LOCUS       NM_016246               1050 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 14 (HSD17B14),
            mRNA.
ACCESSION   NM_016246
VERSION     NM_016246.3
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 1050)
  AUTHORS   Witecka,A., Kazak,V., Kwiatkowski,S., Kiersztan,A., Jagielski,A.K.,
            Kozminski,W., Augustyniak,R. and Drozak,J.
  TITLE     Hydroxysteroid 17-beta dehydrogenase 14 (HSD17B14) is an L-fucose
            dehydrogenase, the initial enzyme of the L-fucose degradation
            pathway
  JOURNAL   J Biol Chem 300 (8), 107501 (2024)
   PUBMED   38944119
  REMARK    GeneRIF: Hydroxysteroid 17-beta dehydrogenase 14 (HSD17B14) is an
            L-fucose dehydrogenase, the initial enzyme of the L-fucose
            degradation pathway.
REFERENCE   2  (bases 1 to 1050)
  AUTHORS   Mychaleckyj,J.C., Valo,E., Ichimura,T., Ahluwalia,T.S., Dina,C.,
            Miller,R.G., Shabalin,I.G., Gyorgy,B., Cao,J., Onengut-Gumuscu,S.,
            Satake,E., Smiles,A.M., Haukka,J.K., Tregouet,D.A., Costacou,T.,
            O'Neil,K., Paterson,A.D., Forsblom,C., Keenan,H.A., Pezzolesi,M.G.,
            Pragnell,M., Galecki,A., Rich,S.S., Sandholm,N., Klein,R.,
            Klein,B.E., Susztak,K., Orchard,T.J., Korstanje,R., King,G.L.,
            Hadjadj,S., Rossing,P., Bonventre,J.V., Groop,P.H., Warram,J.H. and
            Krolewski,A.S.
  TITLE     Association of Coding Variants in Hydroxysteroid 17-beta
            Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage
            Kidney Disease in Type 1 Diabetes
  JOURNAL   J Am Soc Nephrol 32 (10), 2634-2651 (2021)
   PUBMED   34261756
  REMARK    GeneRIF: Association of Coding Variants in Hydroxysteroid 17-beta
            Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage
            Kidney Disease in Type 1 Diabetes.
REFERENCE   3  (bases 1 to 1050)
  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   4  (bases 1 to 1050)
  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   5  (bases 1 to 1050)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1050)
  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 1050)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   8  (bases 1 to 1050)
  AUTHORS   Lukacik,P., Keller,B., Bunkoczi,G., Kavanagh,K.L., Lee,W.H.,
            Adamski,J. and Oppermann,U.
  TITLE     Structural and biochemical characterization of human orphan DHRS10
            reveals a novel cytosolic enzyme with steroid dehydrogenase
            activity
  JOURNAL   Biochem J 402 (3), 419-427 (2007)
   PUBMED   17067289
  REMARK    GeneRIF: crystal structure of the DHRS10 apoenzyme exhibits
            secondary structure of the SDR (short-chain
            dehydrogenase/reductase) family
            Erratum:[Biochem J. 2007 May 1;403(3):615. Kavanagh, Kathryn
            [Kavanagh, Kathryn L]; Hwa, Lee Wen [corrected to Lee, Wen Hwa]]
REFERENCE   9  (bases 1 to 1050)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 1050)
  AUTHORS   Haeseleer,F. and Palczewski,K.
  TITLE     Short-chain dehydrogenases/reductases in retina
  JOURNAL   Methods Enzymol 316, 372-383 (2000)
   PUBMED   10800688
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI602824.1, BC006283.2 and BC006294.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016246.2.
            
            Summary: 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14,
            are primarily involved in metabolism of steroids at the C17
            position and also of other substrates, such as fatty acids,
            prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed
            17067289]).[supplied by OMIM, Jun 2009].
