LOCUS       NM_025922               1219 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus inosine triphosphatase (nucleoside triphosphate
            pyrophosphatase) (Itpa), transcript variant 1, mRNA.
ACCESSION   NM_025922
VERSION     NM_025922.3
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 1219)
  AUTHORS   Koga,Y., Tsuchimoto,D., Hayashi,Y., Abolhassani,N., Yoneshima,Y.,
            Sakumi,K., Nakanishi,H., Toyokuni,S. and Nakabeppu,Y.
  TITLE     Neural stem cell-specific ITPA deficiency causes neural
            depolarization and epilepsy
  JOURNAL   JCI Insight 5 (22), 140229 (2020)
   PUBMED   33208550
  REMARK    GeneRIF: Neural stem cell-specific ITPA deficiency causes neural
            depolarization and epilepsy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1219)
  AUTHORS   Handley,M.T., Reddy,K., Wills,J., Rosser,E., Kamath,A.,
            Halachev,M., Falkous,G., Williams,D., Cox,P., Meynert,A.,
            Raymond,E.S., Morrison,H., Brown,S., Allan,E., Aligianis,I.,
            Jackson,A.P., Ramsahoye,B.H., von Kriegsheim,A., Taylor,R.W.,
            Finch,A.J. and FitzPatrick,D.R.
  TITLE     ITPase deficiency causes a Martsolf-like syndrome with a lethal
            infantile dilated cardiomyopathy
  JOURNAL   PLoS Genet 15 (3), e1007605 (2019)
   PUBMED   30856165
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1219)
  AUTHORS   Yoneshima,Y., Abolhassani,N., Iyama,T., Sakumi,K., Shiomi,N.,
            Mori,M., Shiomi,T., Noda,T., Tsuchimoto,D. and Nakabeppu,Y.
  TITLE     Deoxyinosine triphosphate induces MLH1/PMS2- and p53-dependent cell
            growth arrest and DNA instability in mammalian cells
  JOURNAL   Sci Rep 6, 32849 (2016)
   PUBMED   27618981
  REMARK    GeneRIF: The authors analysed ITPA-deficient human and mouse cells,
            and revealed that ITPA deficiency induces MLH1/PMS2- and
            p53-dependent growth arrest and DNA instability in mammalian cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1219)
  AUTHORS   Sakumi,K., Abolhassani,N., Behmanesh,M., Iyama,T., Tsuchimoto,D.
            and Nakabeppu,Y.
  TITLE     ITPA protein, an enzyme that eliminates deaminated purine
            nucleoside triphosphates in cells
  JOURNAL   Mutat Res 703 (1), 43-50 (2010)
   PUBMED   20601097
  REMARK    Review article
REFERENCE   5  (bases 1 to 1219)
  AUTHORS   Iyama,T., Abolhassani,N., Tsuchimoto,D., Nonaka,M. and Nakabeppu,Y.
  TITLE     NUDT16 is a (deoxy)inosine diphosphatase, and its deficiency
            induces accumulation of single-strand breaks in nuclear DNA and
            growth arrest
  JOURNAL   Nucleic Acids Res 38 (14), 4834-4843 (2010)
   PUBMED   20385596
REFERENCE   6  (bases 1 to 1219)
  AUTHORS   Glaser,T., Matthews,K.E., Hudson,J.W., Seth,P., Housman,D.E. and
            Crerar,M.M.
  TITLE     Localization of the muscle, liver, and brain glycogen phosphorylase
            genes on linkage maps of mouse chromosomes 19, 12, and 2,
            respectively
  JOURNAL   Genomics 5 (3), 510-521 (1989)
   PUBMED   2575583
REFERENCE   7  (bases 1 to 1219)
  AUTHORS   Taylor,B.A. and Rowe,L.
  TITLE     Localization of the gene encoding the alpha-subunit of the
            acetylcholine receptor on chromosome 2 of the mouse
  JOURNAL   Cytogenet Cell Genet 52 (1-2), 102-103 (1989)
   PUBMED   2558853
REFERENCE   8  (bases 1 to 1219)
  AUTHORS   Taylor,B.A., Walls,D.M. and Wimsatt,M.J.
  TITLE     Localization of the inosine triphosphatase locus (Itp) on
            chromosome 2 of the mouse
  JOURNAL   Biochem Genet 25 (3-4), 267-274 (1987)
   PUBMED   3038074
REFERENCE   9  (bases 1 to 1219)
  AUTHORS   Womack,J.E. and Moll,Y.D.
  TITLE     Gene map of the cow: conservation of linkage with mouse and man
  JOURNAL   J Hered 77 (1), 2-7 (1986)
   PUBMED   3082971
REFERENCE   10 (bases 1 to 1219)
  AUTHORS   Berman,E.J., Nash,W.G., Seuanez,H.N. and O'Brien,S.J.
