LOCUS       NM_000413               1274 bp    mRNA    linear   PRI 28-AUG-2024
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 1 (HSD17B1),
            transcript variant 1, mRNA.
ACCESSION   NM_000413
VERSION     NM_000413.4
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 1274)
  AUTHORS   Heinosalo,T., Saarinen,N., Biehl,A., Rytkonen,K.T., Villa,P.M.,
            Juhila,J., Koskimies,P., Laiho,A., Hamalainen,E., Kajantie,E.,
            Raikkonen,K., Elo,L.L., Laivuori,H. and Poutanen,M.
  TITLE     Serum hydroxysteroid (17beta) dehydrogenase 1 concentration in
            pregnant women correlates with pregnancy-associated plasma protein
            A but does not serve as an independent marker for
            preeclampsiadagger
  JOURNAL   Biol Reprod 111 (2), 436-447 (2024)
   PUBMED   38780059
  REMARK    GeneRIF: Serum hydroxysteroid (17beta) dehydrogenase 1
            concentration in pregnant women correlates with
            pregnancy-associated plasma protein A but does not serve as an
            independent marker for preeclampsiadagger.
REFERENCE   2  (bases 1 to 1274)
  AUTHORS   Li,T., Song,X., Stephen,P., Yin,H. and Lin,S.X.
  TITLE     New insights into the substrate inhibition of human
            17beta-hydroxysteroid dehydrogenase type 1
  JOURNAL   J Steroid Biochem Mol Biol 228, 106246 (2023)
   PUBMED   36634828
  REMARK    GeneRIF: New insights into the substrate inhibition of human
            17beta-hydroxysteroid dehydrogenase type 1.
REFERENCE   3  (bases 1 to 1274)
  AUTHORS   Heinosalo,T., Rytkonen,K.T., Saarinen,N., Jarvensivu,P.,
            Damdimopoulou,P., Strauss,L., Orasniemi,S., Horshauge,P.,
            Gabriel,M., Koskimies,P., Ohlsson,C., Kronqvist,P. and Poutanen,M.
  TITLE     Overexpression of Human Estrogen Biosynthetic Enzyme Hydroxysteroid
            (17beta) Dehydrogenase Type 1 Induces Adenomyosis-like Phenotype in
            Transgenic Mice
  JOURNAL   Int J Mol Sci 23 (9), 4815 (2022)
   PUBMED   35563206
  REMARK    GeneRIF: Overexpression of Human Estrogen Biosynthetic Enzyme
            Hydroxysteroid (17beta) Dehydrogenase Type 1 Induces
            Adenomyosis-like Phenotype in Transgenic Mice.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1274)
  AUTHORS   Suminska,M., Podgorski,R., Fichna,P. and Fichna,M.
  TITLE     Steroid Metabolism in Children and Adolescents With Obesity and
            Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD Activity
  JOURNAL   Front Endocrinol (Lausanne) 12, 759971 (2021)
   PUBMED   34764940
  REMARK    GeneRIF: Steroid Metabolism in Children and Adolescents With
            Obesity and Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD
            Activity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1274)
  AUTHORS   He,W., Gauri,M., Li,T., Wang,R. and Lin,S.X.
  TITLE     Current knowledge of the multifunctional 17beta-hydroxysteroid
            dehydrogenase type 1 (HSD17B1)
  JOURNAL   Gene 588 (1), 54-61 (2016)
   PUBMED   27102893
  REMARK    GeneRIF: The structure of human 17beta-HSD1 and biological function
            have been studied extensively in the last two decades. In humans,
            the enzyme is expressed in placenta, ovary, endometrium and breast;
            high activity of estrogen activation provides the basis of
            17beta-HSD1's implication in estrogen-dependent diseases, such as
            breast cancer, endometriosis and non-small cell lung carcinomas.
            [Review]
            Review article
REFERENCE   6  (bases 1 to 1274)
  AUTHORS   Peltoketo,H., Isomaa,V. and Vihko,R.
