LOCUS       NM_178135               2368 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13),
            transcript variant A, mRNA.
ACCESSION   NM_178135
VERSION     NM_178135.5
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 2368)
  AUTHORS   Rieman-Klingler,M.C., Jung,J., Tesfai,K., Loomba,R. and Non,A.L.
  TITLE     Integrating genetic and socioeconomic data to predict the
            progression of nonalcoholic fatty liver disease
  JOURNAL   Am J Biol Anthropol 184 (4), e24979 (2024)
   PUBMED   38778456
  REMARK    GeneRIF: Integrating genetic and socioeconomic data to predict the
            progression of nonalcoholic fatty liver disease.
REFERENCE   2  (bases 1 to 2368)
  AUTHORS   Innes,H., Morgan,M.Y., Hampe,J., Stickel,F. and Buch,S.
  TITLE     The rs72613567:TA polymorphism in HSD17B13 is associated with
            survival benefit after development of hepatocellular carcinoma
  JOURNAL   Aliment Pharmacol Ther 58 (6), 623-631 (2023)
   PUBMED   37470344
  REMARK    GeneRIF: The rs72613567:TA polymorphism in HSD17B13 is associated
            with survival benefit after development of hepatocellular
            carcinoma.
REFERENCE   3  (bases 1 to 2368)
  AUTHORS   Rutledge,S.M., Soper,E.R., Ma,N., Pejaver,V., Friedman,S.L.,
            Branch,A.D., Kenny,E.E., Belbin,G.M. and Abul-Husn,N.S.
  TITLE     Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis
            in Hispanic/Latino Individuals of Diverse Genetic Ancestries
  JOURNAL   Clin Gastroenterol Hepatol 21 (10), 2578-2587 (2023)
   PUBMED   36610497
  REMARK    GeneRIF: Association of HSD17B13 and PNPLA3 With Liver Enzymes and
            Fibrosis in Hispanic/Latino Individuals of Diverse Genetic
            Ancestries.
REFERENCE   4  (bases 1 to 2368)
  AUTHORS   Liu,S., Sommese,R.F., Nedoma,N.L., Stevens,L.M., Dutra,J.K.,
            Zhang,L., Edmonds,D.J., Wang,Y., Garnsey,M. and Clasquin,M.F.
  TITLE     Structural basis of lipid-droplet localization of
            17-beta-hydroxysteroid dehydrogenase 13
  JOURNAL   Nat Commun 14 (1), 5158 (2023)
   PUBMED   37620305
  REMARK    GeneRIF: Structural basis of lipid-droplet localization of
            17-beta-hydroxysteroid dehydrogenase 13.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2368)
  AUTHORS   Kalinowski,P., Smyk,W., Nowosad,M., Paluszkiewicz,R.,
            Michalowski,L., Ziarkiewicz-Wroblewska,B., Weber,S.N.,
            Milkiewicz,P., Lammert,F., Zieniewicz,K. and Krawczyk,M.
  TITLE     MTARC1 and HSD17B13 Variants Have Protective Effects on
            Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric
            Surgery
  JOURNAL   Int J Mol Sci 23 (24), 15825 (2022)
   PUBMED   36555467
  REMARK    GeneRIF: MTARC1 and HSD17B13 Variants Have Protective Effects on
            Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric
            Surgery.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2368)
  AUTHORS   Chambers,J.C., Zhang,W., Sehmi,J., Li,X., Wass,M.N., Van der
            Harst,P., Holm,H., Sanna,S., Kavousi,M., Baumeister,S.E.,
            Coin,L.J., Deng,G., Gieger,C., Heard-Costa,N.L., Hottenga,J.J.,
            Kuhnel,B., Kumar,V., Lagou,V., Liang,L., Luan,J., Vidal,P.M., Mateo
            Leach,I., O'Reilly,P.F., Peden,J.F., Rahmioglu,N., Soininen,P.,
            Speliotes,E.K., Yuan,X., Thorleifsson,G., Alizadeh,B.Z.,
            Atwood,L.D., Borecki,I.B., Brown,M.J., Charoen,P., Cucca,F.,
            Das,D., de Geus,E.J., Dixon,A.L., Doring,A., Ehret,G.,
            Eyjolfsson,G.I., Farrall,M., Forouhi,N.G., Friedrich,N.,
            Goessling,W., Gudbjartsson,D.F., Harris,T.B., Hartikainen,A.L.,
            Heath,S., Hirschfield,G.M., Hofman,A., Homuth,G., Hypponen,E.,
            Janssen,H.L., Johnson,T., Kangas,A.J., Kema,I.P., Kuhn,J.P.,
            Lai,S., Lathrop,M., Lerch,M.M., Li,Y., Liang,T.J., Lin,J.P.,
            Loos,R.J., Martin,N.G., Moffatt,M.F., Montgomery,G.W., Munroe,P.B.,
            Musunuru,K., Nakamura,Y., O'Donnell,C.J., Olafsson,I.,
            Penninx,B.W., Pouta,A., Prins,B.P., Prokopenko,I., Puls,R.,
