LOCUS       NM_000197               1159 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 3 (HSD17B3),
            mRNA.
ACCESSION   NM_000197
VERSION     NM_000197.2
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 1159)
  AUTHORS   Ben Rhouma,B., Kley,M., Kallabi,F., Kacem,F.H., Kammoun,T.,
            Safi,W., Keskes,L., Mnif,M., Odermatt,A. and Belguith,N.
  TITLE     Molecular mechanisms underlying the defects of two novel mutations
            in the HSD17B3 gene found in the Tunisian population
  JOURNAL   J Steroid Biochem Mol Biol 227, 106235 (2023)
   PUBMED   36563763
  REMARK    GeneRIF: Molecular mechanisms underlying the defects of two novel
            mutations in the HSD17B3 gene found in the Tunisian population.
REFERENCE   2  (bases 1 to 1159)
  AUTHORS   Zhu,H., Yao,H., Liu,X., Xu,Y., Liu,Y., Luo,Q., Chen,Y., Shi,Y.,
            Chen,F., Zhao,S., Song,H., Han,B. and Qiao,J.
  TITLE     Lessons from 17beta-HSD3 deficiency: Clinical spectrum and complex
            molecular basis in Chinese patients
  JOURNAL   J Steroid Biochem Mol Biol 225, 106191 (2023)
   PUBMED   36154887
  REMARK    GeneRIF: Lessons from 17beta-HSD3 deficiency: Clinical spectrum and
            complex molecular basis in Chinese patients.
REFERENCE   3  (bases 1 to 1159)
  AUTHORS   Vicker,N., Bailey,H.V., Day,J.M., Mahon,M.F., Smith,A.,
            Tutill,H.J., Purohit,A. and Potter,B.V.L.
  TITLE     Substituted Aryl Benzylamines as Potent and Selective Inhibitors of
            17beta-Hydroxysteroid Dehydrogenase Type 3
  JOURNAL   Molecules 26 (23), 7166 (2021)
   PUBMED   34885749
  REMARK    GeneRIF: Substituted Aryl Benzylamines as Potent and Selective
            Inhibitors of 17beta-Hydroxysteroid Dehydrogenase Type 3.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1159)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1159)
  AUTHORS   Levy-Khademi,F., Zeligson,S., Lavi,E., Klopstock,T., Chertin,B.,
            Avnon-Ziv,C., Abulibdeh,A., Renbaum,P., Rosen,T.,
            Perlberg-Bengio,S., Zahdeh,F., Behar,D.M., Levy-Lahad,E., Zangen,D.
            and Segel,R.
  TITLE     The novel founder homozygous V225M mutation in the HSD17B3 gene
            causes aberrant splicing and XY-DSD
  JOURNAL   Endocrine 69 (3), 650-654 (2020)
   PUBMED   32372306
  REMARK    GeneRIF: The novel founder homozygous V225M mutation in the HSD17B3
            gene causes aberrant splicing and XY-DSD.
REFERENCE   6  (bases 1 to 1159)
  AUTHORS   Andersson,S., Geissler,W.M., Wu,L., Davis,D.L., Grumbach,M.M.,
            New,M.I., Schwarz,H.P., Blethen,S.L., Mendonca,B.B., Bloise,W.,
            Witchel,S.F., Cutler,G.B. Jr., Griffin,J.E., Wilson,J.D. and
            Russel,D.W.
  TITLE     Molecular genetics and pathophysiology of 17 beta-hydroxysteroid
            dehydrogenase 3 deficiency
  JOURNAL   J Clin Endocrinol Metab 81 (1), 130-136 (1996)
   PUBMED   8550739
REFERENCE   7  (bases 1 to 1159)
  AUTHORS   Geissler,W.M., Davis,D.L., Wu,L., Bradshaw,K.D., Patel,S.,
            Mendonca,B.B., Elliston,K.O., Wilson,J.D., Russell,D.W. and
            Andersson,S.
  TITLE     Male pseudohermaphroditism caused by mutations of testicular 17
            beta-hydroxysteroid dehydrogenase 3
  JOURNAL   Nat Genet 7 (1), 34-39 (1994)
   PUBMED   8075637
REFERENCE   8  (bases 1 to 1159)
  AUTHORS   Eckstein,B., Cohen,S., Farkas,A. and Rosler,A.
  TITLE     The nature of the defect in familial male pseudohermaphroditism in
            Arabs of Gaza
  JOURNAL   J Clin Endocrinol Metab 68 (2), 477-485 (1989)
   PUBMED   2918056
REFERENCE   9  (bases 1 to 1159)
  AUTHORS   Rosler,A. and Kohn,G.
  TITLE     Male pseudohermaphroditism due to 17 beta-hydroxysteroid
            dehydrogenase deficiency: studies on the natural history of the
            defect and effect of androgens on gender role
  JOURNAL   J Steroid Biochem 19 (1B), 663-674 (1983)
   PUBMED   6310248
REFERENCE   10 (bases 1 to 1159)
  AUTHORS   Ademola Akesode,F., Meyer,W.J. 3rd and Migeon,C.J.