  TITLE     Genomic organization and DNA sequences of human 17
            beta-hydroxysteroid dehydrogenase genes and flanking regions.
            Localization of multiple Alu sequences and putative cis-acting
            elements
  JOURNAL   Eur J Biochem 209 (1), 459-466 (1992)
   PUBMED   1327779
REFERENCE   7  (bases 1 to 1274)
  AUTHORS   Winqvist,R., Peltoketo,H., Isomaa,V., Grzeschik,K.H., Mannermaa,A.
            and Vihko,R.
  TITLE     The gene for 17 beta-hydroxysteroid dehydrogenase maps to human
            chromosome 17, bands q12-q21, and shows an RFLP with ScaI
  JOURNAL   Hum Genet 85 (5), 473-476 (1990)
   PUBMED   1977681
REFERENCE   8  (bases 1 to 1274)
  AUTHORS   Luu-The,V., Labrie,C., Simard,J., Lachance,Y., Zhao,H.F., Couet,J.,
            Leblanc,G. and Labrie,F.
  TITLE     Structure of two in tandem human 17 beta-hydroxysteroid
            dehydrogenase genes
  JOURNAL   Mol Endocrinol 4 (2), 268-275 (1990)
   PUBMED   2330005
REFERENCE   9  (bases 1 to 1274)
  AUTHORS   Luu-The,V., Labrie,C., Zhao,H.F., Couet,J., Lachance,Y., Simard,J.,
            Cote,J., Leblanc,G., Lagace,L., Berube,D. et al.
  TITLE     Purification, cloning, complementary DNA structure, and predicted
            amino acid sequence of human estradiol 17 beta-dehydrogenase
  JOURNAL   Ann N Y Acad Sci 595, 40-52 (1990)
   PUBMED   2197970
REFERENCE   10 (bases 1 to 1274)
  AUTHORS   Baker,M.E.
  TITLE     Human placental 17 beta-hydroxysteroid dehydrogenase is homologous
            to NodG protein of Rhizobium meliloti
  JOURNAL   Mol Endocrinol 3 (5), 881-884 (1989)
   PUBMED   2547159
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067852.23, X13440.1 and
            CF529535.1.
            
            On Jun 2, 2019 this sequence version replaced NM_000413.3.
            
            Summary: This gene encodes a member of the 17beta-hydroxysteroid
            dehydrogenase family of short-chain dehydrogenases/reductases. It
            has a dual function in estrogen activation and androgen
            inactivation and plays a major role in establishing the estrogen E2
            concentration gradient between serum and peripheral tissues. The
            encoded protein catalyzes the last step in estrogen activation,
            using NADPH to convert estrogens E1 and E2 and androgens like
            4-androstenedione, to testosterone. It has an N-terminal
            short-chain dehydrogenase domain with a cofactor binding site, and
            a narrow, hydrophobic C-terminal domain with a steroid substrate
            binding site. This gene is expressed primarily in the placenta and
            ovarian granulosa cells, and to a lesser extent, in the
            endometrium, adipose tissue, and prostate. Polymorphisms in this
            gene have been linked to breast and prostate cancer. A pseudogene
            of this gene has been identified. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 2. It
            encodes isoform 1, which is shorter than isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK127832.1, X13440.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000585807.6/ ENSP00000466799.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC067852.23        125104-125105       c
            3-947               X13440.1           1-945
            948-1004            AC067852.23        123084-123140       c
            1005-1274           CF529535.1         18-287              c
FEATURES             Location/Qualifiers
     source          1..1274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1274
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="hydroxysteroid 17-beta dehydrogenase 1"
                     /db_xref="GeneID:3292"
                     /db_xref="HGNC:HGNC:5210"
                     /db_xref="MIM:109684"
     exon            1..108
