LOCUS       NM_012145               1051 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens deoxythymidylate kinase (DTYMK), transcript variant 1,
            mRNA.
ACCESSION   NM_012145 XM_932687
VERSION     NM_012145.4
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 1051)
  AUTHORS   Heydari,N., Mahdizadeh,M. and Jafari,S.M.
  TITLE     The evolving landscape of involvement of DTYMK enzymes in cancer
  JOURNAL   Med Oncol 40 (8), 213 (2023)
   PUBMED   37358701
  REMARK    GeneRIF: The evolving landscape of involvement of DTYMK enzymes in
            cancer.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1051)
  AUTHORS   Vanoevelen,J.M., Bierau,J., Grashorn,J.C., Lambrichs,E.,
            Kamsteeg,E.J., Bok,L.A., Wevers,R.A., van der Knaap,M.S.,
            Bugiani,M., Frisk,J.H., Colnaghi,R., O'Driscoll,M.,
            Hellebrekers,D.M.E.I., Rodenburg,R., Ferreira,C.R., Brunner,H.G.,
            van den Wijngaard,A., Abdel-Salam,G.M.H., Wang,L. and
            Stumpel,C.T.R.M.
  TITLE     DTYMK is essential for genome integrity and neuronal survival
  JOURNAL   Acta Neuropathol 143 (2), 245-262 (2022)
   PUBMED   34918187
  REMARK    GeneRIF: DTYMK is essential for genome integrity and neuronal
            survival.
REFERENCE   3  (bases 1 to 1051)
  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 1051)
  AUTHORS   Carrion-Castillo,A., Pepe,A., Kong,X.Z., Fisher,S.E., Mazoyer,B.,
            Tzourio-Mazoyer,N., Crivello,F. and Francks,C.
  TITLE     Genetic effects on planum temporale asymmetry and their limited
            relevance to neurodevelopmental disorders, intelligence or
            educational attainment
  JOURNAL   Cortex 124, 137-153 (2020)
   PUBMED   31887566
  REMARK    GeneRIF: Genetic effects on planum temporale asymmetry and their
            limited relevance to neurodevelopmental disorders, intelligence or
            educational attainment.
REFERENCE   5  (bases 1 to 1051)
  AUTHORS   Lam,C.W., Yeung,W.L., Ling,T.K., Wong,K.C. and Law,C.Y.
  TITLE     Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial
            DNA depletion syndrome
  JOURNAL   Clin Chim Acta 496, 93-99 (2019)
   PUBMED   31271740
  REMARK    GeneRIF: DTYMK is a novel gene for mitochondrial DNA depletion
            syndrome
REFERENCE   6  (bases 1 to 1051)
  AUTHORS   Huang,S.H., Tang,A., Drisco,B., Zhang,S.Q., Seeger,R., Li,C. and
            Jong,A.
  TITLE     Human dTMP kinase: gene expression and enzymatic activity
            coinciding with cell cycle progression and cell growth
  JOURNAL   DNA Cell Biol 13 (5), 461-471 (1994)
   PUBMED   8024690
REFERENCE   7  (bases 1 to 1051)
  AUTHORS   Su,J.Y. and Sclafani,R.A.
  TITLE     Molecular cloning and expression of the human deoxythymidylate
            kinase gene in yeast
  JOURNAL   Nucleic Acids Res 19 (4), 823-827 (1991)
   PUBMED   2017365
REFERENCE   8  (bases 1 to 1051)
  AUTHORS   Tamiya,N., Yusa,T., Yamaguchi,Y., Tsukifuji,R., Kuroiwa,N.,
            Moriyama,Y. and Fujimura,S.
  TITLE     Co-purification of thymidylate kinase and cytosolic thymidine
            kinase from human term placenta by affinity chromatography
  JOURNAL   Biochim Biophys Acta 995 (1), 28-35 (1989)
   PUBMED   2538159
REFERENCE   9  (bases 1 to 1051)
  AUTHORS   Cummins,R.R. and Balinsky,D.
  TITLE     Activities of some enzymes of pyrimidine and DNA synthesis in a rat
            transplantable hepatoma and human primary hepatomas, in cell lines
            derived from these tissues, and in human fetal liver
  JOURNAL   Cancer Res 40 (4), 1235-1239 (1980)
   PUBMED   6244089
REFERENCE   10 (bases 1 to 1051)
  AUTHORS   Lee,L.S. and Cheng,Y.