  TITLE     Male pseudohermaphroditism with gynaecomastia due to testicular
            17-ketosteroid reductase deficiency
  JOURNAL   Clin Endocrinol (Oxf) 7 (6), 443-452 (1977)
   PUBMED   598011
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY027495.1 and BC034281.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 18, 2018 this sequence version replaced NM_000197.1.
            
            Summary: This isoform of 17 beta-hydroxysteroid dehydrogenase is
            expressed predominantly in the testis and catalyzes the conversion
            of androstenedione to testosterone.  It preferentially uses NADP as
            cofactor.  Deficiency can result in male pseudohermaphroditism with
            gynecomastia. [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 :: SRR5189667.204577.1, BC034281.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375263.8/ ENSP00000364412.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                HY027495.1         2-41
            41-1159             BC034281.1         1-1119
FEATURES             Location/Qualifiers
     source          1..1159
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..1159
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /note="hydroxysteroid 17-beta dehydrogenase 3"
                     /db_xref="GeneID:3293"
                     /db_xref="HGNC:HGNC:5212"
                     /db_xref="MIM:605573"
     exon            1..226
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1005
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.64"
                     /note="17-beta-HSD3; estradiol 17-beta-dehydrogenase 2;
                     short chain dehydrogenase/reductase family 12C member 2;
                     testicular 17-beta-hydroxysteroid dehydrogenase;
                     testosterone 17-beta-dehydrogenase 3; 17-beta-HSD 3;
                     hydroxysteroid dehydrogenase 3"
                     /codon_start=1
                     /product="17-beta-hydroxysteroid dehydrogenase type 3"
                     /protein_id="NP_000188.1"
                     /db_xref="CCDS:CCDS6716.1"
                     /db_xref="GeneID:3293"
                     /db_xref="HGNC:HGNC:5212"
                     /db_xref="MIM:605573"
                     /translation="MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFL
                     RSMGQWAVITGAGDGIGKAYSFELAKRGLNVVLISRTLEKLEAIATEIERTTGRSVKI
                     IQADFTKDDIYEHIKEKLAGLEIGILVNNVGMLPNLLPSHFLNAPDEIQSLIHCNITS
                     VVKMTQLILKHMESRQKGLILNISSGIALFPWPLYSMYSASKAFVCAFSKALQEEYKA
                     KEVIIQVLTPYAVSTAMTKYLNTNVITKTADEFVKESLNYVTIGGETCGCLAHEILAG
                     FLSLIPAWAFYSGAFQRLLLTHYVAYLKLNTKVR"
     exon            227..273
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            274..349
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            350..457
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            458..525
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            526..561
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            562..596
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            597..678
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            679..744
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            745..894
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1159
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1137..1142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /note="hexamer: AATACA"
     polyA_site      1159
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /note="major polyA site"
ORIGIN      
        1 agagcagcgt ggtcccagga ggcatacaca gagagccacg gccagggctg aaacagtctg
       61 ttgagtgcag ccatggggga cgtcctggaa cagttcttca tcctcacagg gctgctggtg
      121 tgcctggcct gcctggcgaa gtgcgtgaga ttctccagat gtgttttact gaactactgg
      181 aaagttttgc caaagtcttt cttgcggtca atgggacagt gggcagtgat cactggagca
      241 ggcgatggaa ttgggaaagc gtactcgttc gagctagcaa aacgtggact caatgttgtc
      301 cttattagcc ggacgctgga aaaactagag gccattgcca cagagatcga gcggactaca
      361 gggaggagtg tgaagattat acaagcagat tttacaaaag atgacatcta cgagcatatt
      421 aaagaaaaac ttgcaggctt agaaattgga attttagtca acaatgtcgg aatgcttcca
      481 aaccttctcc caagccattt cctgaacgca ccggatgaaa tccagagcct catccattgt
      541 aacatcacct ccgtagtcaa gatgacacag ctaattctga aacatatgga atcaaggcag
      601 aaaggtctca tcctgaacat ttcttctggg atagccctgt ttccttggcc tctctactcc
      661 atgtactcag cttccaaggc gtttgtgtgc gcattttcca aggccctgca agaggaatat
      721 aaagcaaaag aagtcatcat ccaggtgctg accccatatg ctgtctcgac tgcaatgaca
      781 aagtatctaa atacaaatgt gataaccaag actgctgatg agtttgtcaa agagtcattg
      841 aattatgtca caattggagg tgaaacctgt ggctgccttg cccatgaaat cttggcgggc
      901 tttctgagcc tgatcccggc ctgggccttc tacagcggtg ccttccaaag gctgctcctg
      961 acacactatg tggcatacct gaagctcaac accaaggtca ggtagccagg cggtgaggag
     1021 tccagcacaa ccttttcctc accagtccca tgctggctga agaggaccag aggagcagac
     1081 cagcacttca acctagtccg ctgaagatgg agggggctgg ggtcacagag gcatagaata
     1141 cacatttttt gccacttta
//
