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="

MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERLRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQMIKVQQMHRPKLIGEELAHLKEQSALKADLERVLEAADGSGIFDEDEDDLQRALAISRQEIDMEDEEADLRRAIQLSMQGSSRSMCENSPQTSSPDLSSEELRRRREAYFEKQQQQQQEVDRPGPLSYPRERPTTSSGGRRSDQGGDAVSEEDMLRAAVTMSLETAKDNLKAERKK"

     misc_feature    111..575
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="Region: Josephin; pfam02099"
                     /db_xref="CDD:460444"
     misc_feature    741..743
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15345747,
                     ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q9CVD2.2); phosphorylation site"
     misc_feature    855..1151
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9CVD2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    873..1052
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="Unstructured region C-term to UIM in Ataxin3;
                     Region: SUIM_assoc; pfam16619"
                     /db_xref="CDD:465203"
     misc_feature    888..890
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17242355,
                     ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q9CVD2.2); phosphorylation site"
     misc_feature    900..902
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q9CVD2.2); phosphorylation site"
     misc_feature    903..905
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17242355,
                     ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q9CVD2.2); phosphorylation site"
     misc_feature    1047..1049
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q9CVD2.2); phosphorylation site"
     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      

ggaccggggctgaggggtggggccgggggcggagctgctggagggggctgctccgcgccggggccgttggctccagacaaataaacatggagtccatcttccacgagaaacaagaaggctcactttgtgctcagcattgcctgaataacctattgcaaggagagtattttagccctgtggagctatcctcaattgcacaccagctggatgaagaggagaggctgagaatggcagaagggggagtcactagtgaagactaccgcacatttttacagcagccttctggaaatatggatgacagcggctttttctctattcaagttataagcaatgctttgaaagtttggggtttagaactaatcctgttcaacagtccagagtaccagaggctcagaattgatcctataaacgaaagatcctttatatgcaattataaagaacactggtttacagttagaaaattaggcaagcagtggtttaacttgaattctctgttgacgggtccagaattaatatcagatacatacctcgcactattcttggctcaattacagcaagaaggttattctatatttgttgttaagggtgatctgccagattgtgaagctgaccaacttttgcagatgatcaaggtccaacagatgcatcgaccaaaacttattggagaggaacttgcacatctgaaagagcagagtgccctcaaagcagacctggagcgcgtcttagaagcagctgatgggtcgggcatatttgatgaagatgaggatgatttacagagggctctagccataagtcgccaggaaatcgacatggaggatgaagaagctgatctccgcagggccattcagctcagtatgcaaggtagttccagaagtatgtgtgaaaatagtccacagacatcaagtccagatctctcttcagaagagctgcggaggagacgagaagcctactttgaaaagcaacagcagcagcagcaggaggtagaccgacctggacccctttcatatccacgtgaaagaccgaccacaagttcaggaggacgtaggagcgaccaaggaggcgacgctgtgagtgaagaggacatgcttcgggcagctgtgaccatgtctttagaaactgctaaagacaacttgaaagcagaaagaaaaaaatagtacctttaaaagtcattttgctactcacactttgtaacattgtctgtgtgattacagtgtaagggccactttggcagtatgttcaccagaagagataaagacactgtagtggtttgtaagcagaaaggcagaaatgtgtcataggactaaggaacgatcgagatactagccaaagaggcagtcagcaatgaaagaaacttttctaaatgtcccgttttgtttttcaaatgtgcaatatctgactgaaattatggaatttttgttggctcttttggaccaactgattagctcttgccacagaacttgatcctataatgtttcgttttctctctgcattgggggtggcttggctcacttgagcttttacttcatttcagacctaccttttatgaaatgtcttttatatgtcttgttacagaaagatcagtctgtcttctcatacatatgtcgggcacgtggatgcttcctggtggtattttctctaatgtggtgatgtgttgcttttaaagcctttgttagtgggatcacatttcctaattgtgctgcattcctctactctgcagtcagctctgttcttgtaactgagcacgtgagcgtgctctgtctggatgccctgagagtggctgactcctggctggagcccttcctgtaccttccttcctctcttctccagctgagaaaagaggaggcagaggacacaaacagatttccttctacgtaacatgcaccatgaatgcaccacaggagaaactcgcccttcagtcctggtggtgggtttgtcctagtttttcatctgtgacaggagctttgtgttctaatcacgattaagtcctggaaaatagatgcctgcttcactttctaaaaattaaaaatatttttttttctttttctagtagaaaataggctgctaggatgatggtctagaatctgaaagtaatttactaataaaatatatttaaataatactgtgggttgacccttgcaatcatgtttaaatcgcttaagaattacagaagtcacaaagcttaaagggtctgtttgtaaataggaaagtccttagttttgataaacattaagcaggatgcagagctagtcttgctgggtcaatacgtggtatgatttgggtggaaattaactctgtgtctttgtcatggtgtcatagataccctgatacctgctttcccctccctcccctttgaagcccctttgaatggtgacttgtacataggtaaagtccaagaagagattgtagccagcttaggaaggggcagcatgctatagtgctctactggtgtgtgctctgcacacgtttttatcagggaaagttttggatgtaggatttattgctgtctaactgaaaaagatacaaatatttttatttatgcttatgaaatagctttttcttgataggatggatgtttggtttggtttggttgtgcgagggattgaacccagggcctccagtgtgctaggcaagcgccctacctctgagctatatccccagatccagaacaggggtttccttgtttgctttttgttgtttttcttagccattttgtgccaactacagttgttttttaaaaatttgcttcatgaaaaattaggcagtcctattttaaaatctatgaagttttctttcagtaattgcaaaggttcagaagagttgggcagctgtagggtgttagagttaggactttgcttacagttgattgctatactgaagtatgtaactactcccgtatgctgctcacatgtctagacattcattggcccttttcctttaccctttgaaaaatcacattaaactttccatacatttagattggtgtgctgcctgatgaaaaatgagaaagccaatatacacttcagctttaactttagagtttataaaatgttcatataacacaccctacttaaatcatgtatgaaatacagcatgttagtcttttattagaaatgttttaaagagaaactgagcacacactgaatctatttgagtgaagctttttagtttgttatatttatggcattgtccaggcagatccaaaatcaccattgaattgccatcctctttgggttgacctaggcttactaaacatttagatttcattattaatgagtagccagtatgaaaagatgccaatgcttattctagccacagtatccaaagtgtaggagttctatgacattctaattcataaccaggagttgctgtttatagtactgcaggacagacaggggcaagggactccactgccacggctggtcacagactcgactaacttttccatttgtttttttaccaattggaatacttaaatgtattgtatgtaatgaatactaaactactgataatcattttttttaaatctgtaacttgttctgccagataaaatgcgtacagccgtgatgctagtgttataaccaagtgtaaggaccctttggaaggccagacatggtgctgtgttcctttgatgctggtacttaggagaaatctgcagaggtaggcagatttcttcttgagttcaaggccagcctggtctacatagtaagttccagactttctggagctgcacagtaagaccctgtcttaaacaaaaaacaaacaaaccaacctttggaaagatcactttcatattttgggatgtcatgagcttatctatgtttcaaaattcagaatagctgtcctttggcctaaaccataaatctacacccccaacgacagtactatgcagacatttcactgatttaagttgtttgatacagtcagtgcaggtgaactccatgctaaagttttaagccttggccaaataacttacacctcacagactgtctgaggcggtgcttctttttttcctgaaaacttgatttttcttgatgaagccaaagttaatgagcatgaattctcaaaggagtagtctgctttgttttacttaatatcaggttgagtgaagtaagttttattcgtgtcagagtctaagccacacattttgaatacccacatgtttgatactatttaagtcatgctgtgccaagagttactaaattcttagaactggccctgtgccctgcctaaggccagacagggcagtgcggaacccaaatgtgctatctgagagtcttaagctaggaaatctgggtgttttaaattagtgagaggtttcagttagtgttgaaacctccagatccgacttgatgttaggcagtgtggatgtgctcagtggtagagcagttacctagtggcccaggccttgggttcagtctctaacactgcaaaaggagagcagtggctcacagtgtaacctacgtttagagagacatgaaaggaagtactttcaaagtgaatgtttgttgtaatttagtcctaacaagtgtagagctatgatatgtgaccttaattaagaaaaaccagattggatcagtagtatttttgttgtttttcatatttaacataaaaattcccttcatccctaatttgtttataattaaagagacaaattgattttgtattttttcaaagttttatacatattaaaagggttttgttgtagtctatcatgaatgaaaaggatatttttttttttaatttgaggaatacttttgtgtgtgtgtgcctaaaatggtctgtcattttaagaattagcacaaaaaaaaaattagctagttcctaaatgtatggaggtttaatagtaccagtacacagttgtgggtgaggcactagtgagaagtgtgtgggaaatgcagctgggtaggtgggactcacttgtctctgaatggtttaaaggtggtatttcctggaatttttttaatgattttttttttcaaggaagacagacattcgaaatgtgcttatcaaatttctacaacactggactaataggaataactttttttttaaaaaaaaaagactgttctgtataaataaaatatatgaaactcaagtgcaaaagccgtgaaaataaaaggcattgtcttctgtcaatgtgatgcactgtggccgagcagttccctcaggactcaactctgcagcccttcctcctgtgcctcaagtgtcggctgccactccacaggtcttccgtctgtcggctcctttgaaagccgggcttccaaagccctgttgaacactgagggttctggtgatgtgtgttaatgagttgtattttaaatatcagagattattaaataaagagaatgattttctattaaaaaaaaaaaaaaaaaa

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