LOCUS       NM_029705               5376 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus ataxin 3 (Atxn3), transcript variant 1, mRNA.
ACCESSION   NM_029705
VERSION     NM_029705.3
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 5376)
  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 5376)
  AUTHORS   Luo,H., Todi,S.V., Paulson,H.L. and Costa,M.D.C.
  TITLE     Regional and age-dependent changes in ubiquitination in cellular
            and mouse models of spinocerebellar ataxia type 3
  JOURNAL   Front Mol Neurosci 16, 1154203 (2023)
   PUBMED   37122622
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5376)
  AUTHORS   Schuster,K.H., DiFranco,D.M., Putka,A.F., Mato,J.P., Jarrah,S.I.,
            Stec,N.R., Sundararajan,V.O. and McLoughlin,H.S.
  TITLE     Disease-associated oligodendrocyte signatures are spatiotemporally
            dysregulated in spinocerebellar ataxia type 3
  JOURNAL   Front Neurosci 17, 1118429 (2023)
   PUBMED   36875652
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5376)
  AUTHORS   Schuster,K.H., Putka,A.F. and McLoughlin,H.S.
  TITLE     Pathogenetic Mechanisms Underlying Spinocerebellar Ataxia Type 3
            Are Altered in Primary Oligodendrocyte Culture
  JOURNAL   Cells 11 (16), 2615 (2022)
   PUBMED   36010688
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5376)
  AUTHORS   Abeditashi,M., Weber,J.J., Pereira Sena,P., Velic,A., Kalimeri,M.,
            Incebacak Eltemur,R.D., Schmidt,J., Hubener-Schmid,J., Hauser,S.,
            Macek,B., Riess,O. and Schmidt,T.
  TITLE     KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through
            activation of the mitochondrial protease CLPP
  JOURNAL   Cell Mol Life Sci 79 (8), 401 (2022)
   PUBMED   35794401
  REMARK    GeneRIF: KPNB1 modulates the Machado-Joseph disease protein
            ataxin-3 through activation of the mitochondrial protease CLPP.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5376)
  AUTHORS   Cemal,C.K., Carroll,C.J., Lawrence,L., Lowrie,M.B., Ruddle,P.,
            Al-Mahdawi,S., King,R.H., Pook,M.A., Huxley,C. and Chamberlain,S.
  TITLE     YAC transgenic mice carrying pathological alleles of the MJD1 locus
            exhibit a mild and slowly progressive cerebellar deficit
  JOURNAL   Hum Mol Genet 11 (9), 1075-1094 (2002)
   PUBMED   11978767
REFERENCE   7  (bases 1 to 5376)
  AUTHORS   Orr,H.T.
  TITLE     The ins and outs of a polyglutamine neurodegenerative disease:
            spinocerebellar ataxia type 1 (SCA1)
  JOURNAL   Neurobiol Dis 7 (3), 129-134 (2000)
   PUBMED   10860780
  REMARK    Review article
REFERENCE   8  (bases 1 to 5376)
  AUTHORS   Lin,X., Cummings,C.J. and Zoghbi,H.Y.
  TITLE     Expanding our understanding of polyglutamine diseases through mouse
            models
  JOURNAL   Neuron 24 (3), 499-502 (1999)
   PUBMED   10595501
  REMARK    Review article
REFERENCE   9  (bases 1 to 5376)
  AUTHORS   Ikeda,H., Yamaguchi,M., Sugai,S., Aze,Y., Narumiya,S. and
            Kakizuka,A.
  TITLE     Expanded polyglutamine in the Machado-Joseph disease protein
            induces cell death in vitro and in vivo
  JOURNAL   Nat Genet 13 (2), 196-202 (1996)
   PUBMED   8640226
REFERENCE   10 (bases 1 to 5376)
  AUTHORS   Kawaguchi,Y., Okamoto,T., Taniwaki,M., Aizawa,M., Inoue,M.,
            Katayama,S., Kawakami,H., Nakamura,S., Nishimura,M., Akiguchi,I. et
            al.
