LOCUS       NM_080916               1075 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens deoxyguanosine kinase (DGUOK), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_080916
VERSION     NM_080916.3
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 1075)
  AUTHORS   Guzman,H., Yazdani,S., Harmon,J.L., Chapman,K.A., Vitola,B.,
            Pyle,L., McKnight,H., Sigal,W., Lord,K., De Leon,D.D., Merchant,N.
            and Ganetzky,R.
  TITLE     Case report: Two unexpected cases of DGUOK-related mitochondrial
            DNA depletion syndrome presenting with hyperinsulinemic
            hypoglycemia
  JOURNAL   Front Endocrinol (Lausanne) 14, 1268135 (2023)
   PUBMED   38027095
  REMARK    GeneRIF: Case report: Two unexpected cases of DGUOK-related
            mitochondrial DNA depletion syndrome presenting with
            hyperinsulinemic hypoglycemia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1075)
  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   3  (bases 1 to 1075)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1075)
  AUTHORS   Unal,O., Hismi,B., Kilic,M., Gulsen,H.H., Coskun,T., Sivri,S.H.,
            Dursun,A., Yuce,A. and Tokatli,A.
  TITLE     Deoxyguanosine kinase deficiency: a report of four patients
  JOURNAL   J Pediatr Endocrinol Metab 30 (6), 697-702 (2017)
   PUBMED   28493820
  REMARK    GeneRIF: DGUOK deficiency and mutation is associated with
            mitochondrial DNA depletion syndromes.
REFERENCE   5  (bases 1 to 1075)
  AUTHORS   Deng,M., Lin,W.X., Guo,L., Zhang,Z.H. and Song,Y.Z.
  TITLE     [Clinical features and DGUOK mutations of an infant with
            mitochondrial DNA depletion syndrome]
  JOURNAL   Zhongguo Dang Dai Er Ke Za Zhi 18 (6), 545-550 (2016)
   PUBMED   27324545
  REMARK    GeneRIF: sequencing results showed that the patient was a compound
            heterozygote for c.679G>A and c.817delT in the DGUOK gene
REFERENCE   6  (bases 1 to 1075)
  AUTHORS   Jullig,M. and Eriksson,S.
  TITLE     Mitochondrial and submitochondrial localization of human
            deoxyguanosine kinase
  JOURNAL   Eur J Biochem 267 (17), 5466-5472 (2000)
   PUBMED   10951205
REFERENCE   7  (bases 1 to 1075)
  AUTHORS   Johansson,M., Bajalica-Lagercrantz,S., Lagercrantz,J. and
            Karlsson,A.
  TITLE     Localization of the human deoxyguanosine kinase gene (DGUOK) to
            chromosome 2p13
  JOURNAL   Genomics 38 (3), 450-451 (1996)
   PUBMED   8975728
REFERENCE   8  (bases 1 to 1075)
  AUTHORS   Wang,L., Hellman,U. and Eriksson,S.
  TITLE     Cloning and expression of human mitochondrial deoxyguanosine kinase
            cDNA
  JOURNAL   FEBS Lett 390 (1), 39-43 (1996)
   PUBMED   8706825
REFERENCE   9  (bases 1 to 1075)
  AUTHORS   Johansson,M. and Karlsson,A.
  TITLE     Cloning and expression of human deoxyguanosine kinase cDNA
  JOURNAL   Proc Natl Acad Sci U S A 93 (14), 7258-7262 (1996)
   PUBMED   8692979
REFERENCE   10 (bases 1 to 1075)
  AUTHORS   El-Hattab,A.W. and Scaglia,F.
  TITLE     Deoxyguanosine Kinase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301766
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG708680.1, BC015757.1 and
            U41668.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_080916.2.
            
            Summary: In mammalian cells, the phosphorylation of purine
            deoxyribonucleosides is mediated predominantly by two
            deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and
            mitochondrial deoxyguanosine kinase. The protein encoded by this
            gene is responsible for phosphorylation of purine
            deoxyribonucleosides in the mitochondrial matrix. In addition, this
            protein phosphorylates several purine deoxyribonucleoside analogs
            used in the treatment of lymphoproliferative disorders, and this
            phosphorylation is critical for the effectiveness of the analogs.
