LOCUS       NM_003725               1512 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 6 (HSD17B6),
            mRNA.
ACCESSION   NM_003725
VERSION     NM_003725.4
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 1512)
  AUTHORS   Wei,F., Gu,Y., He,L., Kapoor,A., Lin,X., Dong,Y., Su,Y., Neira,S.V.
            and Tang,D.
  TITLE     HSD17B6 delays type 2 diabetes development via inhibiting SREBP
            activation
  JOURNAL   Metabolism 145, 155631 (2023)
   PUBMED   37330135
  REMARK    GeneRIF: HSD17B6 delays type 2 diabetes development via inhibiting
            SREBP activation.
REFERENCE   2  (bases 1 to 1512)
  AUTHORS   Mares,L., Vilchis,F., Chavez,B. and Ramos,L.
  TITLE     Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in
            subjects 46,XY with hypospadias
  JOURNAL   J Pediatr Urol 16 (5), 689 (2020)
   PUBMED   32732174
  REMARK    GeneRIF: Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes
            in subjects 46,XY with hypospadias.
REFERENCE   3  (bases 1 to 1512)
  AUTHORS   Ju,R., Wu,W., Fei,J., Qin,Y., Tang,Q., Wu,D., Xia,Y., Wu,J. and
            Wang,X.
  TITLE     Association analysis between the polymorphisms of HSD17B5 and
            HSD17B6 and risk of polycystic ovary syndrome in Chinese population
  JOURNAL   Eur J Endocrinol 172 (3), 227-233 (2015)
   PUBMED   25422294
  REMARK    GeneRIF: No significant difference was found in genotype or allele
            distributions of the polymorphisms rs12529 of HSD17B5 and rs898611
            of HSD17B6 between patients with PCOS and controls.
REFERENCE   4  (bases 1 to 1512)
  AUTHORS   Jernberg,E., Thysell,E., Bovinder Ylitalo,E., Rudolfsson,S.,
            Crnalic,S., Widmark,A., Bergh,A. and Wikstrom,P.
  TITLE     Characterization of prostate cancer bone metastases according to
            expression levels of steroidogenic enzymes and androgen receptor
            splice variants
  JOURNAL   PLoS One 8 (11), e77407 (2013)
   PUBMED   24244276
  REMARK    GeneRIF: the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA
            levels in metastases were significantly lower.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1512)
  AUTHORS   Stolk,L., Perry,J.R., Chasman,D.I., He,C., Mangino,M., Sulem,P.,
            Barbalic,M., Broer,L., Byrne,E.M., Ernst,F., Esko,T.,
            Franceschini,N., Gudbjartsson,D.F., Hottenga,J.J., Kraft,P.,
            McArdle,P.F., Porcu,E., Shin,S.Y., Smith,A.V., van Wingerden,S.,
            Zhai,G., Zhuang,W.V., Albrecht,E., Alizadeh,B.Z., Aspelund,T.,
            Bandinelli,S., Lauc,L.B., Beckmann,J.S., Boban,M., Boerwinkle,E.,
            Broekmans,F.J., Burri,A., Campbell,H., Chanock,S.J., Chen,C.,
            Cornelis,M.C., Corre,T., Coviello,A.D., d'Adamo,P., Davies,G., de
            Faire,U., de Geus,E.J., Deary,I.J., Dedoussis,G.V., Deloukas,P.,
            Ebrahim,S., Eiriksdottir,G., Emilsson,V., Eriksson,J.G.,
            Fauser,B.C., Ferreli,L., Ferrucci,L., Fischer,K., Folsom,A.R.,
            Garcia,M.E., Gasparini,P., Gieger,C., Glazer,N., Grobbee,D.E.,
            Hall,P., Haller,T., Hankinson,S.E., Hass,M., Hayward,C.,
            Heath,A.C., Hofman,A., Ingelsson,E., Janssens,A.C., Johnson,A.D.,
            Karasik,D., Kardia,S.L., Keyzer,J., Kiel,D.P., Kolcic,I.,
            Kutalik,Z., Lahti,J., Lai,S., Laisk,T., Laven,J.S., Lawlor,D.A.,
            Liu,J., Lopez,L.M., Louwers,Y.V., Magnusson,P.K., Marongiu,M.,
            Martin,N.G., Klaric,I.M., Masciullo,C., McKnight,B., Medland,S.E.,
            Melzer,D., Mooser,V., Navarro,P., Newman,A.B., Nyholt,D.R.,
            Onland-Moret,N.C., Palotie,A., Pare,G., Parker,A.N., Pedersen,N.L.,
            Peeters,P.H., Pistis,G., Plump,A.S., Polasek,O., Pop,V.J.,
            Psaty,B.M., Raikkonen,K., Rehnberg,E., Rotter,J.I., Rudan,I.,
            Sala,C., Salumets,A., Scuteri,A., Singleton,A., Smith,J.A.,
            Snieder,H., Soranzo,N., Stacey,S.N., Starr,J.M., Stathopoulou,M.G.,
            Stirrups,K., Stolk,R.P., Styrkarsdottir,U., Sun,Y.V., Tenesa,A.,
            Thorand,B., Toniolo,D., Tryggvadottir,L., Tsui,K., Ulivi,S., van
            Dam,R.M., van der Schouw,Y.T., van Gils,C.H., van Nierop,P.,
            Vink,J.M., Visscher,P.M., Voorhuis,M., Waeber,G., Wallaschofski,H.,
            Wichmann,H.E., Widen,E., Wijnands-van Gent,C.J., Willemsen,G.,
            Wilson,J.F., Wolffenbuttel,B.H., Wright,A.F.,
            Yerges-Armstrong,L.M., Zemunik,T., Zgaga,L., Zillikens,M.C.,
            Zygmunt,M., Arnold,A.M., Boomsma,D.I., Buring,J.E., Crisponi,L.,
            Demerath,E.W., Gudnason,V., Harris,T.B., Hu,F.B., Hunter,D.J.,
            Launer,L.J., Metspalu,A., Montgomery,G.W., Oostra,B.A.,
            Ridker,P.M., Sanna,S., Schlessinger,D., Spector,T.D.,
            Stefansson,K., Streeten,E.A., Thorsteinsdottir,U., Uda,M.,
            Uitterlinden,A.G., van Duijn,C.M., Volzke,H., Murray,A.,
            Murabito,J.M., Visser,J.A. and Lunetta,K.L.
