LOCUS       NM_203314               3527 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens 3-hydroxybutyrate dehydrogenase 1 (BDH1), transcript
            variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_203314
VERSION     NM_203314.3
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 3527)
  AUTHORS   Lin,J., Ren,Q., Zhang,F., Gui,J., Xiang,X. and Wan,Q.
  TITLE     D-beta-Hydroxybutyrate Dehydrogenase Mitigates Diabetes-Induced
            Atherosclerosis through the Activation of Nrf2
  JOURNAL   Thromb Haemost 123 (10), 1003-1015 (2023)
   PUBMED   37399841
  REMARK    GeneRIF: D-beta-Hydroxybutyrate Dehydrogenase Mitigates
            Diabetes-Induced Atherosclerosis through the Activation of Nrf2.
REFERENCE   2  (bases 1 to 3527)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 3527)
  AUTHORS   Liu,Z., Li,Y., Liu,Y., Yang,D., Jiao,Y. and Liu,Y.
  TITLE     Expression and clinical significance of BDH1 in liver cancer
  JOURNAL   Medicine (Baltimore) 100 (48), e28013 (2021)
   PUBMED   35049211
  REMARK    GeneRIF: Expression and clinical significance of BDH1 in liver
            cancer.
REFERENCE   4  (bases 1 to 3527)
  AUTHORS   Zhang,H., Chang,Z., Qin,L.N., Liang,B., Han,J.X., Qiao,K.L.,
            Yang,C., Liu,Y.R., Zhou,H.G. and Sun,T.
  TITLE     MTA2 triggered R-loop trans-regulates BDH1-mediated
            beta-hydroxybutyrylation and potentiates propagation of
            hepatocellular carcinoma stem cells
  JOURNAL   Signal Transduct Target Ther 6 (1), 135 (2021)
   PUBMED   33795651
  REMARK    GeneRIF: MTA2 triggered R-loop trans-regulates BDH1-mediated
            beta-hydroxybutyrylation and potentiates propagation of
            hepatocellular carcinoma stem cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3527)
  AUTHORS   Maurer,G.D., Brucker,D.P., Bahr,O., Harter,P.N., Hattingen,E.,
            Walenta,S., Mueller-Klieser,W., Steinbach,J.P. and Rieger,J.
  TITLE     Differential utilization of ketone bodies by neurons and glioma
            cell lines: a rationale for ketogenic diet as experimental glioma
            therapy
  JOURNAL   BMC Cancer 11, 315 (2011)
   PUBMED   21791085
  REMARK    GeneRIF: Data show that the ketone body metabolizing enzymes BDH1,
            BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level
            in all glioma cell lines.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3527)
  AUTHORS   Chelius,D., Loeb-Hennard,C., Fleischer,S., McIntyre,J.O.,
            Marks,A.R., De,S., Hahn,S., Jehl,M.M., Moeller,J., Philipp,R.,
            Wise,J.G. and Trommer,W.E.
  TITLE     Phosphatidylcholine activation of human heart (R)-3-hydroxybutyrate
            dehydrogenase mutants lacking active center sulfhydryls:
            site-directed mutagenesis of a new recombinant fusion protein
  JOURNAL   Biochemistry 39 (32), 9687-9697 (2000)
   PUBMED   10933785
REFERENCE   7  (bases 1 to 3527)
  AUTHORS   Green,D., Marks,A.R., Fleischer,S. and McIntyre,J.O.
  TITLE     Wild type and mutant human heart (R)-3-hydroxybutyrate
            dehydrogenase expressed in insect cells
  JOURNAL   Biochemistry 35 (25), 8158-8165 (1996)
   PUBMED   8679568
REFERENCE   8  (bases 1 to 3527)
  AUTHORS   Langston,H.P., Jones,L., Churchill,S. and Churchill,P.F.
  TITLE     Purification and characterization of a (R)-3-hydroxybutyrate
            dehydrogenase deletion mutant. Evidence for C-terminal involvement
            in enzyme activation by lecithin
  JOURNAL   Arch Biochem Biophys 327 (1), 45-52 (1996)
   PUBMED   8615695
REFERENCE   9  (bases 1 to 3527)
  AUTHORS   Adami,P., Duncan,T.M., McIntyre,J.O., Carter,C.E., Fu,C., Melin,M.,
            Latruffe,N. and Fleischer,S.
  TITLE     Monoclonal antibodies for structure-function studies of
            (R)-3-hydroxybutyrate dehydrogenase, a lipid-dependent
            membrane-bound enzyme
  JOURNAL   Biochem J 292 (Pt 3) (Pt 3), 863-872 (1993)
   PUBMED   7686368
REFERENCE   10 (bases 1 to 3527)
  AUTHORS   Marks,A.R., McIntyre,J.O., Duncan,T.M., Erdjument-Bromage,H.,
            Tempst,P. and Fleischer,S.
