LOCUS       NM_153486               2076 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens lactate dehydrogenase D (LDHD), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_153486
VERSION     NM_153486.4
KEYWORDS    RefSeq.
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 2076)
  AUTHORS   Wang,S., Wu,X., Wu,X., Cheng,J., Chen,Q. and Qi,Z.
  TITLE     Systematic analysis of the role of LDHs subtype in pan-cancer
            demonstrates the importance of LDHD in the prognosis of
            hepatocellular carcinoma patients
  JOURNAL   BMC Cancer 24 (1), 156 (2024)
   PUBMED   38291366
  REMARK    GeneRIF: Systematic analysis of the role of LDHs subtype in
            pan-cancer demonstrates the importance of LDHD in the prognosis of
            hepatocellular carcinoma patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2076)
  AUTHORS   Bardin,T., Ducrot,Y.M., Nguyen,Q., Letavernier,E., Zaworski,J.,
            Ea,H.K., Touzain,F., Do,M.D., Colot,J., Barguil,Y., Biron,A.,
            Resche-Rigon,M., Richette,P. and Collet,C.
  TITLE     Early-onset gout and rare deficient variants of the lactate
            dehydrogenase D gene
  JOURNAL   Rheumatology (Oxford) 62 (12), 3978-3983 (2023)
   PUBMED   37021930
  REMARK    GeneRIF: Early-onset gout and rare deficient variants of the
            lactate dehydrogenase D gene.
REFERENCE   3  (bases 1 to 2076)
  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   4  (bases 1 to 2076)
  AUTHORS   Chen,L., Wu,Q., Xu,X., Yang,C., You,J., Chen,F. and Zeng,Y.
  TITLE     Cancer/testis antigen LDHC promotes proliferation and metastasis by
            activating the PI3K/Akt/GSK-3beta-signaling pathway and the in lung
            adenocarcinoma
  JOURNAL   Exp Cell Res 398 (2), 112414 (2021)
   PUBMED   33301764
  REMARK    GeneRIF: Cancer/testis antigen LDHC promotes proliferation and
            metastasis by activating the PI3K/Akt/GSK-3beta-signaling pathway
            and the in lung adenocarcinoma.
REFERENCE   5  (bases 1 to 2076)
  AUTHORS   Drabkin,M., Yogev,Y., Zeller,L., Zarivach,R., Zalk,R., Halperin,D.,
            Wormser,O., Gurevich,E., Landau,D., Kadir,R., Perez,Y. and
            Birk,O.S.
  TITLE     Hyperuricemia and gout caused by missense mutation in d-lactate
            dehydrogenase
  JOURNAL   J Clin Invest 129 (12), 5163-5168 (2019)
   PUBMED   31638601
  REMARK    GeneRIF: gout can be caused by a mutation in LDHD within the
            putative catalytic site of the encoded d-lactate dehydrogenase,
            resulting in augmented blood levels of d-lactate, a stereoisomer of
            l-lactate
REFERENCE   6  (bases 1 to 2076)
  AUTHORS   de Bari,L., Moro,L. and Passarella,S.
  TITLE     Prostate cancer cells metabolize d-lactate inside mitochondria via
            a D-lactate dehydrogenase which is more active and highly expressed
            than in normal cells
  JOURNAL   FEBS Lett 587 (5), 467-473 (2013)
   PUBMED   23333299
  REMARK    GeneRIF: The activity and expression of the mitochondrial D-lactate
            dehydrogenase, is higher in prostate cancer versus normal prostate
            cells.
REFERENCE   7  (bases 1 to 2076)
  AUTHORS   Whyte,M.P., Kempa,L.G., McAlister,W.H., Zhang,F., Mumm,S. and
            Wenkert,D.
  TITLE     Elevated serum lactate dehydrogenase isoenzymes and aspartate
            transaminase distinguish Albers-Schonberg disease (Chloride Channel
            7 Deficiency Osteopetrosis) among the sclerosing bone disorders
  JOURNAL   J Bone Miner Res 25 (11), 2515-2526 (2010)
   PUBMED   20499337
  REMARK    GeneRIF: Elevated serum LDH isoenzymes and AST indicate a
            disturbance (of uncertain clinical significance) within multiple
            extraosseous tissues when there is CLCN7 deficiency.