  TITLE     Human thymidylate kinase. Purification, characterization, and
            kinetic behavior of the thymidylate kinase derived from chronic
            myelocytic leukemia
  JOURNAL   J Biol Chem 252 (16), 5686-5691 (1977)
   PUBMED   18469
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC147006.1 and AA446104.1.
            
            On Nov 22, 2018 this sequence version replaced NM_012145.3.
            
            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 :: AK223434.1, L16991.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305784.7/ ENSP00000304802.2
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-912               BC147006.1         93-1004
            913-1051            AA446104.1         21-159              c
FEATURES             Location/Qualifiers
     source          1..1051
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..1051
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /note="deoxythymidylate kinase"
                     /db_xref="GeneID:1841"
                     /db_xref="HGNC:HGNC:3061"
                     /db_xref="MIM:188345"
     exon            1..162
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..671
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /EC_number="2.7.4.9"
                     /note="isoform 1 is encoded by transcript variant 1; dTMP
                     kinase; deoxythymidylate kinase (thymidylate kinase)"
                     /codon_start=1
                     /product="thymidylate kinase isoform 1"
                     /protein_id="NP_036277.2"
                     /db_xref="CCDS:CCDS2552.1"
                     /db_xref="GeneID:1841"
                     /db_xref="HGNC:HGNC:3061"
                     /db_xref="MIM:188345"
                     /translation="MAARRGALIVLEGVDRAGKSTQSRKLVEALCAAGHRAELLRFPE
                     RSTEIGKLLSSYLQKKSDVEDHSVHLLFSANRWEQVPLIKEKLSQGVTLVVDRYAFSG
                     VAFTGAKENFSLDWCKQPDVGLPKPDLVLFLQLQLADAAKRGAFGHERYENGAFQERA
                     LRCFHQLMKDTTLNWKMVDASKSIEAVHEDIRVLSEDAIRTATEKPLGELWK"
     exon            163..271
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /inference="alignment:Splign:2.1.0"
     exon            272..362
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /inference="alignment:Splign:2.1.0"
     exon            363..560
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /inference="alignment:Splign:2.1.0"
     exon            561..1051
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1032..1037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /note="hexamer: AGTAAA"
     polyA_site      1040
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
     polyA_site      1051
                     /gene="DTYMK"
                     /gene_synonym="CDC8; CONPM; PP3731; TMPK; TYMK"
                     /note="major polyA site"
ORIGIN      
        1 gtggagacgc cagcggcggg cggtggacag tcatggcggc ccggcgcggg gctctcatag
       61 tgctggaggg cgtggaccgc gccgggaaga gcacgcagag ccgcaagctg gtggaagcgc
      121 tgtgcgccgc gggccaccgc gccgaactgc tccggttccc ggaaagatca actgaaatcg
      181 gcaaacttct gagttcctac ttgcaaaaga aaagtgacgt ggaggatcac tcggtgcacc
      241 tgcttttttc tgcaaatcgc tgggaacaag tgccgttaat taaggaaaag ttgagccagg
      301 gcgtgaccct cgtcgtggac agatacgcat tttctggtgt ggccttcacc ggtgccaagg
      361 agaatttttc cctagattgg tgtaaacagc cagacgtggg ccttcccaaa cccgacctgg
      421 tcctgttcct ccagttacag ctggcggatg ctgccaagcg gggagcgttt ggccatgagc
      481 gctatgagaa cggggctttc caggagcggg cgctccggtg tttccaccag ctcatgaaag
      541 acacgacttt gaactggaag atggtggatg cttccaaaag catcgaagct gtccatgagg
      601 acatccgcgt gctctctgag gacgccatcc gcactgccac agagaagccg ctgggggagc
      661 tatggaagtg acccaaggct gcccactgga gacgcctctc cctgcagtcc cccgagaggt
      721 gggagactcg cggaaggccc cgtccccagc agagtccaga ccccacaact tcaggagctc
      781 tttcccggca gcagagatct gcaggctgcc tcttctgccc cggagctggg gtgcactggg
      841 gacccccgtg gtggggacct tggcagtgtg gacatgagca gagcgatgga gcagtctcct
      901 gccctctccc ctgtcctgat ggcactctgt tgtattttct tactgaagtt cagtgataac
      961 tctgagcagt ttcattgtga tcactgtaaa tggtaatcag ttggaattct cctaaatgtc
     1021 ttccagacac tagtaaaaaa cgacctgaaa a
//