  TITLE     CAG expansions in a novel gene for Machado-Joseph disease at
            chromosome 14q32.1
  JOURNAL   Nat Genet 8 (3), 221-228 (1994)
   PUBMED   7874163
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC049743.1, AK030842.1, BX526801.1 and BQ174976.1.
            
            On Nov 19, 2009 this sequence version replaced NM_029705.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (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 :: AK030842.1, SRR13862062.226290.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##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
            1-958               BC049743.1         1-958
            959-4707            AK030842.1         899-4647
            4708-4800           BX526801.1         400-492
            4801-5376           BQ174976.1         1-576               c
FEATURES             Location/Qualifiers
     source          1..5376
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 51.32 cM"
     gene            1..5376
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="ataxin 3"
                     /db_xref="GeneID:110616"
                     /db_xref="MGI:MGI:1099442"
     exon            1..110
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1154
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /EC_number="3.4.19.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     machado-Joseph disease protein 1 homolog; Machado-Joseph
                     disease (spinocerebellar ataxia 3, olivopontocerebellar
                     ataxia 3, autosomal dominant, ataxin 3) homolog"
                     /codon_start=1
                     /product="ataxin-3 isoform 1"
                     /protein_id="NP_083981.2"
                     /db_xref="CCDS:CCDS26115.1"
                     /db_xref="GeneID:110616"
                     /db_xref="MGI:MGI:1099442"
                     /translation="MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEE
                     RLRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQRL
                     RIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGY
                     SIFVVKGDLPDCEADQLLQMIKVQQMHRPKLIGEELAHLKEQSALKADLERVLEAADG
                     SGIFDEDEDDLQRALAISRQEIDMEDEEADLRRAIQLSMQGSSRSMCENSPQTSSPDL
                     SSEELRRRREAYFEKQQQQQQEVDRPGPLSYPRERPTTSSGGRRSDQGGDAVSEEDML
                     RAAVTMSLETAKDNLKAERKK"
     exon            111..275
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            276..320
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            321..406
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            407..473
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            474..561
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            562..694
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            695..861
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            862..958
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1056
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..5360
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5336..5341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="hexamer: AATAAA"
     polyA_site      5360
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="major polyA site"
ORIGIN      
        1 ggaccggggc tgaggggtgg ggccgggggc ggagctgctg gagggggctg ctccgcgccg