REFERENCE   8  (bases 1 to 2076)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2076)
  AUTHORS   Dastani,Z., Pajukanta,P., Marcil,M., Rudzicz,N., Ruel,I.,
            Bailey,S.D., Lee,J.C., Lemire,M., Faith,J., Platko,J., Rioux,J.,
            Hudson,T.J., Gaudet,D., Engert,J.C. and Genest,J.
  TITLE     Fine mapping and association studies of a high-density lipoprotein
            cholesterol linkage region on chromosome 16 in French-Canadian
            subjects
  JOURNAL   Eur J Hum Genet 18 (3), 342-347 (2010)
   PUBMED   19844255
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2076)
  AUTHORS   Flick,M.J. and Konieczny,S.F.
  TITLE     Identification of putative mammalian D-lactate dehydrogenase
            enzymes
  JOURNAL   Biochem Biophys Res Commun 295 (4), 910-916 (2002)
   PUBMED   12127981
  REMARK    GeneRIF: identification and characterization of human and mouse
            D-lactate dehydrogenase (NAD) [D-LDH]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099508.3 and BC040279.1.
            
            On Aug 13, 2020 this sequence version replaced NM_153486.3.
            
            Summary: The protein encoded by this gene belongs to the D-isomer
            specific 2-hydroxyacid dehydrogenase family. The similar protein in
            yeast has both D-lactate and D-glycerate dehydrogenase activities.
            Alternative splicing occurs at this locus and two transcript
            variants encoding distinct isoforms have been identified. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC040279.1, SRR11853565.11501.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AC099508.3         109219-109261       c
            44-2076             BC040279.1         1-2033
FEATURES             Location/Qualifiers
     source          1..2076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..2076
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="lactate dehydrogenase D"
                     /db_xref="GeneID:197257"
                     /db_xref="HGNC:HGNC:19708"
                     /db_xref="MIM:607490"
     exon            1..132
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1584
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /EC_number="1.1.2.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; D-lactate dehydrogenase; probable D-lactate
                     dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="probable D-lactate dehydrogenase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_705690.2"
                     /db_xref="CCDS:CCDS10913.1"
                     /db_xref="GeneID:197257"
                     /db_xref="HGNC:HGNC:19708"
                     /db_xref="MIM:607490"
                     /translation="MARLLRSATWELFPWRGYCSQKAKGELCRDFVEALKAVVGGSHV
                     STAAVVREQHGRDESVHRCEPPDAVVWPQNVEQVSRLAALCYRQGVPIIPFGTGTGLE
                     GGVCAVQGGVCVNLTHMDRILELNQEDFSVVVEPGVTRKALNAHLRDSGLWFPVDPGA
                     DASLCGMAATGASGTNAVRYGTMRDNVLNLEVVLPDGRLLHTAGRGRHFRFGFWPEIP
                     HHTAWYSPCVSLGRRKSAAGYNLTGLFVGSEGTLGLITATTLRLHPAPEATVAATCAF
                     PSVQAAVDSTVHILQAAVPVARIEFLDEVMMDACNRYSKLNCLVAPTLFLEFHGSQQA
                     LEEQLQRTEEIVQQNGASDFSWAKEAEERSRLWTARHNAWYAALATRPGCKGYSTDVC
                     VPISRLPEIVVQTKEDLNASGLTGSIVGHVGDGNFHCILLVNPDDAEELGRVKAFAEQ
                     LGRRALALHGTCTGEHGIGMGKRQLLQEEVGAVGVETMRQLKAVLDPQGLMNPGKVL"
     exon            133..245
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            246..387
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            388..529
