LOCUS       NM_148889               1439 bp    mRNA    linear   ROD 24-JUN-2024
DEFINITION  Rattus norvegicus aprataxin (Aptx), mRNA.
ACCESSION   NM_148889
VERSION     NM_148889.2
KEYWORDS    RefSeq.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1439)
  AUTHORS   Castellotti,B., Mariotti,C., Rimoldi,M., Fancellu,R., Plumari,M.,
            Caimi,S., Uziel,G., Nardocci,N., Moroni,I., Zorzi,G., Pareyson,D.,
            Di Bella,D., Di Donato,S., Taroni,F. and Gellera,C.
  TITLE     Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent
            aprataxin mutations, coenzyme Q10 analyses, and clinical findings
            in Italian patients
  JOURNAL   Neurogenetics 12 (3), 193-201 (2011)
   PUBMED   21465257
REFERENCE   2  (bases 1 to 1439)
  AUTHORS   Becherel,O.J., Jakob,B., Cherry,A.L., Gueven,N., Fusser,M.,
            Kijas,A.W., Peng,C., Katyal,S., McKinnon,P.J., Chen,J., Epe,B.,
            Smerdon,S.J., Taucher-Scholz,G. and Lavin,M.F.
  TITLE     CK2 phosphorylation-dependent interaction between aprataxin and
            MDC1 in the DNA damage response
  JOURNAL   Nucleic Acids Res 38 (5), 1489-1503 (2010)
   PUBMED   20008512
REFERENCE   3  (bases 1 to 1439)
  AUTHORS   Lieber,M.R.
  TITLE     The mechanism of double-strand DNA break repair by the
            nonhomologous DNA end-joining pathway
  JOURNAL   Annu Rev Biochem 79, 181-211 (2010)
   PUBMED   20192759
  REMARK    Review article
REFERENCE   4  (bases 1 to 1439)
  AUTHORS   Ferrarini,M., Squintani,G., Cavallaro,T., Ferrari,S., Rizzuto,N.
            and Fabrizi,G.M.
  TITLE     A novel mutation of aprataxin associated with ataxia ocular apraxia
            type 1: phenotypical and genotypical characterization
  JOURNAL   J Neurol Sci 260 (1-2), 219-224 (2007)
   PUBMED   17572444
REFERENCE   5  (bases 1 to 1439)
  AUTHORS   Takahashi,T., Tada,M., Igarashi,S., Koyama,A., Date,H.,
            Yokoseki,A., Shiga,A., Yoshida,Y., Tsuji,S., Nishizawa,M. and
            Onodera,O.
  TITLE     Aprataxin, causative gene product for EAOH/AOA1, repairs DNA
            single-strand breaks with damaged 3'-phosphate and
            3'-phosphoglycolate ends
  JOURNAL   Nucleic Acids Res 35 (11), 3797-3809 (2007)
   PUBMED   17519253
REFERENCE   6  (bases 1 to 1439)
  AUTHORS   Kijas,A.W., Harris,J.L., Harris,J.M. and Lavin,M.F.
  TITLE     Aprataxin forms a discrete branch in the HIT (histidine triad)
            superfamily of proteins with both DNA/RNA binding and nucleotide
            hydrolase activities
  JOURNAL   J Biol Chem 281 (20), 13939-13948 (2006)
   PUBMED   16547001
REFERENCE   7  (bases 1 to 1439)
  AUTHORS   Gueven,N., Becherel,O.J., Kijas,A.W., Chen,P., Howe,O.,
            Rudolph,J.H., Gatti,R., Date,H., Onodera,O., Taucher-Scholz,G. and
            Lavin,M.F.
  TITLE     Aprataxin, a novel protein that protects against genotoxic stress
  JOURNAL   Hum Mol Genet 13 (10), 1081-1093 (2004)
   PUBMED   15044383
REFERENCE   8  (bases 1 to 1439)
  AUTHORS   Sano,Y., Date,H., Igarashi,S., Onodera,O., Oyake,M., Takahashi,T.,
            Hayashi,S., Morimatsu,M., Takahashi,H., Makifuchi,T., Fukuhara,N.
            and Tsuji,S.
  TITLE     Aprataxin, the causative protein for EAOH is a nuclear protein with
            a potential role as a DNA repair protein
  JOURNAL   Ann Neurol 55 (2), 241-249 (2004)
   PUBMED   14755728
REFERENCE   9  (bases 1 to 1439)
  AUTHORS   Shimazaki,H., Takiyama,Y., Sakoe,K., Ikeguchi,K., Niijima,K.,
            Kaneko,J., Namekawa,M., Ogawa,T., Date,H., Tsuji,S., Nakano,I. and
            Nishizawa,M.
  TITLE     Early-onset ataxia with ocular motor apraxia and hypoalbuminemia:
            the aprataxin gene mutations
  JOURNAL   Neurology 59 (4), 590-595 (2002)
   PUBMED   12196655
REFERENCE   10 (bases 1 to 1439)
  AUTHORS   Moreira,M.C., Barbot,C., Tachi,N., Kozuka,N., Uchida,E., Gibson,T.,
            Mendonca,P., Costa,M., Barros,J., Yanagisawa,T., Watanabe,M.,
            Ikeda,Y., Aoki,M., Nagata,T., Coutinho,P., Sequeiros,J. and
            Koenig,M.
  TITLE     The gene mutated in ataxia-ocular apraxia 1 encodes the new
            HIT/Zn-finger protein aprataxin
  JOURNAL   Nat Genet 29 (2), 189-193 (2001)
   PUBMED   11586300
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC078716.1.
            