       61 gggccgttgg ctccagacaa ataaacatgg agtccatctt ccacgagaaa caagaaggct
      121 cactttgtgc tcagcattgc ctgaataacc tattgcaagg agagtatttt agccctgtgg
      181 agctatcctc aattgcacac cagctggatg aagaggagag gctgagaatg gcagaagggg
      241 gagtcactag tgaagactac cgcacatttt tacagcagcc ttctggaaat atggatgaca
      301 gcggcttttt ctctattcaa gttataagca atgctttgaa agtttggggt ttagaactaa
      361 tcctgttcaa cagtccagag taccagaggc tcagaattga tcctataaac gaaagatcct
      421 ttatatgcaa ttataaagaa cactggttta cagttagaaa attaggcaag cagtggttta
      481 acttgaattc tctgttgacg ggtccagaat taatatcaga tacatacctc gcactattct
      541 tggctcaatt acagcaagaa ggttattcta tatttgttgt taagggtgat ctgccagatt
      601 gtgaagctga ccaacttttg cagatgatca aggtccaaca gatgcatcga ccaaaactta
      661 ttggagagga acttgcacat ctgaaagagc agagtgccct caaagcagac ctggagcgcg
      721 tcttagaagc agctgatggg tcgggcatat ttgatgaaga tgaggatgat ttacagaggg
      781 ctctagccat aagtcgccag gaaatcgaca tggaggatga agaagctgat ctccgcaggg
      841 ccattcagct cagtatgcaa ggtagttcca gaagtatgtg tgaaaatagt ccacagacat
      901 caagtccaga tctctcttca gaagagctgc ggaggagacg agaagcctac tttgaaaagc
      961 aacagcagca gcagcaggag gtagaccgac ctggacccct ttcatatcca cgtgaaagac
     1021 cgaccacaag ttcaggagga cgtaggagcg accaaggagg cgacgctgtg agtgaagagg
     1081 acatgcttcg ggcagctgtg accatgtctt tagaaactgc taaagacaac ttgaaagcag
     1141 aaagaaaaaa atagtacctt taaaagtcat tttgctactc acactttgta acattgtctg
     1201 tgtgattaca gtgtaagggc cactttggca gtatgttcac cagaagagat aaagacactg
     1261 tagtggtttg taagcagaaa ggcagaaatg tgtcatagga ctaaggaacg atcgagatac
     1321 tagccaaaga ggcagtcagc aatgaaagaa acttttctaa atgtcccgtt ttgtttttca
     1381 aatgtgcaat atctgactga aattatggaa tttttgttgg ctcttttgga ccaactgatt
     1441 agctcttgcc acagaacttg atcctataat gtttcgtttt ctctctgcat tgggggtggc
     1501 ttggctcact tgagctttta cttcatttca gacctacctt ttatgaaatg tcttttatat
     1561 gtcttgttac agaaagatca gtctgtcttc tcatacatat gtcgggcacg tggatgcttc
     1621 ctggtggtat tttctctaat gtggtgatgt gttgctttta aagcctttgt tagtgggatc
     1681 acatttccta attgtgctgc attcctctac tctgcagtca gctctgttct tgtaactgag
     1741 cacgtgagcg tgctctgtct ggatgccctg agagtggctg actcctggct ggagcccttc
     1801 ctgtaccttc cttcctctct tctccagctg agaaaagagg aggcagagga cacaaacaga
     1861 tttccttcta cgtaacatgc accatgaatg caccacagga gaaactcgcc cttcagtcct
     1921 ggtggtgggt ttgtcctagt ttttcatctg tgacaggagc tttgtgttct aatcacgatt
     1981 aagtcctgga aaatagatgc ctgcttcact ttctaaaaat taaaaatatt tttttttctt
     2041 tttctagtag aaaataggct gctaggatga tggtctagaa tctgaaagta atttactaat
     2101 aaaatatatt taaataatac tgtgggttga cccttgcaat catgtttaaa tcgcttaaga
     2161 attacagaag tcacaaagct taaagggtct gtttgtaaat aggaaagtcc ttagttttga
     2221 taaacattaa gcaggatgca gagctagtct tgctgggtca atacgtggta tgatttgggt
     2281 ggaaattaac tctgtgtctt tgtcatggtg tcatagatac cctgatacct gctttcccct
     2341 ccctcccctt tgaagcccct ttgaatggtg acttgtacat aggtaaagtc caagaagaga
     2401 ttgtagccag cttaggaagg ggcagcatgc tatagtgctc tactggtgtg tgctctgcac
     2461 acgtttttat cagggaaagt tttggatgta ggatttattg ctgtctaact gaaaaagata
     2521 caaatatttt tatttatgct tatgaaatag ctttttcttg ataggatgga tgtttggttt
     2581 ggtttggttg tgcgagggat tgaacccagg gcctccagtg tgctaggcaa gcgccctacc
     2641 tctgagctat atccccagat ccagaacagg ggtttccttg tttgcttttt gttgtttttc
