LOCUS       NM_016142               2396 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 12 (HSD17B12),
            mRNA.
ACCESSION   NM_016142
VERSION     NM_016142.3
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 2396)
  AUTHORS   Liu,H., Li,G., Sturgis,E.M., Shete,S., Dahlstrom,K.R., Du,M.,
            Amos,C.I., Christiani,D.C., Lazarus,P. and Wei,Q.
  TITLE     Genetic variants in CYP2B6 and HSD17B12 associated with risk of
            squamous cell carcinoma of the head and neck
  JOURNAL   Int J Cancer 151 (4), 553-564 (2022)
   PUBMED   35404482
  REMARK    GeneRIF: Genetic variants in CYP2B6 and HSD17B12 associated with
            risk of squamous cell carcinoma of the head and neck.
REFERENCE   2  (bases 1 to 2396)
  AUTHORS   Salokas,K., Liu,X., Ohman,T., Chowdhury,I., Gawriyski,L.,
            Keskitalo,S. and Varjosalo,M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (bases 1 to 2396)
  AUTHORS   Lee,O., Fought,A.J., Shidfar,A., Heinz,R.E., Kmiecik,T.E.,
            Gann,P.H., Khan,S.A. and Chatterton,R.T.
  TITLE     Association of genetic polymorphisms with local steroid metabolism
            in human benign breasts
  JOURNAL   Steroids 177, 108937 (2022)
   PUBMED   34762930
  REMARK    GeneRIF: Association of genetic polymorphisms with local steroid
            metabolism in human benign breasts.
REFERENCE   4  (bases 1 to 2396)
  AUTHORS   Lin,Y., Meng,Y., Zhang,J., Ma,L., Jiang,L., Zhang,Y., Yuan,M.,
            Ren,A., Zhu,W., Li,S., Shu,Y., Du,M. and Zhu,L.
  TITLE     Functional genetic variant of HSD17B12 in the fatty acid
            biosynthesis pathway predicts the outcome of colorectal cancer
  JOURNAL   J Cell Mol Med 24 (24), 14160-14170 (2020)
   PUBMED   33118286
  REMARK    GeneRIF: Functional genetic variant of HSD17B12 in the fatty acid
            biosynthesis pathway predicts the outcome of colorectal cancer.
REFERENCE   5  (bases 1 to 2396)
  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   6  (bases 1 to 2396)
  AUTHORS   Sakurai,N., Miki,Y., Suzuki,T., Watanabe,K., Narita,T., Ando,K.,
            Yung,T.M., Aoki,D., Sasano,H. and Handa,H.
  TITLE     Systemic distribution and tissue localizations of human
            17beta-hydroxysteroid dehydrogenase type 12
  JOURNAL   J Steroid Biochem Mol Biol 99 (4-5), 174-181 (2006)
   PUBMED   16621523
  REMARK    GeneRIF: Location of 17beta-hydroxysteroid dehydrogenase type 12
            through the human body.
REFERENCE   7  (bases 1 to 2396)
  AUTHORS   Luu-The,V., Tremblay,P. and Labrie,F.
  TITLE     Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an
            isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible
            for estradiol formation in women
  JOURNAL   Mol Endocrinol 20 (2), 437-443 (2006)
   PUBMED   16166196
  REMARK    GeneRIF: 17beta-HSD12 is the major estrogenic 17beta-HSD
            responsible for the conversion of E1 to E2 in women.
REFERENCE   8  (bases 1 to 2396)
  AUTHORS   Gnatenko,D.V., Cupit,L.D., Huang,E.C., Dhundale,A., Perrotta,P.L.
            and Bahou,W.F.
  TITLE     Platelets express steroidogenic 17beta-hydroxysteroid
            dehydrogenases. Distinct profiles predict the essential
            thrombocythemic phenotype
  JOURNAL   Thromb Haemost 94 (2), 412-421 (2005)
   PUBMED   16113833
REFERENCE   9  (bases 1 to 2396)
  AUTHORS   Moon,Y.A. and Horton,J.D.
  TITLE     Identification of two mammalian reductases involved in the
            two-carbon fatty acyl elongation cascade
  JOURNAL   J Biol Chem 278 (9), 7335-7343 (2003)
   PUBMED   12482854
REFERENCE   10 (bases 1 to 2396)
  AUTHORS   Lehner,R. and Kuksis,A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP359822.1, AF078850.1 and BC012043.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016142.2.
            
            Summary: This gene encodes a very important 17beta-hydroxysteroid
            dehydrogenase (17beta-HSD) that converts estrone into estradiol in
            ovarian tissue. This enzyme is also involved in fatty acid
            elongation. [provided by RefSeq, Oct 2011].
