LOCUS       NM_027869               2647 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus polyribonucleotide nucleotidyltransferase 1 (Pnpt1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_027869 XM_003689261 XM_904295 XM_918710 XM_918722 XM_918738
            XM_918754 XM_918766 XM_918777
VERSION     NM_027869.2
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 2647)
  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 2647)
  AUTHORS   Hsu,C.G., Li,W., Sowden,M., Chavez,C.L. and Berk,B.C.
  TITLE     Pnpt1 mediates NLRP3 inflammasome activation by MAVS and metabolic
            reprogramming in macrophages
  JOURNAL   Cell Mol Immunol 20 (2), 131-142 (2023)
   PUBMED   36596874
  REMARK    GeneRIF: Pnpt1 mediates NLRP3 inflammasome activation by MAVS and
            metabolic reprogramming in macrophages.
REFERENCE   3  (bases 1 to 2647)
  AUTHORS   Laisk,T., Lepamets,M., Koel,M., Abner,E. and Magi,R.
  CONSRTM   Estonian Biobank Research Team
  TITLE     Genome-wide association study identifies five risk loci for
            pernicious anemia
  JOURNAL   Nat Commun 12 (1), 3761 (2021)
   PUBMED   34145262
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2647)
  AUTHORS   Ingham,N.J., Pearson,S.A., Vancollie,V.E., Rook,V., Lewis,M.A.,
            Chen,J., Buniello,A., Martelletti,E., Preite,L., Lam,C.C.,
            Weiss,F.D., Powis,Z., Suwannarat,P., Lelliott,C.J., Dawson,S.J.,
            White,J.K. and Steel,K.P.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2647)
  AUTHORS   Shimada,E., Ahsan,F.M., Nili,M., Huang,D., Atamdede,S., TeSlaa,T.,
            Case,D., Yu,X., Gregory,B.D., Perrin,B.J., Koehler,C.M. and
            Teitell,M.A.
  TITLE     PNPase knockout results in mtDNA loss and an altered metabolic gene
            expression program
  JOURNAL   PLoS One 13 (7), e0200925 (2018)
   PUBMED   30024931
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2647)
  AUTHORS   von Ameln,S., Wang,G., Boulouiz,R., Rutherford,M.A., Smith,G.M.,
            Li,Y., Pogoda,H.M., Nurnberg,G., Stiller,B., Volk,A.E., Borck,G.,
            Hong,J.S., Goodyear,R.J., Abidi,O., Nurnberg,P., Hofmann,K.,
            Richardson,G.P., Hammerschmidt,M., Moser,T., Wollnik,B.,
            Koehler,C.M., Teitell,M.A., Barakat,A. and Kubisch,C.
  TITLE     A mutation in PNPT1, encoding mitochondrial-RNA-import protein
            PNPase, causes hereditary hearing loss
  JOURNAL   Am J Hum Genet 91 (5), 919-927 (2012)
   PUBMED   23084290
REFERENCE   7  (bases 1 to 2647)
  AUTHORS   Wang,G., Shimada,E., Zhang,J., Hong,J.S., Smith,G.M., Teitell,M.A.
            and Koehler,C.M.
  TITLE     Correcting human mitochondrial mutations with targeted RNA import
  JOURNAL   Proc Natl Acad Sci U S A 109 (13), 4840-4845 (2012)
   PUBMED   22411789
REFERENCE   8  (bases 1 to 2647)
  AUTHORS   Wang,G., Chen,H.W., Oktay,Y., Zhang,J., Allen,E.L., Smith,G.M.,
            Fan,K.C., Hong,J.S., French,S.W., McCaffery,J.M., Lightowlers,R.N.,
            Morse,H.C. 3rd, Koehler,C.M. and Teitell,M.A.
  TITLE     PNPASE regulates RNA import into mitochondria
  JOURNAL   Cell 142 (3), 456-467 (2010)
   PUBMED   20691904
  REMARK    GeneRIF: The data support an unanticipated role for PNPASE in
            mediating the translocation of RNAs into mitochondria
REFERENCE   9  (bases 1 to 2647)
  AUTHORS   Chen,H.W., Rainey,R.N., Balatoni,C.E., Dawson,D.W., Troke,J.J.,
            Wasiak,S., Hong,J.S., McBride,H.M., Koehler,C.M., Teitell,M.A. and
            French,S.W.
  TITLE     Mammalian polynucleotide phosphorylase is an intermembrane space
            RNase that maintains mitochondrial homeostasis
  JOURNAL   Mol Cell Biol 26 (22), 8475-8487 (2006)
   PUBMED   16966381
REFERENCE   10 (bases 1 to 2647)
  AUTHORS   Raijmakers,R., Egberts,W.V., van Venrooij,W.J. and Pruijn,G.J.
