
   PUBMED   26712441
  REMARK    GeneRIF: Novel Mutations in the 3beta-hydroxy-5-C27-steroid
            Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.
REFERENCE   5  (bases 1 to 2171)
  AUTHORS   Plaza-Parrochia,F., Poblete,C., Gabler,F., Carvajal,R., Romero,C.,
            Valladares,L. and Vega,M.
  TITLE     Expression of steroid sulfated transporters and 3beta-HSD activity
            in endometrium of women having polycystic ovary syndrome
  JOURNAL   Steroids 104, 189-195 (2015)
   PUBMED   26450365
  REMARK    GeneRIF: Expression of steroid sulfated transporters and 3beta-HSD
            activity in endometrium of polycystic ovary syndrome
REFERENCE   6  (bases 1 to 2171)
  AUTHORS   Persson,B., Kallberg,Y., Bray,J.E., Bruford,E., Dellaporta,S.L.,
            Favia,A.D., Duarte,R.G., Jornvall,H., Kavanagh,K.L., Kedishvili,N.,
            Kisiela,M., Maser,E., Mindnich,R., Orchard,S., Penning,T.M.,
            Thornton,J.M., Adamski,J. and Oppermann,U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   7  (bases 1 to 2171)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 2171)
  AUTHORS   Cheng,J.B., Jacquemin,E., Gerhardt,M., Nazer,H., Cresteil,D.,
            Heubi,J.E., Setchell,K.D. and Russell,D.W.
  TITLE     Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid
            oxidoreductase deficiency in 16 patients with loss of bile acid
            synthesis and liver disease
  JOURNAL   J Clin Endocrinol Metab 88 (4), 1833-1841 (2003)
   PUBMED   12679481
REFERENCE   9  (bases 1 to 2171)
  AUTHORS   Schwarz,M., Wright,A.C., Davis,D.L., Nazer,H., Bjorkhem,I. and
            Russell,D.W.
  TITLE     The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid
            oxidoreductase is mutated in progressive intrahepatic cholestasis
  JOURNAL   J Clin Invest 106 (9), 1175-1184 (2000)
   PUBMED   11067870
REFERENCE   10 (bases 1 to 2171)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36108118
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135048.2 and BC004929.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_025193.3.
            
            Summary: This gene encodes an enzyme which is involved in the
            initial stages of the synthesis of bile acids from cholesterol and
            a member of the short-chain dehydrogenase/reductase superfamily.
            The encoded protein is a membrane-associated endoplasmic reticulum
            protein which is active against 7-alpha hydrosylated sterol
            substrates. Mutations in this gene are associated with a congenital
            bile acid synthesis defect which leads to neonatal cholestasis, a
            form of progressive liver disease. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: BX379834.2, BC004929.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297679.10/ ENSP00000297679.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC135048.2         21520-21523         c
            5-900               BC004929.1         1-896
            901-901             AC135048.2         18853-18853         c
            902-2171            BC004929.1         898-2167
FEATURES             Location/Qualifiers
     source          1..2171
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2171
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /note="hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
                     steroid delta-isomerase 7"
                     /db_xref="GeneID:80270"
                     /db_xref="HGNC:HGNC:18324"
                     /db_xref="MIM:607764"
     exon            1..91
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /inference="alignment:Splign:2.1.0"
     exon            92..263
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1207
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /EC_number="1.1.1.181"
                     /note="isoform a is encoded by transcript variant 1; 3
                     beta-hydroxy-delta 5-C27-steroid oxidoreductase; short
                     chain dehydrogenase/reductase family 11E, member 3;
                     C(27)-3BETA-HSD; 3 beta-hydroxysteroid dehydrogenase type
                     VII; 3-beta-HSD VII; 3 beta-hydroxysteroid dehydrogenase
                     type 7; c(27) 3-beta-HSD; 3-beta-hydroxy-Delta(5)-C27
                     steroid oxidoreductase; cholest-5-ene-3-beta,7-alpha-diol
                     3-beta-dehydrogenase"
                     /codon_start=1
                     /product="3 beta-hydroxysteroid dehydrogenase type 7
