LOCUS       NM_013764               1043 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus deoxyguanosine kinase (Dguok), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_013764
VERSION     NM_013764.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1043)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1043)
  AUTHORS   Borreguero,C.F., Wueest,S., Hantel,C., Schneider,H., Konrad,D.,
            Beuschlein,F. and Spyroglou,A.
  TITLE     Deoxyguanosine kinase mutation F180S is associated with a lean
            phenotype in mice
  JOURNAL   Int J Obes (Lond) 47 (3), 215-223 (2023)
   PUBMED   36709400
  REMARK    GeneRIF: Deoxyguanosine kinase mutation F180S is associated with a
            lean phenotype in mice.
REFERENCE   3  (bases 1 to 1043)
  AUTHORS   Zhou,X., Mikaeloff,F., Curbo,S., Zhao,Q., Kuiper,R., Vegvari,A.,
            Neogi,U. and Karlsson,A.
  TITLE     Coordinated pyruvate kinase activity is crucial for metabolic
            adaptation and cell survival during mitochondrial dysfunction
  JOURNAL   Hum Mol Genet 30 (21), 2012-2026 (2021)
   PUBMED   34169315
REFERENCE   4  (bases 1 to 1043)
  AUTHORS   Zhou,X., Curbo,S., Zhao,Q., Krishnan,S., Kuiper,R. and Karlsson,A.
  TITLE     Severe mtDNA depletion and dependency on catabolic lipid metabolism
            in DGUOK knockout mice
  JOURNAL   Hum Mol Genet 28 (17), 2874-2884 (2019)
   PUBMED   31127938
  REMARK    GeneRIF: We conclude that Dguok has a major role for the synthesis
            of deoxyribonucleotides for mtDNA replication particularly in the
            liver, similar to the human disorder. Our data also show a
            catabolic lipid metabolism in liver tissue of Dguok-/-.
REFERENCE   5  (bases 1 to 1043)
  AUTHORS   Perez-Rivas,L.G., Rhayem,Y., Sabrautzki,S., Hantel,C., Rathkolb,B.,
            Hrabe de Angelis,M., Reincke,M., Beuschlein,F. and Spyroglou,A.
  TITLE     Genetic characterization of a mouse line with primary aldosteronism
  JOURNAL   J Mol Endocrinol 58 (2), 67-78 (2017)
   PUBMED   27965370
REFERENCE   6  (bases 1 to 1043)
  AUTHORS   Wubah,J.A., Setzer,R.W., Lau,C., Charlap,J.H. and Knudsen,T.B.
  TITLE     Exposure-disease continuum for 2-chloro-2'-deoxyadenosine, a
            prototype ocular teratogen. 1. Dose-response analysis
  JOURNAL   Teratology 64 (3), 154-169 (2001)
   PUBMED   11514946
REFERENCE   7  (bases 1 to 1043)
  AUTHORS   Petrakis,T.G., Ktistaki,E., Wang,L., Eriksson,S. and Talianidis,I.
  TITLE     Cloning and characterization of mouse deoxyguanosine kinase.
            Evidence for a cytoplasmic isoform
  JOURNAL   J Biol Chem 274 (35), 24726-24730 (1999)
   PUBMED   10455141
REFERENCE   8  (bases 1 to 1043)
  AUTHORS   Snyder,F.F., Jenuth,J.P., Dilay,J.E., Fung,E., Lightfoot,T. and
            Mably,E.R.
  TITLE     Secondary loss of deoxyguanosine kinase activity in purine
            nucleoside phosphorylase deficient mice
  JOURNAL   Biochim Biophys Acta 1227 (1-2), 33-40 (1994)
   PUBMED   7918681
REFERENCE   9  (bases 1 to 1043)
  AUTHORS   Jenuth,J.P., Dilay,J.E., Fung,E., Mably,E.R. and Snyder,F.F.
  TITLE     Absence of dGTP accumulation and compensatory loss of
            deoxyguanosine kinase in purine nucleoside phosphorylase deficient
            mice
  JOURNAL   Adv Exp Med Biol 309B, 273-276 (1991)
   PUBMED   1664183
REFERENCE   10 (bases 1 to 1043)
  AUTHORS   Barker,J. and Lewis,R.A.
  TITLE     Deoxyguanosine kinase of neonatal mouse skin tissue
  JOURNAL   Biochim Biophys Acta 658 (1), 111-123 (1981)
   PUBMED   6260206
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090648.5.
            
            On Aug 13, 2022 this sequence version replaced NM_013764.2.