            Alternative splice variants encoding different protein isoforms
            have been described for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: SRR5189655.4192.1,
                                           SRR5189658.153031.1 [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                 :: ENST00000264093.9/
                                                  ENSP00000264093.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 BG708680.1         44-50
            8-877               BC015757.1         1-870
            878-1075            U41668.1           881-1078
FEATURES             Location/Qualifiers
     source          1..1075
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..1075
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /note="deoxyguanosine kinase"
                     /db_xref="GeneID:1716"
                     /db_xref="HGNC:HGNC:2858"
                     /db_xref="MIM:601465"
     exon            1..173
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..865
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /EC_number="2.7.1.113"
                     /EC_number="2.7.1.76"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; deoxyguanosine kinase, mitochondrial;
                     deoxyadenosine kinase, mitochondrial"
                     /codon_start=1
                     /product="deoxyguanosine kinase, mitochondrial isoform a
                     precursor"
                     /protein_id="NP_550438.1"
                     /db_xref="CCDS:CCDS1931.1"
                     /db_xref="GeneID:1716"
                     /db_xref="HGNC:HGNC:2858"
                     /db_xref="MIM:601465"
                     /translation="MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIE
                     GNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYRE
                     PARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGS
                     LSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAY
                     LEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKN
                     L"
     exon            174..286
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /inference="alignment:Splign:2.1.0"
     exon            287..474
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /inference="alignment:Splign:2.1.0"
     exon            475..622
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /inference="alignment:Splign:2.1.0"
     exon            623..738
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /inference="alignment:Splign:2.1.0"
     exon            739..838
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /inference="alignment:Splign:2.1.0"
     exon            839..1075
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1056..1061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /note="hexamer: AATAAA"
     polyA_site      1075
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtgatc gctgtgtgaa tcgtgggtgg gatggccgcg ggccgcctct ttctaagtcg
       61 gcttcgagca cccttcagtt ccatggccaa gagcccactc gagggcgttt cctcctccag
      121 aggcctgcac gcggggcgcg ggccccgaag gctctccatc gaaggcaaca ttgctgtggg
      181 aaagtccacg tttgtgaagt tactcacgaa aacttaccca gaatggcacg tagctacaga
      241 acctgtagca acatggcaga atatccaggc tgctggcacc caaaaagcct gcactgccca
      301 aagtcttgga aacttgctgg atatgatgta ccgggagcca gcacgatggt cctacacatt
      361 ccagacattt tcctttttga gccgcctgaa agtacagctg gagcccttcc ctgagaaact
      421 cttacaggcc aggaagccag tacagatctt tgagaggtct gtgtacagtg acaggtatat
      481 ctttgcaaag aatctttttg aaaatggttc cctcagtgac atcgagtggc atatctatca
      541 ggactggcat tcttttctcc tgtgggagtt tgccagccgg atcacattac atggcttcat
      601 ctacctccag gcttctcccc aggtttgttt gaagagactg taccagaggg ccagggagga
      661 ggagaaagga attgagctgg cctatctaga gcagctgcat ggccaacacg aagcctggct
      721 tattcacaag acaacgaagc tccactttga ggctctgatg aacattccag tgctggtgtt
      781 ggatgtcaat gatgattttt ctgaggaagt aaccaaacaa gaagacctca tgagagaggt
      841 aaacaccttt gtaaagaatc tgtaaccaat accatgaagt tcaggctgtg atctgggctc
      901 cctgactttc tgaagctaga aaaatgttgt gtctcccaac cacctttcca tccccagccc
      961 ctctcatccc tggagcactc tgccgctcaa gagctggttt gttaattatt gttagacttt
     1021 gccattgttt tcttttgtac ctgaagcatt ttgaaaataa agtttactta agtta
//