  TITLE     Molecular cloning and characterization of (R)-3-hydroxybutyrate
            dehydrogenase from human heart
  JOURNAL   J Biol Chem 267 (22), 15459-15463 (1992)
   PUBMED   1639787
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC128709.6 and BC005844.2.
            
            On Nov 22, 2018 this sequence version replaced NM_203314.2.
            
            Summary: This gene encodes a member of the short-chain
            dehydrogenase/reductase gene family. The encoded protein forms a
            homotetrameric lipid-requiring enzyme of the mitochondrial membrane
            and has a specific requirement for phosphatidylcholine for optimal
            enzymatic activity. The encoded protein catalyzes the
            interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two
            major ketone bodies produced during fatty acid catabolism.
            Alternatively spliced transcript variants encoding the same protein
            have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) includes an additional exon in
            the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the
            same protein.
            
            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 :: SRR11853563.24779.1,
                                           SRR11853565.21620.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000392379.6/
                                                  ENSP00000376184.1
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-188               AC128709.6         2915-3102
            189-340             AC128709.6         4170-4321
            341-1736            BC005844.2         172-1567
            1737-3527           AC128709.6         47310-49100
FEATURES             Location/Qualifiers
     source          1..3527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     gene            1..3527
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /note="3-hydroxybutyrate dehydrogenase 1"
                     /db_xref="GeneID:622"
                     /db_xref="HGNC:HGNC:1027"
                     /db_xref="MIM:603063"
     exon            1..188
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     exon            189..340
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     exon            341..466
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             384..1415
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /EC_number="1.1.1.30"
                     /note="(R)-3-hydroxybutyrate dehydrogenase;
                     3-hydroxybutyrate dehydrogenase, type 1; 3-hydroxybutyrate
                     dehydrogenase (heart, mitochondrial);
                     D-beta-hydroxybutyrate dehydrogenase, mitochondrial; short
                     chain dehydrogenase/reductase family 9C member 1;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="D-beta-hydroxybutyrate dehydrogenase,
                     mitochondrial precursor"
                     /protein_id="NP_976059.1"
                     /db_xref="CCDS:CCDS3328.1"
                     /db_xref="GeneID:622"
                     /db_xref="HGNC:HGNC:1027"
                     /db_xref="MIM:603063"
                     /translation="MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRR
                     TYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSL
                     NSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLET
                     YKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAF
                     SDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKY
                     FDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPG
                     AISDMIYIR"
     exon            467..539
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     exon            540..650
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     exon            651..792
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     exon            793..945
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     exon            946..3527
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1708..1713
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /note="hexamer: ATTAAA"
     polyA_site      1736
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /note="major polyA site"
     regulatory      3508..3513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /note="hexamer: ATTAAA"
     polyA_site      3527
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