  TITLE     Protein-protein interactions between human exosome components
            support the assembly of RNase PH-type subunits into a six-membered
            PNPase-like ring
  JOURNAL   J Mol Biol 323 (4), 653-663 (2002)
   PUBMED   12419256
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX000351.17, AK149419.1 and BG092250.1.
            
            On Jul 4, 2018 this sequence version replaced NM_027869.1.
            
            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 :: AJ507387.1, AK149419.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849384
                                           [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: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 BX000351.17        154287-154293
            8-2600              AK149419.1         2-2594
            2601-2647           BG092250.1         65-111              c
FEATURES             Location/Qualifiers
     source          1..2647
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 16.46 cM"
     gene            1..2647
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /note="polyribonucleotide nucleotidyltransferase 1"
                     /db_xref="GeneID:71701"
                     /db_xref="MGI:MGI:1918951"
     exon            1..175
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..2366
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /EC_number="2.7.7.8"
                     /note="polyribonucleotide nucleotidyltransferase 1,
                     mitochondrial; PNPase 1; PNPase old-35; 3'-5' RNA
                     exonuclease OLD35; polynucleotide phosphorylase 1;
                     polynucleotide phosphorylase-like protein"
                     /codon_start=1
                     /product="polyribonucleotide nucleotidyltransferase 1,
                     mitochondrial precursor"
                     /protein_id="NP_082145.1"
                     /db_xref="CCDS:CCDS24490.1"
                     /db_xref="GeneID:71701"
                     /db_xref="MGI:MGI:1918951"
                     /translation="MAACRLCCLCPCLRPLGCGPLGRPGRNRALSYLQMRALWSSTGS
                     RAVTVDLGHRKLEISSGKLARFADGCAVIQSGDTAVMVTAVSKTKASPSQFMPLVVDY
                     RQKAAAAGRIPTNYLRREIGSSDREVLTSRVIDRSIRPLFPAGYFYDTQVLCNLLAVD
                     GINEPDILAVNGASVALSLSDIPWNGPVGAVRIGMIDGECVVNPTRREMSSSTLNLVV
                     AGAPKSQIVMLEASAENILQQDFCHAIKVGVKYTQQIIQGIQQLVKEIGVAKRTPQKI
                     FTPSAEIVKYTKIIAMEKLYAVFTDYEHDKVSRDEAVNKIRLDTEEHLKEKFPEVDQF
                     EIIESFNIVAKEVFRSIILNEYKRCDGRDLTSLRNISCEVDMFKTLHGSALFQRGQTQ
                     VLCTVTFDSLESSIKSDQIITAINGVKDKNFMLHYEFPPYATNETGKVTGVNRRELGH
                     GALAEKALCPVIPKDFPFTIRVTSEVLESNGSSSMASACGGSLALMDAGVPISSAVAG
                     VAVGLVTKTNPEKGEIEDYRLLTDILGIEDYNGDMDFKIAGTNKGITALQADIKLPGV
                     PIKIIMEAIQQASVAKKEILQIMNKTISKPRASRKENGPVVETVKVPLSKRAKFVGPG
                     GYHLKKLQAETGVTISQVDEETFSIFAPTPTAMHEARDFITEICRDDQEQQLEFGAVY
                     TATITEIRDTGVMVKLYPNMTAVLLHNSQLDQRKIKHPTALGLEVGQEIQVKYFGRDP
                     ADGRMRLSRKVLQSPATTALKTLNDRSSIVMGEPVSQSSNSNP"
     exon            176..236
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            237..311
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            312..417
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            418..467
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            468..531
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            532..579
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            580..693
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            694..880
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            881..932
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            933..990
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1087
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1190
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1261
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1298
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1365
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1455
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1509
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1616