            [WARNING] On Mar 18, 2025 this sequence was replaced by
            NM_148889.3.
            
            On Aug 8, 2004 this sequence version replaced NM_148889.1.
            
            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 :: BC078716.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMD00132261,
                                           SAMD00132262 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1439
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="5"
                     /map="5q22"
     gene            1..1439
                     /gene="Aptx"
                     /note="aprataxin"
                     /db_xref="GeneID:259271"
                     /db_xref="RGD:628740"
     exon            1..138
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     exon            139..328
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     exon            329..465
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     CDS             336..1325
                     /gene="Aptx"
                     /EC_number="3.6.1.72"
                     /EC_number="3.6.1.71"
                     /note="FHA-HIT; forkhead-associated domain histidine
                     triad-like protein"
                     /codon_start=1
                     /product="aprataxin"
                     /protein_id="NP_683687.1"
                     /db_xref="GeneID:259271"
                     /db_xref="RGD:628740"
                     /translation="MRVCWLVRQDCWHQRIKLPHLEAVVIGRSPETKITDKKCSRQQV
                     QLKAECNKRYVNVKQMGVNPTSIDEVVIGKDREMKLLPGQVLHMVNELYPYMVEFEEV
                     AESPNVTQRKRKRPDCDSQEMEAEAGASPSQCSVSPKTGKHGAAKEESLGHWSQGLKI
                     SMKDPKMQVYKDDQVVVIKDKYPKARHHWLVLPWASISSLKVVTSEHLELLKHMHAVG
                     EKVIADFTGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLE
                     SQAVIKMVQEAGRVTVKDGTCELLKLPLRCHECQQLLPSIPQLKEHLRKHWGG"
     exon            466..512
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     exon            513..779
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     exon            780..839
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1066
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1170
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1417
                     /gene="Aptx"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcctgctttc gtagctggtt gggttagaag ccagcagggg cgtttggccg gggctgctaa
       61 cccggagcgg ataccttgaa ggtggagttc gaggtttcct tctgggtgga ccaagcccca
      121 ccctttcgtc ctgttcagat ggtaacaata ttctcatctt taagaatatg atttctttga
      181 tcttcatttc tgaatacagc aatcgtgcag aaggcctgca tgctgcttgg gcaggaggca
      241 agatatcccc caaggtacca gaagctcgaa cattgataag gctctagagc agtggctctc
      301 gaccccttcc ccaggggtca catatcagag ccaagatgcg ggtgtgctgg ttggtgagac
      361 aggactgctg gcaccagcga atcaaacttc cccatttaga agctgttgtg attggtcgaa
      421 gcccggagac caagatcaca gataagaaat gttcccgaca gcaagtacag ttgaaagcgg
      481 agtgtaacaa gagatatgtc aacgttaagc agatgggggt caatcccacc agcattgacg
      541 aagtcgtcat tgggaaggac cgggagatga agctgctgcc tggtcaggtt ctccacatgg
      601 tgaatgaact ttatccatac atggtggagt ttgaggaggt ggcagagagc cctaacgtaa
      661 cacagaggaa gagaaagagg ccagactgtg atagtcagga gatggaagct gaggctgggg
      721 ccagccccag ccagtgctct gtgtccccta agacgggcaa gcatggagcc gccaaggagg
      781 aatcactggg ccactggagt caaggcttga agatatctat gaaagacccc aaaatgcagg
      841 tttataagga tgatcaggtg gtggtgatta aggataaata ccccaaggcc cggcaccact
      901 ggctggtctt accatgggcc tccatttcca gtctgaaggt tgtgaccagt gaacacctcg
      961 aacttctcaa acacatgcac gcagtagggg aaaaggtgat agcagatttt actggatcca
     1021 gcaaactgcg cttccgactg ggttaccatg ccattcccag catgagccat gtacatcttc
     1081 atgtgatcag ccaggatttt gattctcctt gccttaaaaa caaaaagcat tggaattctt
     1141 tcaatacaga atattttctg gagtcacaag ctgtgatcaa gatggttcag gaagctggca
     1201 gagtgactgt taaagatggg acttgcgaac tcttgaagct gcctctccgt tgccatgagt
     1261 gtcagcagct gctgccttcc atcccacagc tgaaggagca cctcaggaag cactggggcg
     1321 ggtgacactc gccttggtga ccgagtgcag tgctagcatc attctgcatt gcctgcgctc
     1381 cgttcagtcc tgaactaaag catgcagctc ttcaaaaaaa aaaaaaaaaa aaaaaaaaa
//
