LOCUS       NM_013391               3173 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens dimethylglycine dehydrogenase (DMGDH), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_013391
VERSION     NM_013391.3
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 3173)
  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   2  (bases 1 to 3173)
  AUTHORS   Wang,P., Wu,T., Schwender,H., Wang,H., Shi,B., Wang,Z.Q., Yuan,Y.,
            Liu,D.J., Wang,M.Y., Li,J., Zhou,Z.B., Zhu,H.P. and Beaty,T.H.
  TITLE     Evidence of interaction between genes in the folate/homocysteine
            metabolic pathway in controlling risk of non-syndromic oral cleft
  JOURNAL   Oral Dis 24 (5), 820-828 (2018)
   PUBMED   29356306
  REMARK    GeneRIF: Our study suggested markers in BHMT/BHMT2 and DMGDH might
            affect the risk of NSCL/P through pairwise interaction.
REFERENCE   3  (bases 1 to 3173)
  AUTHORS   Sookoian,S., Puri,P., Castano,G.O., Scian,R., Mirshahi,F.,
            Sanyal,A.J. and Pirola,C.J.
  TITLE     Nonalcoholic steatohepatitis is associated with a state of
            betaine-insufficiency
  JOURNAL   Liver Int 37 (4), 611-619 (2017)
   PUBMED   27614103
  REMARK    GeneRIF: In nonalcoholic fatty liver disease patient, the missense
            variant p.Ser646Pro (rs1805074) in DMGDH gene was significantly
            associated with disease severity and circulating levels of
            dimethylglycine.
REFERENCE   4  (bases 1 to 3173)
  AUTHORS   Augustin,P., Hromic,A., Pavkov-Keller,T., Gruber,K. and
            Macheroux,P.
  TITLE     Structure and biochemical properties of recombinant human
            dimethylglycine dehydrogenase and comparison to the disease-related
            H109R variant
  JOURNAL   FEBS J 283 (19), 3587-3603 (2016)
   PUBMED   27486859
  REMARK    GeneRIF: The structure-based analysis provided new insights into
            the kinetic properties of dimethylglycine dehydrogenase in
            particular with respect to oxygen reactivity.
REFERENCE   5  (bases 1 to 3173)
  AUTHORS   Mao,J., Vanderlelie,J.J., Perkins,A.V., Redman,C.W., Ahmadi,K.R.
            and Rayman,M.P.
  TITLE     Genetic polymorphisms that affect selenium status and response to
            selenium supplementation in United Kingdom pregnant women
  JOURNAL   Am J Clin Nutr 103 (1), 100-106 (2016)
   PUBMED   26675765
  REMARK    GeneRIF: In agreement with previous studies, we show that the
            genetic variant rs921943 in DMGDH is significantly associated with
            selenium status in United Kingdom pregnant women.
REFERENCE   6  (bases 1 to 3173)
  AUTHORS   McAndrew,R.P., Vockley,J. and Kim,J.J.
  TITLE     Molecular basis of dimethylglycine dehydrogenase deficiency
            associated with pathogenic variant H109R
  JOURNAL   J Inherit Metab Dis 31 (6), 761-768 (2008)
   PUBMED   18937046
  REMARK    GeneRIF: analysis of dimethylglycine dehydrogenase deficiency
            associated with pathogenic variant H109R
REFERENCE   7  (bases 1 to 3173)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Fariss,R.N., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3173)
  AUTHORS   Binzak,B.A., Wevers,R.A., Moolenaar,S.H., Lee,Y.M., Hwu,W.L.,
            Poggi-Bach,J., Engelke,U.F., Hoard,H.M., Vockley,J.G. and
            Vockley,J.
  TITLE     Cloning of dimethylglycine dehydrogenase and a new human inborn
            error of metabolism, dimethylglycine dehydrogenase deficiency
  JOURNAL   Am J Hum Genet 68 (4), 839-847 (2001)
   PUBMED   11231903
REFERENCE   9  (bases 1 to 3173)
  AUTHORS   Binzak,B.A., Vockley,J.G., Jenkins,R.B. and Vockley,J.
  TITLE     Structure and analysis of the human dimethylglycine dehydrogenase
            gene
  JOURNAL   Mol Genet Metab 69 (3), 181-187 (2000)
   PUBMED   10767172
REFERENCE   10 (bases 1 to 3173)
  AUTHORS   Moolenaar,S.H., Poggi-Bach,J., Engelke,U.F., Corstiaensen,J.M.,
            Heerschap,A., de Jong,J.G., Binzak,B.A., Vockley,J. and Wevers,R.A.
  TITLE     Defect in dimethylglycine dehydrogenase, a new inborn error of
            metabolism: NMR spectroscopy study
  JOURNAL   Clin Chem 45 (4), 459-464 (1999)
   PUBMED   10102904
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008502.8, BP276968.1,
            AF111858.1, AK057641.1, CA397896.1 and AA676742.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 24, 2013 this sequence version replaced NM_013391.2.