                     isoform a"
                     /protein_id="NP_079469.2"
                     /db_xref="CCDS:CCDS10698.1"
                     /db_xref="GeneID:80270"
                     /db_xref="HGNC:HGNC:18324"
                     /db_xref="MIM:607764"
                     /translation="MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQ
                     HLGPWLEELKTGPVRVTAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIH
                     EVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYP
                     CSKALAEWLVLEANGRKVRGGLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFR
                     AIPASVEHGRVYVGNVAWMHVLAARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFL
                     GPCGLRLVGARPLLPYWLLVFLAALNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVS
                     TDKAQRHFGYEPLFSWEDSRTRTILWVQAATGSAQ"
     exon            264..419
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /inference="alignment:Splign:2.1.0"
     exon            420..528
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /inference="alignment:Splign:2.1.0"
     exon            529..628
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /inference="alignment:Splign:2.1.0"
     exon            629..791
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /inference="alignment:Splign:2.1.0"
     exon            792..2171
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2152..2157
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /note="hexamer: ATTAAA"
     polyA_site      2171
                     /gene="HSD3B7"
                     /gene_synonym="CBAS1; PFIC4; SDR11E3"
                     /note="major polyA site"
ORIGIN      
        1 agcggaagga cggtgtgcgg gccggccagc cctggacgaa agaagagggc ccctccaggc
       61 cagtctgggc accctgggat agcggctgca gccaggcatg gccgactctg cacaggccca
      121 gaagctggtg tacctggtca cagggggctg tggcttcctg ggagagcacg tggtgcgaat
      181 gctgctgcag cgggagcccc ggctcgggga gctgcgggtc tttgaccaac acctgggtcc
      241 ctggctggag gagctgaaga cagggcctgt gagggtgact gccatccagg gggacgtgac
      301 ccaggcccat gaggtggcag cagctgtggc cggagcccat gtggtcatcc acacggctgg
      361 gctggtagac gtgtttggca gggccagtcc caagaccatc catgaggtca acgtgcaggg
      421 tacccggaac gtgatcgagg cttgtgtgca gaccggaaca cggttcctgg tctacaccag
      481 cagcatggaa gttgtggggc ctaacaccaa aggtcacccc ttctacaggg gcaacgaaga
      541 caccccatac gaagcagtgc acaggcaccc ctatccttgc agcaaggccc tggccgagtg
      601 gctggtcctg gaggccaacg ggaggaaggt ccgtgggggg ctgcccctgg tgacgtgtgc
      661 ccttcgtccc acgggcatct acggtgaagg ccaccagatc atgagggact tctaccgcca
      721 gggcctgcgc ctgggaggtt ggctcttccg ggccatcccg gcctctgtgg agcatggccg
      781 ggtctatgtg ggcaatgttg cctggatgca cgtgctggca gcccgggagc tggagcagcg
      841 ggcaaccctg atgggcggcc aggtatactt ctgctacgat ggatcaccct acaggagcta
      901 cgaggatttc aacatggagt tcctgggccc ctgcggactg cggctggtgg gcgcccgccc
      961 attgctgccc tactggctgc tggtgttcct ggctgccctc aatgccctgc tgcagtggct
     1021 gctgcggcca ctggtgctct acgcacccct gctgaacccc tacacgctgg ccgtggccaa
     1081 caccaccttc accgtcagca ccgacaaggc tcagcgccat ttcggctatg agcccctgtt
     1141 ctcgtgggag gatagccgga cccgtaccat tctctgggta caggccgcta cgggttcagc
     1201 ccagtgacgg tggggctggg gcctggaggc ccagatacag cacatccacc caggtcccga
     1261 gccctcacac cctggacggg aagggacagc tgcattccag agcaggaggc agggctctgg
     1321 ggccagaatg gctgtccttg tcgtagagcc ctccacattt tctttttctt ttttgagaca
     1381 gggtcttgct ctgtcaccca gactggagtg cagtggtgtg atcatagctc actgcaccct
     1441 caacctcctg ggttcaagca atcctcctgc ctcagcctcc tgaacagctg ggaccacagg
     1501 tgcacgccac cacacctggc ttttttttgt tgtttttaga gacagggtct cactatattg
     1561 ctcaggctgg tcttgaactc ctgggctcaa gtgatcttcc cacgtgggcc tcccaaaacg
     1621 ctggaactac aagtgtgagc caccgcgcct ggcccaagcc ctccacattt tcaatccagg
     1681 agccttgagt ctgtgttgtg tcctgacacc tccaagttct agggccgtca ggacacggga
     1741 gggtttgggg acagagtgtc cttcctctgt cctctcatcc cagtcctgat ggccgcttgg
     1801 tgagtgtctg gtgccctggt ggcctgcccc agctctcttc tggctttctg agcaggaagc
     1861 gagcagaggc tccacaggct tacgctgctc tcctgacagc cacacgcgac cctcggtgca
     1921 gagtgcagag gcggctctgg ttcctccagc cacctcagtc cctctttggg aggtgatgtt
     1981 cccattgttt ttcaaaggcc tcaccttcaa ctgtctgtct tagaattccc ctctggaggg
     2041 ctatggcctc cctatgcttt cacttcccac ctctctacct aagttccttc ccagcacatc
     2101 gccagccctg ggcctgggga tgtccccaat gctgtacctg gctgaccccg gattaaaagc
     2161 ctcatccacg a
//