            Ruokonen,A., Savolainen,M.J., Schlessinger,D., Schouten,J.N.,
            Seedorf,U., Sen-Chowdhry,S., Siminovitch,K.A., Smit,J.H.,
            Spector,T.D., Tan,W., Teslovich,T.M., Tukiainen,T.,
            Uitterlinden,A.G., Van der Klauw,M.M., Vasan,R.S., Wallace,C.,
            Wallaschofski,H., Wichmann,H.E., Willemsen,G., Wurtz,P., Xu,C.,
            Yerges-Armstrong,L.M., Abecasis,G.R., Ahmadi,K.R., Boomsma,D.I.,
            Caulfield,M., Cookson,W.O., van Duijn,C.M., Froguel,P., Matsuda,K.,
            McCarthy,M.I., Meisinger,C., Mooser,V., Pietilainen,K.H.,
            Schumann,G., Snieder,H., Sternberg,M.J., Stolk,R.P., Thomas,H.C.,
            Thorsteinsdottir,U., Uda,M., Waeber,G., Wareham,N.J.,
            Waterworth,D.M., Watkins,H., Whitfield,J.B., Witteman,J.C.,
            Wolffenbuttel,B.H., Fox,C.S., Ala-Korpela,M., Stefansson,K.,
            Vollenweider,P., Volzke,H., Schadt,E.E., Scott,J., Jarvelin,M.R.,
            Elliott,P. and Kooner,J.S.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure
            (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits
            Consortium (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2368)
  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   8  (bases 1 to 2368)
  AUTHORS   Liu,S., Huang,C., Li,D., Ren,W., Zhang,H., Qi,M., Li,X. and Yu,L.
  TITLE     Molecular cloning and expression analysis of a new gene for
            short-chain dehydrogenase/reductase 9
  JOURNAL   Acta Biochim Pol 54 (1), 213-218 (2007)
   PUBMED   17311113
  REMARK    GeneRIF: A new human short-chain dehydrogenase/reductase gene SCDR9
            is cloned and expressed.
REFERENCE   9  (bases 1 to 2368)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
REFERENCE   10 (bases 1 to 2368)
  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]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358575.1, AB073347.1 and AY186249.1.
            
            On Nov 22, 2018 this sequence version replaced NM_178135.4.
            
            Transcript Variant: This variant (A) represents the longer
            transcript and 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 :: AB073347.1, AY186249.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328546.5/ ENSP00000333300.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AY358575.1         25-31
            8-1893              AB073347.1         1-1886
            1894-2368           AY186249.1         1898-2372
FEATURES             Location/Qualifiers
     source          1..2368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..2368
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /note="hydroxysteroid 17-beta dehydrogenase 13"
                     /db_xref="GeneID:345275"
                     /db_xref="HGNC:HGNC:18685"
                     /db_xref="MIM:612127"
     exon            1..251
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..944
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.105"
                     /note="isoform A precursor is encoded by transcript
                     variant A; 17-beta-hydroxysteroid dehydrogenase 13;
                     17-beta hydroxysteroid dehydrogenase; short-chain
                     dehydrogenase/reductase 9; 17-beta-HSD 13; short chain
                     dehydrogenase/reductase family 16C member 3; hepatic
                     retinol/retinal dehydrogenase"
                     /codon_start=1
                     /product="17-beta-hydroxysteroid dehydrogenase 13 isoform
                     A precursor"
                     /protein_id="NP_835236.2"
                     /db_xref="CCDS:CCDS3618.1"
                     /db_xref="GeneID:345275"
                     /db_xref="HGNC:HGNC:18685"
                     /db_xref="MIM:612127"
                     /translation="MNIILEILLLLITIIYSYLESLVKFFIPQRRKSVAGEIVLITGA
                     GHGIGRQTTYEFAKRQSILVLWDINKRGVEETAAECRKLGVTAHAYVVDCSNREEIYR
                     SLNQVKKEVGDVTIVVNNAGTVYPADLLSTKDEEITKTFEVNILGHFWITKALLPSMM
                     ERNHGHIVTVASVCGHEGIPYLIPYCSSKFAAVGFHRGLTSELQALGKTGIKTSCLCP