     2701 ttagccattt tgtgccaact acagttgttt tttaaaaatt tgcttcatga aaaattaggc
     2761 agtcctattt taaaatctat gaagttttct ttcagtaatt gcaaaggttc agaagagttg
     2821 ggcagctgta gggtgttaga gttaggactt tgcttacagt tgattgctat actgaagtat
     2881 gtaactactc ccgtatgctg ctcacatgtc tagacattca ttggcccttt tcctttaccc
     2941 tttgaaaaat cacattaaac tttccataca tttagattgg tgtgctgcct gatgaaaaat
     3001 gagaaagcca atatacactt cagctttaac tttagagttt ataaaatgtt catataacac
     3061 accctactta aatcatgtat gaaatacagc atgttagtct tttattagaa atgttttaaa
     3121 gagaaactga gcacacactg aatctatttg agtgaagctt tttagtttgt tatatttatg
     3181 gcattgtcca ggcagatcca aaatcaccat tgaattgcca tcctctttgg gttgacctag
     3241 gcttactaaa catttagatt tcattattaa tgagtagcca gtatgaaaag atgccaatgc
     3301 ttattctagc cacagtatcc aaagtgtagg agttctatga cattctaatt cataaccagg
     3361 agttgctgtt tatagtactg caggacagac aggggcaagg gactccactg ccacggctgg
     3421 tcacagactc gactaacttt tccatttgtt tttttaccaa ttggaatact taaatgtatt
     3481 gtatgtaatg aatactaaac tactgataat catttttttt aaatctgtaa cttgttctgc
     3541 cagataaaat gcgtacagcc gtgatgctag tgttataacc aagtgtaagg accctttgga
     3601 aggccagaca tggtgctgtg ttcctttgat gctggtactt aggagaaatc tgcagaggta
     3661 ggcagatttc ttcttgagtt caaggccagc ctggtctaca tagtaagttc cagactttct
     3721 ggagctgcac agtaagaccc tgtcttaaac aaaaaacaaa caaaccaacc tttggaaaga
     3781 tcactttcat attttgggat gtcatgagct tatctatgtt tcaaaattca gaatagctgt
     3841 cctttggcct aaaccataaa tctacacccc caacgacagt actatgcaga catttcactg
     3901 atttaagttg tttgatacag tcagtgcagg tgaactccat gctaaagttt taagccttgg
     3961 ccaaataact tacacctcac agactgtctg aggcggtgct tctttttttc ctgaaaactt
     4021 gatttttctt gatgaagcca aagttaatga gcatgaattc tcaaaggagt agtctgcttt
     4081 gttttactta atatcaggtt gagtgaagta agttttattc gtgtcagagt ctaagccaca
     4141 cattttgaat acccacatgt ttgatactat ttaagtcatg ctgtgccaag agttactaaa
     4201 ttcttagaac tggccctgtg ccctgcctaa ggccagacag ggcagtgcgg aacccaaatg
     4261 tgctatctga gagtcttaag ctaggaaatc tgggtgtttt aaattagtga gaggtttcag
     4321 ttagtgttga aacctccaga tccgacttga tgttaggcag tgtggatgtg ctcagtggta
     4381 gagcagttac ctagtggccc aggccttggg ttcagtctct aacactgcaa aaggagagca
     4441 gtggctcaca gtgtaaccta cgtttagaga gacatgaaag gaagtacttt caaagtgaat
     4501 gtttgttgta atttagtcct aacaagtgta gagctatgat atgtgacctt aattaagaaa
     4561 aaccagattg gatcagtagt atttttgttg tttttcatat ttaacataaa aattcccttc
     4621 atccctaatt tgtttataat taaagagaca aattgatttt gtattttttc aaagttttat
     4681 acatattaaa agggttttgt tgtagtctat catgaatgaa aaggatattt ttttttttaa
     4741 tttgaggaat acttttgtgt gtgtgtgcct aaaatggtct gtcattttaa gaattagcac
     4801 aaaaaaaaaa ttagctagtt cctaaatgta tggaggttta atagtaccag tacacagttg
     4861 tgggtgaggc actagtgaga agtgtgtggg aaatgcagct gggtaggtgg gactcacttg
     4921 tctctgaatg gtttaaaggt ggtatttcct ggaatttttt taatgatttt ttttttcaag
     4981 gaagacagac attcgaaatg tgcttatcaa atttctacaa cactggacta ataggaataa
     5041 cttttttttt aaaaaaaaaa gactgttctg tataaataaa atatatgaaa ctcaagtgca
     5101 aaagccgtga aaataaaagg cattgtcttc tgtcaatgtg atgcactgtg gccgagcagt
     5161 tccctcagga ctcaactctg cagcccttcc tcctgtgcct caagtgtcgg ctgccactcc
     5221 acaggtcttc cgtctgtcgg ctcctttgaa agccgggctt ccaaagccct gttgaacact
     5281 gagggttctg gtgatgtgtg ttaatgagtt gtattttaaa tatcagagat tattaaataa
     5341 agagaatgat tttctattaa aaaaaaaaaa aaaaaa
//
