LOCUS       NM_005918               2170 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens malate dehydrogenase 2 (MDH2), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005918
VERSION     NM_005918.4
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 2170)
  AUTHORS   Broeks,M.H., Meijer,N.W.F., Westland,D., Bosma,M., Gerrits,J.,
            German,H.M., Ciapaite,J., van Karnebeek,C.D.M., Wanders,R.J.A.,
            Zwartkruis,F.J.T., Verhoeven-Duif,N.M. and Jans,J.J.M.
  TITLE     The malate-aspartate shuttle is important for de novo serine
            biosynthesis
  JOURNAL   Cell Rep 42 (9), 113043 (2023)
   PUBMED   37647199
REFERENCE   2  (bases 1 to 2170)
  AUTHORS   Shen,Q., Teng,L., Wang,Y., Guo,L., Xu,F., Huang,H., Xie,W.,
            Zhou,Q., Chen,Y., Wang,J., Mao,Y., Chen,J. and Jiang,H.
  TITLE     Integrated genomic, transcriptomic and metabolomic analysis reveals
            MDH2 mutation-induced metabolic disorder in recurrent focal
            segmental glomerulosclerosis
  JOURNAL   Front Immunol 13, 962986 (2022)
   PUBMED   36159820
  REMARK    GeneRIF: Integrated genomic, transcriptomic and metabolomic
            analysis reveals MDH2 mutation-induced metabolic disorder in
            recurrent focal segmental glomerulosclerosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2170)
  AUTHORS   Eo,Y., Duong,M.T.H. and Ahn,H.C.
  TITLE     Structural Comparison of hMDH2 Complexed with Natural Substrates
            and Cofactors: The Importance of Phosphate Binding for Active
            Conformation and Catalysis
  JOURNAL   Biomolecules 12 (9), 1175 (2022)
   PUBMED   36139014
  REMARK    GeneRIF: Structural Comparison of hMDH2 Complexed with Natural
            Substrates and Cofactors: The Importance of Phosphate Binding for
            Active Conformation and Catalysis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2170)
  AUTHORS   Ticci,C., Nesti,C., Rubegni,A., Doccini,S., Baldacci,J., Dal
            Canto,F., Ragni,L., Cordelli,D.M., Donati,M.A. and Santorelli,F.M.
  TITLE     Bi-allelic variants in MDH2: Expanding the clinical phenotype
  JOURNAL   Clin Genet 101 (2), 260-264 (2022)
   PUBMED   34766628
  REMARK    GeneRIF: Bi-allelic variants in MDH2: Expanding the clinical
            phenotype.
REFERENCE   5  (bases 1 to 2170)
  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   6  (bases 1 to 2170)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   7  (bases 1 to 2170)
  AUTHORS   Habets,G.G., van der Kammen,R.A., Willemsen,V., Balemans,M.,
            Wiegant,J. and Collard,J.G.
  TITLE     Sublocalization of an invasion-inducing locus and other genes on
            human chromosome 7
  JOURNAL   Cytogenet Cell Genet 60 (3-4), 200-205 (1992)
   PUBMED   1505215
REFERENCE   8  (bases 1 to 2170)
  AUTHORS   Beeckmans,S., Van Driessche,E. and Kanarek,L.
  TITLE     The visualization by affinity electrophoresis of a specific
            association between the consecutive citric acid cycle enzymes
            fumarase and malate dehydrogenase
  JOURNAL   Eur J Biochem 183 (2), 449-454 (1989)
   PUBMED   2759092
REFERENCE   9  (bases 1 to 2170)
  AUTHORS   Fahien,L.A., Kmiotek,E.H., MacDonald,M.J., Fibich,B. and Mandic,M.