            
            Summary: This gene encodes an enzyme involved in the catabolism of
            choline, catalyzing the oxidative demethylation of dimethylglycine
            to form sarcosine. The enzyme is found as a monomer in the
            mitochondrial matrix, and uses flavin adenine dinucleotide and
            folate as cofactors. Mutation in this gene causes dimethylglycine
            dehydrogenase deficiency, characterized by a fishlike body odor,
            chronic muscle fatigue, and elevated levels of the muscle form of
            creatine kinase in serum. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the supported 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 :: AK057641.1, AK314736.1 [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                 :: ENST00000255189.8/
                                                  ENSP00000255189.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AC008502.8         58304-58310         c
            8-54                BP276968.1         8-54
            55-1642             AF111858.1         1-1588
            1643-1990           AK057641.1         1595-1942
            1991-2655           AF111858.1         1937-2601
            2656-3122           CA397896.1         112-578
            3123-3173           AA676742.1         2-52                c
FEATURES             Location/Qualifiers
     source          1..3173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..3173
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /note="dimethylglycine dehydrogenase"
                     /db_xref="GeneID:29958"
                     /db_xref="HGNC:HGNC:24475"
                     /db_xref="MIM:605849"
     exon            1..155
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..2655
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /EC_number="1.5.8.4"
                     /note="dimethylglycine dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="dimethylglycine dehydrogenase, mitochondrial
                     precursor"
                     /protein_id="NP_037523.2"
                     /db_xref="CCDS:CCDS4044.1"
                     /db_xref="GeneID:29958"
                     /db_xref="HGNC:HGNC:24475"
                     /db_xref="MIM:605849"
                     /translation="MLRPGAQLLRGLLLRSCPLQGSPGRPRSVCGREGEEKPPLSAET
                     QWKDRAETVIIGGGCVGVSLAYHLAKAGMKDVVLLEKSELTAGSTWHAAGLTTYFHPG
                     INLKKIHYDSIKLYEKLEEETGQVVGFHQPGSIRLATTPVRVDEFKYQMTRTGWHATE
                     QYLIEPEKIQEMFPLLNMNKVLAGLYNPGDGHIDPYSLTMALAAGARKCGALLKYPAP
                     VTSLKARSDGTWDVETPQGSMRANRIVNAAGFWAREVGKMIGLEHPLIPVQHQYVVTS
                     TISEVKALKRELPVLRDLEGSYYLRQERDGLLFGPYESQEKMKVQDSWVTNGVPPGFG
                     KELFESDLDRIMEHIKAAMEMVPVLKKADIINVVNGPITYSPDILPMVGPHQGVRNYW
                     VAIGFGYGIIHAGGVGKYLSDWILHGEPPFDLIELDPNRYGKWTTTQYTEAKARESYG
                     FNNIVGYPKEERFAGRPTQRVSGLYQRLESKCSMGFHAGWEQPHWFYKPGQDTQYRPS
                     FRRTNWFEPVGSEYKQVMQRVAVTDLSPFGKFNIKGQDSIRLLDHLFANVIPKVGFTN
                     ISHMLTPKGRVYAELTVSHQSPGEFLLITGSGSELHDLRWIEEEAVKGGYDVEIKNIT
                     DELGVLGVAGPQARKVLQKLTSEDLSDDVFKFLQTKSLKVSNIPVTAIRISYTGELGW
                     ELYHRREDSVALYDAIMNAGQEEGIDNFGTYAMNALRLEKAFRAWGLEMNCDTNPLEA
                     GLEYFVKLNKPADFIGKQALKQIKAKGLKRRLVCLTLATDDVDPEGNESIWYNGKVVG
                     NTTSGSYSYSIQKSLAFAYVPVQLSEVGQQVEVELLGKNYPAVIIQEPLVLTEPTRNR
                     LQKKGGKDKT"
     exon            156..330
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            331..429
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            430..594
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            595..799
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            800..1048
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1247
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1417
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1571
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1737
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1738..1868
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1869..2086
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2087..2244
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2245..2304
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2305..2439
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2440..3173
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3104..3109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
     polyA_site      3131
                     /gene="DMGDH"
                     /gene_synonym="DMGDHD; ME2GLYDH"
                     /note="The 3' most polyA site has not been determined.
                     This is an internal polyA site."