            
            Transcript Variant: This variant (1), known as dGK-1, represents
            the longer transcript and 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 :: BC012647.1, U90524.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-158               AC090648.5         185892-186049       c
            159-271             AC090648.5         175830-175942       c
            272-459             AC090648.5         169565-169752       c
            460-607             AC090648.5         166128-166275       c
            608-723             AC090648.5         160491-160606       c
            724-823             AC090648.5         159987-160086       c
            824-1043            AC090648.5         159361-159580       c
FEATURES             Location/Qualifiers
     source          1..1043
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 35.94 cM"
     gene            1..1043
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /note="deoxyguanosine kinase"
                     /db_xref="GeneID:27369"
                     /db_xref="MGI:MGI:1351602"
     exon            1..158
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..850
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /EC_number="2.7.1.113"
                     /EC_number="2.7.1.76"
                     /note="isoform 1 is encoded by transcript variant 1;
                     deoxyguanosine kinase, mitochondrial; deoxyadenosine
                     kinase, mitochondrial"
                     /codon_start=1
                     /product="deoxyguanosine kinase, mitochondrial isoform 1"
                     /protein_id="NP_038792.2"
                     /db_xref="CCDS:CCDS20279.1"
                     /db_xref="GeneID:27369"
                     /db_xref="MGI:MGI:1351602"
                     /translation="MAAGRFLLRRLRASFRSPLRNALVDAPHARAMHDGGGPRRLCIE
                     GNIAVGKSTFVKLLMKTHPEWQVATEPIAEWQNIQAAGAQKDGTSKRLGNLLEMMYQE
                     PARWSYTFQTLSFMSRLKVQLEPIPGRLLQAEKSVRVFERSVYSDRYIFAKNLFENGS
                     LSDIEWHIYQDWHSFLLQEFANRLLLHGFIYLQASPQVCMERLYQRDREEEKGIELAY
                     LQQLHSQHEDWFINKTTKLHFEALQHVPVLVLDVTEDFSENAARQEELMGQVNTFMRN
                     L"
     exon            159..271
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /inference="alignment:Splign:2.1.0"
     exon            272..459
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /inference="alignment:Splign:2.1.0"
     exon            460..607
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /inference="alignment:Splign:2.1.0"
     exon            608..723
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /inference="alignment:Splign:2.1.0"
     exon            724..823
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /inference="alignment:Splign:2.1.0"
     exon            824..1043
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1016..1021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /note="hexamer: AATAAA"
     polyA_site      1043
                     /gene="Dguok"
                     /gene_synonym="dGK; dGK1; dGK2; dGK3"
                     /note="major polyA site"
ORIGIN      
        1 gctcggcttg ggtaggatgg ctgcaggtcg gttccttctg cgtcgtctcc gagcgtcttt
       61 ccgttccccg ctgcggaacg cgctcgtgga cgcgccacac gccagggcca tgcacgacgg
      121 gggcggcccc cgaaggctct gcattgaagg caacatcgct gtgggcaaat ccacctttgt
      181 gaagttactc atgaaaactc acccggagtg gcaggtggcg acagaaccta tagcagagtg
      241 gcagaatatt caggctgctg gagcccaaaa agatggcact tccaaacgtc ttggaaactt
      301 gctagaaatg atgtaccagg agccagcacg atggtcctac acattccaga ccctttcttt
      361 catgagccgt ctgaaggtgc agctggagcc catcccaggg agactcctgc aggcagagaa
      421 gtctgtgcgg gtctttgaga ggtctgtgta cagtgacagg tatatctttg caaagaatct
      481 atttgaaaat ggctccctca gtgacatcga gtggcacatc tatcaggact ggcactcctt
      541 tctcctgcag gagttcgcaa accggctttt gttacacggc ttcatctatc tccaggcttc
      601 accccaggtt tgtatggaga gactctacca gagggataga gaagaagaaa agggcattga
      661 gctggcctat cttcaacagc tacatagtca gcacgaagac tggtttatta acaagactac
      721 caagctccac ttcgaagctc tgcagcacgt gccagtgctg gtgctggatg tcactgaaga
      781 cttctctgaa aatgccgcca ggcaggaaga gctcatggga caggtgaaca cctttatgag
      841 gaacttgtaa gcaataagga cacgtggctg tggtctggac tctgactttc tcagatgctg
      901 actgctctcc atcctgttat gcacatccct ttggcccctc atgcaccccc acacctgggt
      961 gtgtgctgtc tttgtactgc cattgttttt gtttttttaa tctcaagcac cttgaaataa
     1021 agctgacttt gctatttttc taa
//