  TITLE     Regulation of malate dehydrogenase activity by glutamate, citrate,
            alpha-ketoglutarate, and multienzyme interaction
  JOURNAL   J Biol Chem 263 (22), 10687-10697 (1988)
   PUBMED   2899080
REFERENCE   10 (bases 1 to 2170)
  AUTHORS   Benn,P., Chern,C.J., Bruns,G., Craig,I.W. and Croce,C.M.
  TITLE     Assignment of the genes for human beta-glucuronidase and
            mitochondrial malate dehydrogenase to the region pter leads to q22
            of chromosome 7
  JOURNAL   Cytogenet Cell Genet 19 (5), 273-280 (1977)
   PUBMED   606506
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006330.5 and AC005077.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005918.3.
            
            Summary: Malate dehydrogenase catalyzes the reversible oxidation of
            malate to oxaloacetate, utilizing the NAD/NADH cofactor system in
            the citric acid cycle. The protein encoded by this gene is
            localized to the mitochondria and may play pivotal roles in the
            malate-aspartate shuttle that operates in the metabolic
            coordination between cytosol and mitochondria. Several transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR1803612.11568.1,
                                           SRR3476690.978959.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000315758.10/
                                                  ENSP00000327070.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AC006330.5         4330-4450           c
            122-290             AC005077.5         237737-237905       c
            291-374             AC005077.5         235242-235325       c
            375-484             AC005077.5         234657-234766       c
            485-610             AC005077.5         232237-232362       c
            611-688             AC005077.5         229143-229220       c
            689-788             AC005077.5         228297-228396       c
            789-940             AC005077.5         227782-227933       c
            941-2170            AC005077.5         225227-226456       c
FEATURES             Location/Qualifiers
     source          1..2170
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..2170
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /note="malate dehydrogenase 2"
                     /db_xref="GeneID:4191"
                     /db_xref="HGNC:HGNC:6971"
                     /db_xref="MIM:154100"
     exon            1..121
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..1072
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /EC_number="1.1.1.37"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; malate dehydrogenase, mitochondrial; malate
                     dehydrogenase 2, NAD (mitochondrial); testicular tissue
                     protein Li 120"
                     /codon_start=1
                     /product="malate dehydrogenase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_005909.2"
                     /db_xref="CCDS:CCDS5581.1"
                     /db_xref="GeneID:4191"
                     /db_xref="HGNC:HGNC:6971"
                     /db_xref="MIM:154100"
                     /translation="MLSALARPASAALRRSFSTSAQNNAKVAVLGASGGIGQPLSLLL
                     KNSPLVSRLTLYDIAHTPGVAADLSHIETKAAVKGYLGPEQLPDCLKGCDVVVIPAGV
                     PRKPGMTRDDLFNTNATIVATLTAACAQHCPEAMICVIANPVNSTIPITAEVFKKHGV
                     YNPNKIFGVTTLDIVRANTFVAELKGLDPARVNVPVIGGHAGKTIIPLISQCTPKVDF
                     PQDQLTALTGRIQEAGTEVVKAKAGAGSATLSMAYAGARFVFSLVDAMNGKEGVVECS
                     FVKSQETECTYFSTPLLLGKKGIEKNLGIGKVSSFEEKMISDAIPELKASIKKGEDFV
                     KTLK"
     exon            122..290
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            291..374