  CONSRTM   LifeLines Cohort Study
  TITLE     Meta-analyses identify 13 loci associated with age at menopause and
            highlight DNA repair and immune pathways
  JOURNAL   Nat Genet 44 (3), 260-268 (2012)
   PUBMED   22267201
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1512)
  AUTHORS   Chetyrkin,S.V., Hu,J., Gough,W.H., Dumaual,N. and Kedishvili,N.Y.
  TITLE     Further characterization of human microsomal 3alpha-hydroxysteroid
            dehydrogenase
  JOURNAL   Arch Biochem Biophys 386 (1), 1-10 (2001)
   PUBMED   11360992
REFERENCE   7  (bases 1 to 1512)
  AUTHORS   Kedishvili,N.Y., Belyaeva,O.V. and Gough,W.H.
  TITLE     Cloning of the human RoDH-related short chain dehydrogenase gene
            and analysis of its structure
  JOURNAL   Chem Biol Interact 130-132 (1-3), 457-467 (2001)
   PUBMED   11306067
REFERENCE   8  (bases 1 to 1512)
  AUTHORS   Baker,M.E.
  TITLE     Evolution of 17beta-hydroxysteroid dehydrogenases and their role in
            androgen, estrogen and retinoid action
  JOURNAL   Mol Cell Endocrinol 171 (1-2), 211-215 (2001)
   PUBMED   11165032
  REMARK    Review article
REFERENCE   9  (bases 1 to 1512)
  AUTHORS   Huang,X.F. and Luu-The,V.
  TITLE     Molecular characterization of a first human
            3(alpha-->beta)-hydroxysteroid epimerase
  JOURNAL   J Biol Chem 275 (38), 29452-29457 (2000)
   PUBMED   10896656
REFERENCE   10 (bases 1 to 1512)
  AUTHORS   Biswas,M.G. and Russell,D.W.
  TITLE     Expression cloning and characterization of oxidative 17beta- and
            3alpha-hydroxysteroid dehydrogenases from rat and human prostate
  JOURNAL   J Biol Chem 272 (25), 15959-15966 (1997)
   PUBMED   9188497
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020710.1 and AA934892.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003725.3.
            
            Summary: The protein encoded by this gene has both oxidoreductase
            and epimerase activities and is involved in androgen catabolism.
            The oxidoreductase activity can convert 3 alpha-adiol to
            dihydrotestosterone, while the epimerase activity can convert
            androsterone to epi-androsterone. Both reactions use NAD+ as the
            preferred cofactor. This gene is a member of the retinol
            dehydrogenase family. [provided by RefSeq, Aug 2013].