            
            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 :: BC006283.2, AF126781.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263278.9/ ENSP00000263278.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                BI602824.1         195-222
            29-1048             BC006283.2         8-1027
            1049-1050           BC006294.1         1036-1037
FEATURES             Location/Qualifiers
     source          1..1050
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..1050
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /note="hydroxysteroid 17-beta dehydrogenase 14"
                     /db_xref="GeneID:51171"
                     /db_xref="HGNC:HGNC:23238"
                     /db_xref="MIM:612832"
     exon            1..168
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..893
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /EC_number="1.1.1.122"
                     /note="retinal short-chain dehydrogenase/reductase 3;
                     dehydrogenase/reductase (SDR family) member 10; short
                     chain dehydrogenase/reductase family 47C member 1;
                     17-beta-hydroxysteroid dehydrogenase 14; 17-beta-HSD 14;
                     17-beta-hydroxysteroid dehydrogenase DHRS10; retinal
                     short-chain dehydrogenase/reductase retSDR3; testicular
                     tissue protein Li 52"
                     /codon_start=1
                     /product="L-fucose dehydrogenase"
                     /protein_id="NP_057330.2"
                     /db_xref="CCDS:CCDS12736.1"
                     /db_xref="GeneID:51171"
                     /db_xref="HGNC:HGNC:23238"
                     /db_xref="MIM:612832"
                     /translation="MATGTRYAGKVVVVTGGGRGIGAGIVRAFVNSGARVVICDKDES
                     GGRALEQELPGAVFILCDVTQEDDVKTLVSETIRRFGRLDCVVNNAGHHPPPQRPEET
                     SAQGFRQLLELNLLGTYTLTKLALPYLRKSQGNVINISSLVGAIGQAQAVPYVATKGA
                     VTAMTKALALDESPYGVRVNCISPGNIWTPLWEELAALMPDPRATIREGMLAQPLGRM
                     GQPAEVGAAAVFLASEANFCTGIELLVTGGAELGYGCKASRSTPVDAPDIPS"
     exon            169..207
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     exon            208..290
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     exon            291..357
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     exon            358..449
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     exon            450..554
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     exon            555..622
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     exon            623..719
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     exon            720..1050
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1027..1032
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /note="hexamer: CATAAA"
     polyA_site      1050
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /note="major polyA site"
ORIGIN      
        1 gatttgatgc gacggcctca cggggctttg gaggtgaaag aggcccagag tagagagaga
       61 gagagaccga cgtacacggg atggctacgg gaacgcgcta tgccgggaag gtggtggtcg
      121 tgaccggggg cgggcgcggc atcggagctg ggatcgtgcg cgccttcgtg aacagcgggg
      181 cccgagtggt tatctgcgac aaggatgagt ctgggggccg ggccctggag caggagctcc
      241 ctggagctgt ctttatcctc tgtgatgtga ctcaggaaga tgatgtgaag accctggttt
      301 ctgagaccat ccgccgattt ggccgcctgg attgtgttgt caacaacgct ggccaccacc
      361 cacccccaca gaggcctgag gagacctctg cccagggatt ccgccagctg ctggagctga
      421 acctactggg gacgtacacc ttgaccaagc tcgccctccc ctacctgcgg aagagtcaag
      481 ggaatgtcat caacatctcc agcctggtgg gggcaatcgg ccaggcccag gcagttccct
      541 atgtggccac caagggggca gtaacagcca tgaccaaagc tttggccctg gatgaaagtc
      601 catatggtgt ccgagtcaac tgtatctccc caggaaacat ctggaccccg ctgtgggagg
      661 agctggcagc cttaatgcca gaccctaggg ccacaatccg agagggcatg ctggcccagc
      721 cactgggccg catgggccag cccgctgagg tcggggctgc ggcagtgttc ctggcctccg
      781 aagccaactt ctgcacgggc attgaactgc tcgtgacggg gggtgcagag ctggggtacg
      841 ggtgcaaggc cagtcggagc acccccgtgg acgcccccga tatcccttcc tgatttctct
      901 catttctact tggggccccc ttcctaggac tctcccaccc caaactccaa cctgtatcag
      961 atgcagcccc caagccctta gactctaagc ccagttagca aggtgccggg tcaccctgca
     1021 ggttcccata aaaacgattt gcagccagaa
//