            
            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 :: SRR1803613.63897.1,
                                           SRR1660803.120482.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278353.10/ ENSP00000278353.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               BP359822.1         146-395
            251-924             AF078850.1         234-907
            925-2396            BC012043.1         893-2364
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..2396
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /note="hydroxysteroid 17-beta dehydrogenase 12"
                     /db_xref="GeneID:51144"
                     /db_xref="HGNC:HGNC:18646"
                     /db_xref="MIM:609574"
     exon            1..250
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..1029
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.330"
                     /note="3-ketoacyl-CoA reductase; steroid dehydrogenase
                     homolog; estradiol 17-beta-dehydrogenase 12; 17beta-HSD
                     type 12; 17-beta-HSD 12; 17-beta-hydroxysteroid
                     dehydrogenase 12; short chain dehydrogenase/reductase
                     family 12C member 1"
                     /codon_start=1
                     /product="very-long-chain 3-oxoacyl-CoA reductase"
                     /protein_id="NP_057226.1"
                     /db_xref="CCDS:CCDS7905.1"
                     /db_xref="GeneID:51144"
                     /db_xref="HGNC:HGNC:18646"
                     /db_xref="MIM:609574"
                     /translation="MESALPAAGFLYWVGAGTVAYLALRISYSLFTALRVWGVGNEAG
                     VGPGLGEWAVVTGSTDGIGKSYAEELAKHGMKVVLISRSKDKLDQVSSEIKEKFKVET
                     RTIAVDFASEDIYDKIKTGLAGLEIGILVNNVGMSYEYPEYFLDVPDLDNVIKKMINI
                     NILSVCKMTQLVLPGMVERSKGAILNISSGSGMLPVPLLTIYSATKTFVDFFSQCLHE
                     EYRSKGVFVQSVLPYFVATKLAKIRKPTLDKPSPETFVKSAIKTVGLQSRTNGYLIHA
                     LMGSIISNLPSWIYLKIVMNMNKSTRAHYLKKTKKN"
     exon            251..297
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            298..373
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            374..481
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            482..546
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            547..591
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            592..626
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            627..708
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            709..774
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            775..924
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     exon            925..2396
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2376..2381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /note="hexamer: AATATA"
     polyA_site      2396
                     /gene="HSD17B12"
                     /gene_synonym="KAR; SDR12C1"
                     /note="major polyA site"
ORIGIN      
        1 gtcatcctca ccgtcacggc cggcgcctcc tcctggattc attcactcgc tcttttcatt
       61 cacgaaggta gtgaggccta gtggaaagcc atggagagcg ctctccccgc cgccggcttc
      121 ctgtactggg tcggcgcggg caccgtggcc tacctagccc tgcgtatttc gtactcgctc
      181 ttcacggccc tccgggtctg gggagtgggg aatgaggcgg gggtcggccc ggggctcgga
      241 gaatgggcag ttgtcacagg tagtactgat ggaattggaa aatcatatgc agaagagtta
      301 gcaaagcatg gaatgaaggt tgtccttatc agcagatcaa aggataaact tgaccaggtt
      361 tccagtgaaa taaaagaaaa attcaaagtg gagacaagaa ccattgctgt tgactttgca
      421 tcagaagata tttatgataa aattaaaaca ggcttggctg gtcttgaaat cggcatctta
      481 gtgaacaacg tgggaatgtc gtatgagtat cctgaatact ttttggatgt tcctgacttg
      541 gacaatgtga tcaagaaaat gataaatatt aatattcttt ctgtttgtaa gatgacacaa
      601 ttggtactgc ctggcatggt ggaaagatcc aaaggggcta ttctgaacat ttcatctggc
      661 agtggcatgc tccctgtccc actcttgacc atctattctg caaccaagac ttttgtagat
      721 ttcttctctc agtgcctcca tgaggagtat aggagcaagg gcgtctttgt gcagagtgtc
      781 ctgccatact tcgtagctac aaaactggct aaaatccgga agccaacttt ggataagccc
      841 tctccggaga cgtttgtgaa gtctgcaatt aaaacagtcg gcctgcaatc ccgaaccaat
      901 ggatacctga tccatgctct tatgggctcg ataatctcaa acctgccttc ttggatttat
      961 ttgaaaatag tcatgaatat gaacaagtct acacgggctc actatctgaa gaaaaccaag
     1021 aagaactaag cattgataac tgcattgtaa cttggccaga tgctccagca tatgcacgtt
     1081 cactgcaaag caccctactg gttttgaaaa tctgaccttg tcatttcaat agttattaac
     1141 atgactaaat attatcttaa ttaagaggaa aatagaagtt gcttttaggg gtttctgaca
     1201 tatattctgg atactatccg aggtaatttt gaagtttaat ataaatgctc atatcaaatg
     1261 aatatagaac taatattgtc gggaacacct aatagaaagg aatactatta tagcaaatca
     1321 cagaatgata gactcaagca taaaacttgg cagttttatc tgcttcaaaa tgccattgat
     1381 cattattcct gtattttctc tgaaactgat tataaaaacc aatgtccagc tactcttttg
     1441 tttttgacac ttgaagaaat ggagatcgat ttgatttgtt tataagcaga cacactgcaa
     1501 tttacaaaga tctctttacg gttttataaa attatcttcc agtttgtaca tttatatgga
     1561 attgttcttt atcaagggta gctaatgaca tgaaaataat tgtgaaatat ggaattattt
     1621 ctgacacatg aagcccacta aactatgctt tcttataatg catatttctt ctcagtttaa
     1681 atgtatgtaa atatcgaagc tatatggtat gatttataaa gataaatggg ccaaagtgta
     1741 cattgagact ggcagccatc tatggtacca ctgaaaccct gacccagaaa agtggcttgc
     1801 ttggacaccc agctgccttt gtttctgcat taaaccaata ttgatcacac atatgacaca
     1861 ggctagtcct ataaaagtaa tgacttcata gaaatggcat tataattttt aagttgatac
     1921 tctacaggta gctattgata taattagttt taataaaaca tgctgcaacc atggtataca
     1981 acaaaaatac atttctttgg tgattgaaat taaggccgta tttacaatga cttaatataa
     2041 gactgacttt tatcctgctt cataacttgt atggagaact caccaagaaa gaattcaata
     2101 ctgtgaaata tgcagcaaga agattggtct ttacctaggc tgtgtttcct aagctctgag
     2161 ttttcagcac cagtagattt gtattaaaag aaaaaaaaat ggggccttag cttctggctt
     2221 ttaattttgc cagctaagga cataaaacaa aaataaacaa acaaaaacaa atagccatct
     2281 gctatcagca tcattatgta aaagaaaata tattttagcc cctaaaatta ggaagaatgt
     2341 aatctcagaa taaaggttgt catttaagtt gaataaatat atagctttat gaaaaa
//
