LOCUS       NM_194436               2007 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens lactate dehydrogenase D (LDHD), transcript variant 2,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_194436
VERSION     NM_194436.3
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 2007)
  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 2007)
  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 2007)
  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 2007)
  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 2007)
  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 2007)
  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 2007)
  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 2007)
  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 2007)
  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 2007)
  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, BM544922.1 and
            BC040279.1.
            
            On Feb 27, 2020 this sequence version replaced NM_194436.2.
            
            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 (2) lacks an alternate in-frame
            segment, compared to variant 1,  resulting in a shorter protein
            (isoform 2), compared to 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 :: AY092767.1, SRR14038195.1216112.1
                                           [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
            MANE Ensembl match                 :: ENST00000450168.3/
                                                  ENSP00000417011.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC099508.3         109236-109261       c
            27-720              BM544922.1         25-718
            721-2007            BC040279.1         747-2033
FEATURES             Location/Qualifiers
     source          1..2007
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..2007
                     /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..1515
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /EC_number="1.1.2.4"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; D-lactate dehydrogenase; probable D-lactate
                     dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="probable D-lactate dehydrogenase, mitochondrial
                     isoform 2 precursor"
                     /protein_id="NP_919417.1"
                     /db_xref="CCDS:CCDS45529.1"
                     /db_xref="GeneID:197257"
                     /db_xref="HGNC:HGNC:19708"
                     /db_xref="MIM:607490"
                     /translation="MARLLRSATWELFPWRGYCSQKAKGELCRDFVEALKAVVGGSHV
                     STAAVVREQHGRDESVHRCEPPDAVVWPQNVEQVSRLAALCYRQGVPIIPFGTGTGLE
                     GGVCAVQGGVCVNLTHMDRILELNQEDFSVVVEPGVTRKALNAHLRDSGLWFPVDPGA
                     DASLCGMAATGASGTNAVRYGTMRDNVLNLEVVLPDGRLLHTAGRGRHFRKSAAGYNL
                     TGLFVGSEGTLGLITATTLRLHPAPEATVAATCAFPSVQAAVDSTVHILQAAVPVARI
                     EFLDEVMMDACNRYSKLNCLVAPTLFLEFHGSQQALEEQLQRTEEIVQQNGASDFSWA
                     KEAEERSRLWTARHNAWYAALATRPGCKGYSTDVCVPISRLPEIVVQTKEDLNASGLT
                     GSIVGHVGDGNFHCILLVNPDDAEELGRVKAFAEQLGRRALALHGTCTGEHGIGMGKR
                     QLLQEEVGAVGVETMRQLKAVLDPQGLMNPGKVL"
     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..889
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1018
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1146
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1237
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1349
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..2007
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1732..1737
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="hexamer: AGTAAA"
     polyA_site      1761
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="major polyA site"
     regulatory      1985..1990
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDHD"
                     /gene_synonym="DLACD; DLD"
                     /note="hexamer: AATAAA"
     polyA_site      2007
                     /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 gcatttccgg aagagtgcag ccggctacaa cctcacgggg
      721 ctcttcgtgg gctccgaggg gacgctgggc ctcatcacag ccaccaccct gcgcctgcac
      781 cctgcccctg aggccacagt ggccgccacg tgtgcgttcc ccagtgtcca ggctgctgtg
      841 gacagcactg tacacatcct ccaggctgca gtgcccgtag cccgcattga gttcctggat
      901 gaagtcatga tggatgcctg caacaggtac agcaagctga attgcttagt ggcgcccaca
      961 ctcttcctgg agttccatgg ctcccagcag gcactggagg agcagctgca gcgcacagag
     1021 gagatagtcc agcagaacgg agcctctgac ttctcctggg ccaaggaggc cgaggagcgc
     1081 agccggcttt ggacagcacg gcacaatgcc tggtacgcag ccctggccac gcggccaggc
     1141 tgcaagggct actccacgga tgtgtgtgtg cccatctccc ggctgccgga gatcgtggtg
     1201 cagaccaagg aggatctgaa tgcctcagga ctcacaggaa gcattgtcgg gcatgtgggt
     1261 gacggcaact tccactgcat cctgctggtc aaccctgatg acgccgagga actgggcagg
     1321 gtcaaggctt ttgcagaaca gctgggcagg cgggcactgg ctctccacgg aacgtgcacg
     1381 ggggagcatg gcatcggaat gggcaagcgg cagctgctgc aggaggaggt gggcgccgtg
     1441 ggcgtggaga ccatgcggca gctcaaggcc gtgctagacc cccaaggcct catgaatcca
     1501 ggcaaagtgc tgtgaagggg gtctgagcac ttagcccaca agttccctga ctacggagcc
     1561 ggttctggaa cttttcttca tgccacggcc cctgcaagga aatagatgct gaggcagtct
     1621 tcctgccagc gagcccactg tatctgggcc caaggccaga gggcccagag agaagcctga
     1681 gcaccgtgtt acctccctgg ccctctggct ggccccagga gcctttggtt cagtaaacga
     1741 cccagggtgg ttcccagcaa agctgcttcc tctctgctcc tacgcatcct gtcctggcgg
     1801 gaagagagcg tctgggtcca ttcaagactc tgatgacacc cctccccgag gcctcccact
     1861 gccggggtcc caggaccctt cccccttcac ctggtgacag gaacactcct ttcctggtat
     1921 ggaacgtgag ctcccgtgac atgatgatag gtcttctcct tggggcctcc cccaataaat
     1981 ctgtaataaa cctgaaaccc acctaca
//