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            530..689
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            690..958
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1087
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1215
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1306
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1418
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1419..2076
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1801..1806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="hexamer: AGTAAA"
     polyA_site      1830
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="major polyA site"
     regulatory      2054..2059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="hexamer: AATAAA"
     polyA_site      2076
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="major polyA site"
ORIGIN      
        1 acagtagctg actggtcacc ctgccaccca gtgctcacac cctctggcca gtgcctggct
       61 atggcccgac tgctcaggtc tgcaacctgg gagctgttcc cctggagggg ctactgctcc
      121 cagaaggcaa agggagagct ctgcagggac ttcgtagagg ctctgaaggc cgtggtgggc
      181 ggctcccacg tgtccactgc cgcggtggtc cgagagcagc acgggcgcga tgagtcggtg
      241 cacaggtgcg aacctcctga tgctgtggtg tggccccaga acgtggagca ggtcagccgg
      301 ctggcagccc tgtgctatcg ccaaggtgtg cccatcatcc cattcggcac cggcaccggg
      361 cttgagggtg gcgtctgtgc tgtgcagggc ggcgtctgcg ttaacctgac gcatatggac
      421 cgaatcctgg agctgaacca ggaggacttc tctgtggtgg tggagccagg tgtcacccgc
      481 aaagccctca acgcccacct gcgggacagc ggcctctggt ttcccgtgga cccaggcgcg
      541 gacgcctctc tctgtggcat ggcggccacc ggggcgtcgg ggaccaacgc ggtccgctac
      601 ggcaccatgc gggacaacgt gctcaacctg gaggtggtgc tgcccgacgg gcggctgctg
      661 cacacggcgg gccgaggccg gcatttccgc ttcggcttct ggccagaaat ccctcatcac
      721 acagcctggt actcaccttg tgtgtccctg ggacgtagga agagtgcagc cggctacaac
      781 ctcacggggc tcttcgtggg ctccgagggg acgctgggcc tcatcacagc caccaccctg
      841 cgcctgcacc ctgcccctga ggccacagtg gccgccacgt gtgcgttccc cagtgtccag
      901 gctgctgtgg acagcactgt acacatcctc caggctgcag tgcccgtagc ccgcattgag
      961 ttcctggatg aagtcatgat ggatgcctgc aacaggtaca gcaagctgaa ttgcttagtg
     1021 gcgcccacac tcttcctgga gttccatggc tcccagcagg cactggagga gcagctgcag
     1081 cgcacagagg agatagtcca gcagaacgga gcctctgact tctcctgggc caaggaggcc
     1141 gaggagcgca gccggctttg gacagcacgg cacaatgcct ggtacgcagc cctggccacg
     1201 cggccaggct gcaagggcta ctccacggat gtgtgtgtgc ccatctcccg gctgccggag
     1261 atcgtggtgc agaccaagga ggatctgaat gcctcaggac tcacaggaag cattgtcggg
     1321 catgtgggtg acggcaactt ccactgcatc ctgctggtca accctgatga cgccgaggaa
     1381 ctgggcaggg tcaaggcttt tgcagaacag ctgggcaggc gggcactggc tctccacgga
     1441 acgtgcacgg gggagcatgg catcggaatg ggcaagcggc agctgctgca ggaggaggtg
     1501 ggcgccgtgg gcgtggagac catgcggcag ctcaaggccg tgctagaccc ccaaggcctc
     1561 atgaatccag gcaaagtgct gtgaaggggg tctgagcact tagcccacaa gttccctgac
     1621 tacggagccg gttctggaac ttttcttcat gccacggccc ctgcaaggaa atagatgctg
     1681 aggcagtctt cctgccagcg agcccactgt atctgggccc aaggccagag ggcccagaga
     1741 gaagcctgag caccgtgtta cctccctggc cctctggctg gccccaggag cctttggttc
     1801 agtaaacgac ccagggtggt tcccagcaaa gctgcttcct ctctgctcct acgcatcctg
     1861 tcctggcggg aagagagcgt ctgggtccat tcaagactct gatgacaccc ctccccgagg
     1921 cctcccactg ccggggtccc aggacccttc ccccttcacc tggtgacagg aacactcctt
     1981 tcctggtatg gaacgtgagc tcccgtgaca tgatgatagg tcttctcctt ggggcctccc
     2041 ccaataaatc tgtaataaac ctgaaaccca cctaca
//