  TITLE     Chromosomal mapping of enzyme loci in the domestic cat: GSR to C2,
            ADA and ITPA to A3, and LDHA-ACP2 to D1
  JOURNAL   Cytogenet Cell Genet 41 (2), 114-120 (1986)
   PUBMED   3007037
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK153806.1 and BC026508.1.
            
            On Apr 24, 2018 this sequence version replaced NM_025922.2.
            
            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 :: BC026508.1, AK008279.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-39                AK153806.1         2-40
            40-1219             BC026508.1         1-1180
FEATURES             Location/Qualifiers
     source          1..1219
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 63.24 cM"
     gene            1..1219
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /note="inosine triphosphatase (nucleoside triphosphate
                     pyrophosphatase)"
                     /db_xref="GeneID:16434"
                     /db_xref="MGI:MGI:96622"
     exon            1..134
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..665
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /EC_number="3.6.1.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nucleoside triphosphate pyrophosphatase;
                     nucleoside-triphosphate diphosphatase; non-standard purine
                     NTP pyrophosphatase; non-canonical purine NTP
                     pyrophosphatase"
                     /codon_start=1
                     /product="inosine triphosphate pyrophosphatase isoform 1"
                     /protein_id="NP_080198.2"
                     /db_xref="CCDS:CCDS16748.1"
                     /db_xref="GeneID:16434"
                     /db_xref="MGI:MGI:96622"
                     /translation="MAASLVGKKIVFVTGNAKKLEEVIQILGDNFPCTLEAQKIDLPE
                     YQGEPDEISIQKCREAARQVQGPVLVEDTCLCFNALGGLPGPYIKWFLQKLKPEGLHQ
                     LLAGFEDKSAYALCTFALSTGDPSQPVLLFRGQTSGQIVMPRGSRDFGWDPCFQPDGY
                     EQTYAEMPKSEKNTISHRFRALHKLQEYFSVAAGAGDH"
     exon            135..192
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            193..257
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            258..331
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            332..363
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            364..479
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            480..556
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            557..1198
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1176..1181
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /note="hexamer: AATAAA"
     polyA_site      1198
                     /gene="Itpa"
                     /gene_synonym="2010016I08Rik; Itp; ITPase; NTPase"
                     /note="major polyA site"
ORIGIN      
        1 gcctccggcc ggaagtacct tcccggcaaa gggttactgg gcattctgga ccgtaaccct
       61 cgcttgcaat ggctgcgtct ttggtcggga agaagatcgt gtttgtgacg ggaaacgcca
      121 agaagctgga ggaggtcatt cagattctcg gagataattt tccatgcact ttggaggctc
      181 agaaaattga cctgcctgag taccagggag aaccggatga gatttccata cagaagtgtc
      241 gggaggcagc tcgacaggtg cagggccctg tcctggtgga agatacctgt ctgtgcttta
      301 acgcacttgg gggactgcct ggcccctaca taaaatggtt cctacagaag ctgaagcctg
      361 aaggtctcca ccagctcctg gccggctttg aagacaaatc ggcctatgca ctctgcacat
      421 tcgctctcag cactggggac ccaagccagc cagtgcttct cttcagaggc cagacctcgg
      481 gacagattgt gatgccacga ggcagccggg actttggctg ggatccctgc tttcagcctg
      541 atggatatga gcaaacgtat gcagagatgc caaagtctga gaagaacacc atttctcatc
      601 ggttccgggc cctgcacaag ctacaggagt actttagtgt ggctgctggg gctggtgacc
      661 actagcgcca tgggtagggg ctagtgcaga actccctagg aggcaggcac tcctgtgagg
      721 ctttctctgg gttcccctct gccaggagat ccaggcagca tcaggagcca gttcttggaa
      781 gagcagttgg ctctgcatag gggaactctg agccagttga tactaaactc ttgtcccttg
      841 gattcaagag tttcctttga ccaggcatgg tagcgcacac ttttaatccc agaatttggg
      901 aggcagaggc aaacagatct ttgtgagctc agggccagcc tggtttacat agtgaattcc
      961 tggatagcca gagctacata gtgagacctt gtctcaaaaa caaaacaaag aaaccaaaac
     1021 aacaacaaca acaaaaagtt gttcttgtag cctctggctc tgggatcctg ggaaaatttt
     1081 ggttgtttgt tcttatatgg ttgaaggttt ggcaaagaaa cacacaactt ttggttttag
     1141 aatatagcaa atgtaaattc tagaagactt tccaaaataa atggtgtgtc tgttttgaaa
     1201 aaaaaaaaaa aaaaaaaaa
//