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..998
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.51"
                     /note="isoform 1 is encoded by transcript variant 1; short
                     chain dehydrogenase/reductase family 28CE, member 1;
                     estradiol 17-beta-dehydrogenase 1; short chain
                     dehydrogenase/reductase family 28C member 1; 20
                     alpha-hydroxysteroid dehydrogenase; 17-beta-hydroxysteroid
                     dehydrogenase type 1; placental 17-beta-hydroxysteroid
                     dehydrogenase; 17-beta-HSD 1"
                     /codon_start=1
                     /product="17-beta-hydroxysteroid dehydrogenase type 1
                     isoform 1"
                     /protein_id="NP_000404.2"
                     /db_xref="CCDS:CCDS11428.1"
                     /db_xref="GeneID:3292"
                     /db_xref="HGNC:HGNC:5210"
                     /db_xref="MIM:109684"
                     /translation="MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQG
                     RLWEAARALACPPGSLETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEA
                     LGEDAVASVLDVNVVGTVRMLQAFLPDMKRRGSGRVLVTGSVGGLMGLPFNDVYCASK
                     FALEGLCESLAVLLLPFGVHLSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQ
                     YLAHSKQVFREAAQNPEEVAEVFLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNY
                     VTAMHREVFGDVPAKAEAGAEAGGGAGPGAEDEAGRGAVGDPELGDPPAAPQ"
     exon            109..276
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /inference="alignment:Splign:2.1.0"
     exon            277..456
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /inference="alignment:Splign:2.1.0"
     exon            457..550
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /inference="alignment:Splign:2.1.0"
     exon            551..728
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /inference="alignment:Splign:2.1.0"
     exon            729..1274
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1253..1258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="hexamer: AATAAA"
     polyA_site      1274
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="major polyA site"
ORIGIN      
        1 acagtctcac catggcccgc accgtggtgc tcatcaccgg ctgttcctcg ggcatcggcc
       61 tgcacttggc cgtacgtctg gcttcagatc catcccagag cttcaaagtg tatgccacgt
      121 tgagggacct gaaaacacag ggccggctgt gggaggcggc ccgggccctg gcatgccctc
      181 cgggatccct ggagacgttg cagctggacg taagggactc aaaatccgtg gccgctgccc
      241 gggaacgcgt gactgagggc cgcgtggacg tgctggtgtg taacgcaggc ctgggcctgc
      301 tggggccgct ggaggcgctg ggggaggacg ccgtggcctc tgtgctggac gtgaatgtag
      361 tagggactgt gcggatgctg caggccttcc tgccagacat gaagaggcgc ggttcgggac
      421 gcgtgttggt gaccgggagc gtgggaggat tgatggggct gcctttcaat gacgtttatt
      481 gcgccagcaa gttcgcgctc gaaggcttat gcgagagtct ggcggttctg ctgctgccct
      541 ttggggtcca cttgagcctg atcgagtgcg gcccagtgca caccgccttc atggagaagg
      601 tgttgggcag cccagaggag gtgctggacc gcacggacat ccacaccttc caccgcttct
      661 accaatacct cgcccacagc aagcaagtct ttcgcgaggc ggcgcagaac cctgaggagg
      721 tggcggaggt cttcctcacc gctttgcgcg ccccgaagcc gaccctgcgc tacttcacca
      781 ccgagcgctt cctgcccctg ctgcggatgc gcctggacga ccccagcggc tccaactacg
      841 tcaccgccat gcaccgggaa gtgttcggcg acgttccggc aaaggccgag gctggggccg
      901 aggctggggg cggggccggg cctggggcag aggacgaggc cgggcgcggt gcggtggggg
      961 accctgagct cggcgatcct ccggccgccc cgcagtaaag gcttcctcag ccgctgtctc
     1021 ccgcgccctt ctttgtcccc tgggtctgtg tggtccctgg ggatggggcg gcggtagcag
     1081 ctgtgggtgg ctaattaaga tagatcgcgt tagccagttt taccagcgca gctaggcgcg
     1141 atggctgtcg cctgtaatgc cagcgctttg ggaggcggag gcaggaggat cgctcaagcc
     1201 ccggagttgg agaccagcca gagcaacaca gtgagacccc catctctaca aaaataaaga
     1261 aaatttaaaa atca
//