ORIGIN      
        1 aggctgcccg ctggcctcgg agcaggcgcc tgcgccctcg gcctcggcct agtcatgctc
       61 cgtcccggcg cgcagctgct gcggggcctc ctgctgcgga gctgcccgct gcagggctcc
      121 cccgggcgcc cgcgctctgt ctgcggccgg gaaggagagg aaaaaccacc cttatctgca
      181 gaaacacaat ggaaagacag agcagaaaca gtgataattg gaggtggctg tgttggtgtg
      241 agtctggctt atcacctggc caaagcaggg atgaaagatg tggtcctgct ggagaaatca
      301 gagctcacgg ctggatctac ctggcacgca gcaggtttaa caacttactt tcatcctgga
      361 ataaacttga agaaaataca ttatgatagc atcaaacttt atgagaaact ggaagaagaa
      421 actggtcagg tggtgggatt ccatcagcca ggtagtatca gacttgctac cacccctgta
      481 agggtagatg aatttaaata tcaaatgact cggactggct ggcatgcaac agaacagtat
      541 ctcattgaac ctgaaaaaat tcaagagatg ttccctttac tcaacatgaa taaggtttta
      601 gctggattgt ataatcctgg agatggtcac attgatcctt attctctaac tatggcactg
      661 gctgctgggg ctaggaaatg tggtgccctt ttaaaatatc ctgcaccagt aacttctctg
      721 aaagccaggt cagatggaac atgggacgtt gaaacaccac aggggtctat gagagcaaat
      781 agaattgtga atgctgcagg attttgggct cgtgaagtag gtaaaatgat tggactagaa
      841 catcctctca ttccggttca acatcaatat gttgttacat cgactatatc tgaagtgaaa
      901 gctttgaaac gagaactgcc tgtgctccgt gacctggaag gatcatatta tctccgacag
      961 gaaagggatg ggcttttgtt tggtccatat gaaagtcaag agaaaatgaa agttcaggac
     1021 tcctgggtca ccaatggagt tcctccaggt tttggaaagg aactctttga gtctgatcta
     1081 gatcgaatca tggaacacat caaagctgcc atggaaatgg ttcctgtctt gaaaaaggct
     1141 gacatcatca atgttgtcaa tggtcctatc acgtattctc ctgacattct gcctatggtg
     1201 gggccccatc agggggtcag aaactactgg gtggctatag gctttggata tggcataatc
     1261 cacgctggtg gggtagggaa atatctcagt gactggatcc tgcatggaga acctcctttt
     1321 gatctgatag aattggatcc taatcgctat ggcaaatgga caacaaccca gtacactgag
     1381 gccaaagcaa gagaatcata tggattcaac aatattgttg gttatcctaa agaagaacgg
     1441 tttgctggga ggccgactca acgagtcagt gggctctatc aaaggctgga gtctaagtgt
     1501 tccatggggt tccatgctgg ctgggagcag ccgcactggt tctacaaacc aggccaggac
     1561 actcagtaca ggccaagttt tcgccgcaca aactggtttg agcctgtggg ctcggagtat
     1621 aaacaggtta tgcaaagagt agcggtaact gacctatcac catttggcaa gtttaacatc
     1681 aaaggccaag attccattag actactggac catctctttg caaatgtcat tccaaaggtg
     1741 ggttttacaa atataagtca catgttaaca cccaagggtc gagtgtatgc tgagctgact
     1801 gtttctcacc aatctcctgg ggagtttctt ttaattactg gctctggatc agaacttcat
     1861 gatcttagat ggattgaaga agaagcagtc aaaggtggat atgatgttga aattaaaaac
     1921 ataactgatg agcttggagt tcttggagtt gctgggccac aggcaagaaa ggtccttcag
     1981 aaactgacct ctgaagatct tagtgatgat gttttcaagt ttcttcaaac caagtcctta
     2041 aaggtttcca acattcctgt cactgctatt aggatatctt atactggtga gctgggttgg
     2101 gagctgtatc acagaagaga agattctgtg gcgctgtatg acgctatcat gaatgcaggc
     2161 caggaggagg gaatcgacaa ttttggaacc tatgccatga atgccttacg cctggagaaa
     2221 gccttcagag cctgggggtt agagatgaac tgtgatacaa atcctttgga agctggactg
     2281 gaatattttg tgaagttaaa taagccagca gacttcatag gaaagcaagc actgaaacag
     2341 attaaagcca aggggctgaa acgaagactg gtctgcctca ccttggcaac ggatgatgtt
     2401 gatccagagg gaaatgaaag catctggtac aatggcaagg tggttggcaa cacgacatct
     2461 ggaagctata gctacagcat ccagaagagt ctggctttcg catatgtccc tgtacaacta
     2521 agtgaagtgg gacagcaagt ggaagttgaa ctattaggca aaaattaccc agcagtcatc
     2581 atacaagaac ctttggtatt gaccgaacca accagaaacc ggcttcagaa aaaaggtgga
     2641 aaggacaaaa cttgaaaaaa gaccttcagc agtcaactga attagagttg ctaatgactg
     2701 tccttgaaat tattataact ggctcccagg ggaatagagg aaaccaggaa ttcatttcaa
     2761 aatcatcaaa gtctaaattt agaatcttaa tgaaaccttt ctgttaagtg ttttctaagc
     2821 aagacagaat aatagataaa tgatttacat tgttctttta aatgaagaaa tttgaaatga
     2881 atgttttttt atttacccca cattacccaa tcagtaaaac atttaggtgt ttgctaatat
     2941 acacaatcat tactataacc taattaaggg acattttata attttagtaa caaatgcatt
     3001 cggttcttga cagctgaaaa caaattaata aattatcttt tacataaaaa catgtacaat
     3061 attgtttatg gatttacttc tttgagaaat ctttccttag atgaataaat gaaagtttta
     3121 atttttcatg atatatctgt gatgaaaata gtaaaactta acattgacat ata
//