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            375..484
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            485..610
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            611..688
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            689..788
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            789..940
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            941..2170
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1230..1235
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /note="hexamer: AATAAA"
     polyA_site      1275
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /note="major polyA site"
     regulatory      2143..2148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
                     /note="hexamer: AATAAA"
     polyA_site      2170
                     /gene="MDH2"
                     /gene_synonym="DEE51; EIEE51; M-MDH; MDH; MGC:3559; MOR1"
ORIGIN      
        1 acttccccgt caccagctcc tgtgcctgcc agtcggtgcc cctcccgctc cagccatgct
       61 ctccgccctc gcccggcctg ccagcgctgc tctccgccgc agcttcagca cctcggccca
      121 gaacaatgct aaagtagctg tgctaggggc ctctggaggc atcgggcagc cactttcact
      181 tctcctgaag aacagcccct tggtgagccg cctgaccctc tatgatatcg cgcacacacc
      241 cggagtggcc gcagatctga gccacatcga gaccaaagcc gctgtgaaag gctacctcgg
      301 acctgaacag ctgcctgact gcctgaaagg ttgtgatgtg gtagttattc cggctggagt
      361 ccccagaaag ccaggcatga cccgggacga cctgttcaac accaatgcca cgattgtggc
      421 caccctgacc gctgcctgtg cccagcactg cccggaagcc atgatctgcg tcattgccaa
      481 tccggttaat tccaccatcc ccatcacagc agaagttttc aagaagcatg gagtgtacaa
      541 ccccaacaaa atcttcggcg tgacgaccct ggacatcgtc agagccaaca cctttgttgc
      601 agagctgaag ggtttggatc cagctcgagt caacgtccct gtcattggtg gccatgctgg
      661 gaagaccatc atccccctga tctctcagtg cacccccaag gtggactttc cccaggacca
      721 gctgacagca ctcactgggc ggatccagga ggccggcacg gaggtggtca aggctaaagc
      781 cggagcaggc tctgccaccc tctccatggc gtatgccggc gcccgctttg tcttctccct
      841 tgtggatgca atgaatggaa aggaaggtgt tgtggaatgt tccttcgtta agtcacagga
      901 aacggaatgt acctacttct ccacaccgct gctgcttggg aaaaagggca tcgagaagaa
      961 cctgggcatc ggcaaagtct cctcttttga ggagaagatg atctcggatg ccatccccga
     1021 gctgaaggcc tccatcaaga agggggaaga tttcgtgaag accctgaagt gagccgctgt
     1081 gacgggtggc cagtttcctt aatttatgaa ggcatcatgt cactgcaaag ccgttgcaga
     1141 taaactttgt attttaattt gctttggtga tgattactgt attgacatca tcatgccttc
     1201 caaattgtgg gtggctctgt gggcgcatca ataaaagccg tccttgattt tatttttcaa
     1261 ggtcccttct gtaaatgctg tgctttcttc cctgtgagag ccaactttag agtgtctgct
     1321 acctcttcat taccaatcag aattagatga tgtttaactg ttagactgaa gcgtgacgct
     1381 ttcatcagta gcttcaagaa agtctaaatt gttaatttat ggaattggac acagtattca
     1441 gtttacccgt acatgctcct cccgcccctc ctgttggcac ccttgcatcg cccaggcctg
     1501 attcctcctg ggggtagttc acccccacgg gttcatagtt cagcggcgaa tgccaggcag
     1561 ctgttttctg gctgagcaaa cagcaccttt ctcattgagc ttcctctact gacctctgtc
     1621 ccccttggga tttcatcttc tgaccgaacc ctgatgttca gtggcagaga cagcccatag
     1681 ccagaactgt gggtagacca gggttggggt gtgcggtttg ggacagccca aaccccagcc
     1741 gctgtgtcaa ggcctaggac gccatgctgc catcaaaagg gggttccagg tttccatcag
     1801 tggcctaaag aagggacttc ttgttgtact gaggagtgcg gaattaaaga gatttgactc
     1861 cctttagtat tgggggcagt ccgttcccca gacactgtgg cctctgaagt ggaaactgaa
     1921 agctgcatac ctgggaaaga actttctagg aataggcaat ggccttcagt ggaagaggga
     1981 gggctggagg tgtgcccagt acttggatgt tcatctgtcc acaacagctt tttgtttttt
     2041 taaaaaagct aaaatggaaa tggattttat cataaaggat gacatcgttt tcttctacaa
     2101 ttaatacatg ttcattgtat aaaacccaaa aagcagctaa aaaataaagc gggaaaggaa
     2161 ctactggtaa
//