ORIGIN      
        1 gtagaagcgt ccgggtggcg gaggccgcag gccgcaggag tgctggtgga ggggcttcca
       61 gaaagaccct gcggcagcgc cccccctcgg ctctccccgc aggagagcgg gcacctgcgc
      121 ggcgccgggt gaaggcgaga gcctcggcga gccctctgca gcggagcccc ctgcccattt
      181 ggttttggcc agtcagcctg gaaatctgcc tgtagtcagc tgatgcagag tcaccctgca
      241 gttcctactt tgaggggttg cagaagcaca tatttcacta tggagggccg cctgcaggcc
      301 tcgcgctgac aggatctttt gtgacgctgc aaatgtcctg aaccaccggg aggaactggg
      361 ccattctaac acccgttgct accatgctgg ccacccgcct ctccagaccc ctgtcacggc
      421 tcccaggaaa aaccctaagt gcctgtgata gagaaaatgg agcaagacgc ccactattgc
      481 ttggttctac ttcctttatc ccgattggcc gtcggactta tgccagtgcg gcggagccgg
      541 ttggcagcaa agctgtcctg gtcacaggct gtgactctgg atttgggttc tcattggcca
      601 agcatctgca ttcaaaaggc ttccttgtgt ttgctggctg cttgatgaag gacaaaggcc
      661 atgatggggt caaggagctg gacagcctaa acagtgaccg attgagaacc gtccagctca
      721 atgtctgcag cagcgaagag gtggagaaag tggtggagat tgtccgctcg agcctgaagg
      781 accctgagaa aggcatgtgg ggcctcgtta acaatgccgg catctcaacg ttcggggagg
      841 tggagttcac cagcctggag acctacaagc aggtggcaga agtgaacctt tggggcacag
      901 tgcggatgac gaaatccttt ctccccctca tccgaagggc caaaggccgc gtcgtcaata
      961 tcagcagcat gctgggccgc atggccaacc cggcccgctc cccgtactgc atcaccaagt
     1021 tcggggtaga ggctttctcg gactgcctgc gctatgagat gtaccccctg ggcgtgaagg
     1081 tcagcgtggt ggagcccggc aacttcatcg ctgccaccag cctttacagc cctgagagca
     1141 ttcaggccat cgccaagaag atgtgggagg agctgcctga ggtcgtgcgc aaggactacg
     1201 gcaagaagta ctttgatgaa aagatcgcca agatggagac ctactgcagc agtggctcca
     1261 cagacacgtc ccctgtcatc gatgctgtca cacacgccct gaccgccacc accccctaca
     1321 cccgctacca ccccatggac tactactggt ggctgcgaat gcagatcatg acccacttgc
     1381 ctggagccat ctccgacatg atctacatcc gctgaagagt ctcgctgtgg cctctgtcag
     1441 ggatccctgg tggaagggga ggggagggag gaacccatat agtcaactct tgattatcca
     1501 cgtgtggatt atccaccatg ccaggaagac ccataactgg ttttaacact aactagaggg
     1561 aatgacttct ttgcatagtg agtgacttgg gccttcacaa acagggtgtg gagtggcagg
     1621 cagaggcctc taaatctcag ggcaaacatg gtgaatctat ctctccggag ataatttcat
     1681 acagagattt taagaaaaca tctttatatt aaaaacagat ctcatttgat ccttaagcca
     1741 gtctcatgaa tgaaaaggac aggttttttt cttttgtaaa tgaagcattt gcagcttaaa
     1801 gaggatgcat gaaataaccc ttttatcgct tataaatagt gccagttatg tgttcctgcc
     1861 acggctgtgg aaatacttca catttgcatt ccaggactgt tttggatcca tttgcccgag
     1921 aatcttctga ctaactctgt gtcctcatct gggcagcaca caccaagtgc ccactggtac
     1981 ctctgcatgt ccatggtgct gtgtgactgg ccagccagca gccagtgact cagagctggc
     2041 tgtatggagg gggtgggaat gtttctggag atttttgttt ttccagacac agtcttgctc
     2101 agtcccctag gctggagtgc aatggcacca tctccgctca ctgcaacctc cgcctccctg
     2161 gttcaagcgg ttctcctgcc tcagccttcc aagtagctgg ggttataggc acccaccacc
     2221 atgccgggct aatttttgta tttttagtag agatggggtt tcaccatgtt ggctaggctg
     2281 gtcccgaact cccgacttca agtgatccgc ctgccttggc ctcccaaagt gctgggatta
     2341 caggcatgag atttttactt gagatttttc catcctcttt taggactcag gatagacttg
     2401 tgtggaggtg ctctctggct aaggggataa gttgttactg gtttgggtct gcttggtttt
     2461 gccttgggtg gggccggtgt cgatggggca ggcttggcac gagcagtggt gccatggcag
     2521 ggcactgtgg catctcccct agcagtggat ttggggtccc tgcttgcctc acgtggtgct
     2581 tacacacatg tacacacaca cacacacaca cacacacaca cacaccttac acacatgtac
     2641 acacacacac acacacacac acacacacac acacacacac acacacacac acacacacac
     2701 acacacacac ccctgttctg cagggcttca gcgtggcctt cattcccgcc tcgcctcggc
     2761 ctcttttcaa ttaagaagtg atgccacttg aggcagggtc tgcatgatca cttcttgggt
     2821 ttcagtttga aagctgccat ccctgcgact gcccagggcc tgtatgttgg gaccgaagcc
     2881 aaacaccact gtcctccagg gggctttcgg cccggggcag ggtccccagt gcccgccttc
     2941 gaatcagact ccgcgtttcc gcctctccct gggcggacct gccgctagag ggcgctcctc
     3001 ctccgcagcc ggcgccggcc tccagcgccc cagactcccg cgctgccgcc cgagcctgag
     3061 gtttctcacg gcgttcggga ttcgcgcttc ggaaaccggg aacaaagaag caagcagcac
     3121 ccttcagaaa cagtgttctc gctctcctag cagctggccc gggcccggag gctggtgcca
     3181 ggagaaggca gaagagcccg ggcagccgga gtgggctacg gggttcaggc agtgccaagg
     3241 aagaagggcc tcacaatggg caattcagct gcctcccggg ccgttgtccc cgctgtcttc
     3301 aaacaggggt cccctgtccc agctgcccca ggaggagggg gggaggcagg cagggccgaa
     3361 accctccaga gcccagaggg ggacgcttgg tggccgctgc agttacataa ccataggatg
     3421 cttttgtacc gtggaccttg ttctagcagg atcctttcgg aattgcactt ttacatgttg
     3481 ggcgaatttg tgtccgtgct gaagtttatt aaaggaaaat agatgga
//