                     VFVNTGFTKNPSTRLWPVLETDEVVRSLIDGILTNKKMIFVPSYINIFLRLQKFLPER
                     ASAILNRMQNIQFEAVVGHKIKMK"
     exon            252..359
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /inference="alignment:Splign:2.1.0"
     exon            360..491
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /inference="alignment:Splign:2.1.0"
     exon            492..598
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /inference="alignment:Splign:2.1.0"
     exon            599..736
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /inference="alignment:Splign:2.1.0"
     exon            737..853
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /inference="alignment:Splign:2.1.0"
     exon            854..2368
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2347..2352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /note="hexamer: AATAAA"
     polyA_site      2368
                     /gene="HSD17B13"
                     /gene_synonym="FLDP; HMFN0376; NIIL497; SCDR9; SDR16C3"
                     /note="major polyA site"
ORIGIN      
        1 acacaaggac tgaaccagaa ggaagaggac agagcaaagc catgaacatc atcctagaaa
       61 tccttctgct tctgatcacc atcatctact cctacttgga gtcgttggtg aagtttttca
      121 ttcctcagag gagaaaatct gtggctgggg agattgttct cattactgga gctgggcatg
      181 gaataggcag gcagactact tatgaatttg caaaacgaca gagcatattg gttctgtggg
      241 atattaataa gcgcggtgtg gaggaaactg cagctgagtg ccgaaaacta ggcgtcactg
      301 cgcatgcgta tgtggtagac tgcagcaaca gagaagagat ctatcgctct ctaaatcagg
      361 tgaagaaaga agtgggtgat gtaacaatcg tggtgaataa tgctgggaca gtatatccag
      421 ccgatcttct cagcaccaag gatgaagaga ttaccaagac atttgaggtc aacatcctag
      481 gacatttttg gatcacaaaa gcacttcttc catcgatgat ggagagaaat catggccaca
      541 tcgtcacagt ggcttcagtg tgcggccacg aagggattcc ttacctcatc ccatattgtt
      601 ccagcaaatt tgccgctgtt ggctttcaca gaggtctgac atcagaactt caggccttgg
      661 gaaaaactgg tatcaaaacc tcatgtctct gcccagtttt tgtgaatact gggttcacca
      721 aaaatccaag cacaagatta tggcctgtat tggagacaga tgaagtcgta agaagtctga
      781 tagatggaat acttaccaat aagaaaatga tttttgttcc atcgtatatc aatatctttc
      841 tgagactaca gaagtttctt cctgaacgcg cctcagcgat tttaaatcgt atgcagaata
      901 ttcaatttga agcagtggtt ggccacaaaa tcaaaatgaa atgaataaat aagctccagc
      961 cagagatgta tgcatgataa tgatatgaat agtttcgaat caatgctgca aagctttatt
     1021 tcacattttt tcagtcctga taatattaaa aacattggtt tggcactagc agcagtcaaa
     1081 cgaacaagat taattacctg tcttcctgtt tctcaagaat atttacgtag tttttcatag
     1141 gtctgttttt cctttcatgc ctcttaaaaa cttctgtgct tacataaaca tacttaaaag
     1201 gttttcttta agatatttta tttttccatt taaaggtgga caaaagctac ctccctaaaa
     1261 gtaaatacaa agagaactta tttacacagg gaaggtttaa gactgttcaa gtagcattcc
     1321 aatctgtagc catgccacag aatatcaaca agaacacaga atgagtgcac agctaagaga
     1381 tcaagtttca gcaggcagct ttatctcaac ctggacatat tttaagattc agcatttgaa
     1441 agatttccct agcctcttcc tttttcatta gcccaaaacg gtgcaactct attctggact
     1501 ttattacttg attctgtctt ctgtataact ctgaagtcca ccaaaagtgg accctctata
     1561 tttcctccct ttttatagtc ttataagata cattatgaaa ggtgaccgac tctattttaa
     1621 atctcagaat tttaagttct agccccatga taaccttttt ctttgtaatt tatgctttca
     1681 tatatccttg gtcccagaga tgtttagaca attttaggct caaaaattaa agctaacaca
     1741 ggaaaaggaa ctgtactggc tattacataa gaaacaatgg acccaagaga agaaaaggaa
     1801 gaaagaaagg ttttttggtt tttgttttgt tttgttttgt tttttgtttt tttgagatgg
     1861 agtctcactc tttcgcccag gctggagtgc agtggtatga tctcagctca ctgcaagctc
     1921 cacctcccgg gttcacgcca ttctcctgcc tcagcctcct gagtagctgg gactacaggc
     1981 gcccgccacc acacccggct aattttttgt attttttgta gagacggggt ttcaccatgt
     2041 tagccaagat ggtctcgatc tcctgacctc gtgatccacc tgcctcggcc tcccaaagtg
     2101 ctgggattac gggtgtgagc caccgtgccc agcctttttt tttttaatag aaaaaataat
     2161 ccgactccca ctacatcaag actaatcttg ttttgtgtgt ttttcacatg tattatagaa
     2221 tgcttttgca tggactatcc tcttgttttt attaaaaaca aatgattttt ttaaaagtca
     2281 caaaaacaat tcactaaaaa taaatatgtc attgtgcttt aaaaaaataa cctcttgtag
     2341 ttataaaata aaacgtttga cttctaaa
//