            
            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 :: SRR3476690.550063.1,
                                           SRR5189664.56320.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322165.1/ ENSP00000318631.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1342              BC020710.1         1-1342
            1343-1512           AA934892.1         12-181              c
FEATURES             Location/Qualifiers
     source          1..1512
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..1512
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /note="hydroxysteroid 17-beta dehydrogenase 6"
                     /db_xref="GeneID:8630"
                     /db_xref="HGNC:HGNC:23316"
                     /db_xref="MIM:606623"
     exon            1..91
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /inference="alignment:Splign:2.1.0"
     exon            92..423
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1064
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.239"
                     /EC_number="1.1.1.105"
                     /EC_number="1.1.1.209"
                     /EC_number="1.1.1.53"
                     /note="3(alpha->beta)-hydroxysteroid epimerase;
                     3(alpha->beta)-hydroxysteroid epimerasel; NAD+ -dependent
                     3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid
                     epimerase; oxidative 3-alpha-hydroxysteroid-dehydrogenase;
                     retinol dehydrogenase; oxidoreductase; 17-beta-HSD 6;
                     3-alpha->beta-HSE; hydroxysteroid (17-beta) dehydrogenase
                     6 homolog; short chain dehydrogenase/reductase family 9C
                     member 6; 17-beta-hydroxysteroid dehydrogenase type 6"
                     /codon_start=1
                     /product="17-beta-hydroxysteroid dehydrogenase type 6
                     precursor"
                     /protein_id="NP_003716.2"
                     /db_xref="CCDS:CCDS8925.1"
                     /db_xref="GeneID:8630"
                     /db_xref="HGNC:HGNC:23316"
                     /db_xref="MIM:606623"
                     /translation="MWLYLAAFVGLYYLLHWYRERQVVSHLQDKYVFITGCDSGFGNL
                     LARQLDARGLRVLAACLTEKGAEQLRGQTSDRLETVTLDVTKMESIAAATQWVKEHVG
                     DRGLWGLVNNAGILTPITLCEWLNTEDSMNMLKVNLIGVIQVTLSMLPLVRRARGRIV
                     NVSSILGRVAFFVGGYCVSKYGVEAFSDILRREIQHFGVKISIVEPGYFRTGMTNMTQ
                     SLERMKQSWKEAPKHIKETYGQQYFDALYNIMKEGLLNCSTNLNLVTDCMEHALTSVH
                     PRTRYSAGWDAKFFFIPLSYLPTSLADYILTRSWPKPAQAV"
     exon            424..682
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /inference="alignment:Splign:2.1.0"
     exon            683..846
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /inference="alignment:Splign:2.1.0"
     exon            847..1512
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1322..1327
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /note="hexamer: ATTAAA"
     polyA_site      1346
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /note="major polyA site"
     regulatory      1485..1490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /note="hexamer: AATAAA"
     polyA_site      1512
                     /gene="HSD17B6"
                     /gene_synonym="HSE; RODH; SDR9C6"
                     /note="major polyA site"
ORIGIN      
        1 agcagttggg gcaggaggaa gccgactgct gcctggtctg caaagaagtc ctttcaagtc
       61 tctaggactg gactcttcct aagcaagtcc gagaaggaag caccctcact atgtggctct
      121 acctggcggc cttcgtgggc ctgtactacc ttctgcactg gtaccgggag aggcaggtgg
      181 tgagccacct ccaagacaag tatgtcttta tcacgggctg tgactcgggc tttgggaacc
      241 tgctggccag acagctggat gcacgaggct tgagagtgct ggctgcgtgt ctgacggaga
      301 agggggccga gcagctgagg ggccagacgt ctgacaggct ggagacggtg accctggatg
      361 ttaccaagat ggagagcatc gctgcagcta ctcagtgggt gaaggagcat gtgggggaca
      421 gaggactctg gggactggtg aacaatgcag gcattcttac accaattacc ttatgtgagt
      481 ggctgaacac tgaggactct atgaatatgc tcaaagtgaa cctcattggt gtgatccagg
      541 tgaccttgag catgcttcct ttggtgagga gagcacgggg aagaattgtc aatgtctcca
      601 gcattctggg aagagttgct ttctttgtag gaggctactg tgtctccaag tatggagtgg
      661 aagccttttc agatattctg aggcgtgaga ttcaacattt tggggtgaaa atcagcatag
      721 ttgaacctgg ctacttcaga acgggaatga caaacatgac acagtcctta gagcgaatga
      781 agcaaagttg gaaagaagcc cccaagcata ttaaggagac ctatggacag cagtattttg
      841 atgcccttta caatatcatg aaggaagggc tgttgaattg tagcacaaac ctgaacctgg
      901 tcactgactg catggaacat gctctgacat cggtgcatcc gcgaactcga tattcagctg
      961 gctgggatgc taaatttttc ttcatccctc tatcttattt acctacatca ctggcagact
     1021 acattttgac tagatcttgg cccaaaccag cccaggcagt ctaaagaaaa ctgggttggt
     1081 gcttcttgga atgaaggcaa aaatctgaaa ttgttagtgt ctcagtaatc ctgatttaga
     1141 acccaggctt tttgtaacaa tgtgttttct tgcctaaatt catttatctg gcatcatcag
     1201 agtactaaca tgtttatatt tcagatatcc aaagcttacc actttaggtg atgaatcttt
     1261 actattttag cccttttttg atgagactat ttgtctaaag tgaatcattt gttcttgcct
     1321 tattaaacag agtagatgga aaacaattta acctattttg aagtcatttc tttatgaata
     1381 tgaataattg ttctatgctt taataatcta ttgtgaggaa actactaaga aatatgttgg
     1441 tgtgtttgtc cttacttgaa atgggtctgt attatggtac ttttaataaa tatttgattt
     1501 ttctttctct tc
//