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1688
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1752
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1753..1836
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1837..1920
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2027
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            2028..2083
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            2084..2162
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            2163..2210
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     exon            2211..2647
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2539..2544
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /note="hexamer: AATAAA"
     polyA_site      2560
                     /gene="Pnpt1"
                     /gene_synonym="1200003F12Rik; Old35; PNPase; Pnptl1"
                     /note="major polyA site"
ORIGIN      
        1 acgctctggg tgtcatggcg gcctgcaggc tgtgctgctt gtgcccgtgc ctccgaccgc
       61 tgggctgcgg ccccctcggc cggcccgggc ggaatcgggc actcagctat ttgcagatgc
      121 gagcgttgtg gagcagcacc ggatccagag cggtgactgt agacctggga cacagaaaat
      181 tagaaatatc ctctgggaaa ctggcaagat ttgctgatgg ctgtgctgtg atacagtcag
      241 gcgatactgc agtaatggtc acggcagtca gcaaaacaaa agcttcgcct tcccaattca
      301 tgccgttggt ggtggactac cgacagaagg ctgctgcagc aggcagaatc cccacaaact
      361 accttagaag ggagattggc tcctctgaca gagaggttct tacaagtcga gtaatagatc
      421 gttcaattcg ccctctcttt ccagccggct atttttatga tactcaggtt ctctgtaatc
      481 tgctagcagt agatggcatc aatgaacctg atatcctagc agttaatggt gcttctgtag
      541 ccctctcctt atcagatatc ccttggaatg gacctgttgg ggcagtacga ataggaatga
      601 ttgatggaga atgtgtcgtt aacccaacaa ggagagaaat gtcttctagc actttaaatt
      661 tagtagttgc cggagcacct aaaagccaaa ttgttatgtt ggaagcctct gcagaaaata
      721 ttctacagca ggacttttgc catgctatca aagttggggt gaagtataca cagcagataa
      781 ttcagggcat ccagcagttg gtaaaagaaa tcggtgttgc caagaggaca ccgcagaaga
      841 tatttactcc ttctgcagag attgtgaagt acacgaagat aattgccatg gagaaactct
      901 atgcggtttt tacagattat gaacatgata aagtttccag ggatgaagct gttaacaaga
      961 taagattaga tacagaggag catctaaagg aaaaatttcc agaggttgac caatttgaaa
     1021 taatagaatc cttcaacatt gttgcaaagg aggttttccg aagtattatt ttgaatgaat
     1081 acaaaaggtg tgatggaaga gatctgactt cacttaggaa tataagttgt gaggtcgata
     1141 tgtttaaaac acttcatgga tcagcattat ttcagagagg acaaacacag gtactctgta
     1201 ctgttacatt tgattcatta gaatccagta ttaagtcaga tcaaattata acagctataa
     1261 atggggtaaa agataaaaat ttcatgctgc actatgagtt ccctccttat gcaaccaatg
     1321 aaaccggcaa agttactggt gtgaatcgaa gagaacttgg acatggtgct cttgccgaga
     1381 aagctttgtg tcctgttatt cccaaagatt ttccttttac cataagagtt acatctgaag
     1441 tcctcgaatc aaatgggtca tcttctatgg catctgcatg tggtggaagt ttggcattaa
     1501 tggatgcagg ggtcccaatt tcatctgctg ttgcaggtgt agcagtggga ttggttacca
     1561 aaaccaatcc agagaaaggt gaaatagaag actaccgttt gctaacagat attctgggaa
     1621 ttgaagatta taatggtgac atggatttca aaatagccgg tacaaataaa ggaataactg
     1681 cattacaggc tgatattaag ttacctggag taccaattaa aattataatg gaagccatcc
     1741 aacaagcgtc agtggcaaag aaggagatac tgcagataat gaacaaaacg atttcaaaac
     1801 ctcgagcatc aagaaaagaa aatggaccag ttgtagaaac agtaaaggtt ccattatcaa
     1861 aacgagcaaa attcgttggg cctggtggat atcacttaaa aaaactccag gctgagacag
     1921 gtgtaacaat tagtcaggtt gatgaagaaa ccttctccat atttgcacca acacctactg
     1981 caatgcatga agcaagagat ttcattacag aaatttgcag agatgatcaa gagcaacaat
     2041 tagaatttgg agcagtttat accgcgacaa taactgaaat cagagacact ggagtgatgg
     2101 taaaactgta tccaaacatg actgcagtgc tgcttcataa ttcacaactt gaccaacgaa
     2161 agattaaaca tcccactgcc ctaggactag aggttggcca agaaattcag gtcaaatact
     2221 ttggccgtga tccagctgat ggaagaatga ggctttctcg taaagtactt cagtctccag
     2281 ctacaactgc tctcaaaact ctaaatgata gaagcagcat tgtaatggga gagcctgtct
     2341 cacagtcatc taactctaac ccttgactcc ttttgaaata atattcaatg gcgatattct
     2401 gtggagcaaa ttttaacagt cctgcttact gtgtagattt atatataatt tgagtataat
     2461 tatttgtatt aaaatgatca tgtgcctttt ttatttcagg agcaacctat atttgcttat
     2521 tcttatttgg attaaatcaa taaatattta ttattaaaaa taagctattt ttatatctta
     2581 ggaaagagaa cctttctgtt cctataattg taaactattg aaaaataata gatcatgtat
     2641 acctccc
//
