LOCUS       NM_029705               5376 bp    mRNA    linear   ROD 04-AUG-2023
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   Schuster KH, Putka AF and McLoughlin HS.
  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   2  (bases 1 to 5376)
  AUTHORS   Abeditashi M, Weber JJ, Pereira Sena P, Velic A, Kalimeri M,
            Incebacak Eltemur RD, 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   3  (bases 1 to 5376)
  AUTHORS   Haas E, Incebacak RD, Hentrich T, Huridou C, Schmidt T, Casadei N,
            Maringer Y, Bahl C, Zimmermann F, Mills JD, Aronica E, Riess O,
            Schulze-Hentrich JM and Hubener-Schmid J.
  TITLE     A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease
            Phenotype Including Neuropathological, Behavioral, and
            Transcriptional Abnormalities Especially in Oligodendrocytes
  JOURNAL   Mol Neurobiol 59 (1), 495-522 (2022)
   PUBMED   34716557
  REMARK    GeneRIF: A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3
            Disease Phenotype Including Neuropathological, Behavioral, and
            Transcriptional Abnormalities Especially in Oligodendrocytes.
REFERENCE   4  (bases 1 to 5376)
  AUTHORS   Khang R, Jo A, Kang H, Kim H, Kwag E, Lee JY, Koo O, Park J, Kim
            HK, Jo DG, Hwang I, Ahn JY, Lee Y, Choi JY, Lee YS and Shin JH.
  TITLE     Loss of zinc-finger protein 212 leads to Purkinje cell death and
            locomotive abnormalities with phospholipase D3 downregulation
  JOURNAL   Sci Rep 11 (1), 22745 (2021)
   PUBMED   34815492
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5376)
  AUTHORS   Wiatr K, Marczak L, Perot JB, Brouillet E, Flament J and Figiel M.
  TITLE     Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult
            Brain, Young Neurons, and Axons Reveals Central Molecular Processes
            and Biomarkers in SCA3/MJD Using Knock-In Mouse Model
  JOURNAL   Front Mol Neurosci 14, 658339 (2021)
   PUBMED   34220448
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5376)
  AUTHORS   Cemal CK, Carroll CJ, Lawrence L, Lowrie MB, Ruddle P, Al-Mahdawi
            S, King RH, Pook MA, 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 HT.
  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 CJ and Zoghbi HY.
  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:426599"
     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    876..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:435469"
     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      5332..5337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
     polyA_site      5360
                     /gene="Atxn3"
                     /gene_synonym="2210008M02Rik; ataxin-3; ATX3; Mjd; MJD1;
                     Sca3"
ORIGIN      

ggaccggggctgaggggtggggccgggggcggagctgctggagggggctgctccgcgccggggccgttggctccagacaaataaacatggagtccatcttccacgagaaacaagaaggctcactttgtgctcagcattgcctgaataacctattgcaaggagagtattttagccctgtggagctatcctcaattgcacaccagctggatgaagaggagaggctgagaatggcagaagggggagtcactagtgaagactaccgcacatttttacagcagccttctggaaatatggatgacagcggctttttctctattcaagttataagcaatgctttgaaagtttggggtttagaactaatcctgttcaacagtccagagtaccagaggctcagaattgatcctataaacgaaagatcctttatatgcaattataaagaacactggtttacagttagaaaattaggcaagcagtggtttaacttgaattctctgttgacgggtccagaattaatatcagatacatacctcgcactattcttggctcaattacagcaagaaggttattctatatttgttgttaagggtgatctgccagattgtgaagctgaccaacttttgcagatgatcaaggtccaacagatgcatcgaccaaaacttattggagaggaacttgcacatctgaaagagcagagtgccctcaaagcagacctggagcgcgtcttagaagcagctgatgggtcgggcatatttgatgaagatgaggatgatttacagagggctctagccataagtcgccaggaaatcgacatggaggatgaagaagctgatctccgcagggccattcagctcagtatgcaaggtagttccagaagtatgtgtgaaaatagtccacagacatcaagtccagatctctcttcagaagagctgcggaggagacgagaagcctactttgaaaagcaacagcagcagcagcaggaggtagaccgacctggacccctttcatatccacgtgaaagaccgaccacaagttcaggaggacgtaggagcgaccaaggaggcgacgctgtgagtgaagaggacatgcttcgggcagctgtgaccatgtctttagaaactgctaaagacaacttgaaagcagaaagaaaaaaatagtacctttaaaagtcattttgctactcacactttgtaacattgtctgtgtgattacagtgtaagggccactttggcagtatgttcaccagaagagataaagacactgtagtggtttgtaagcagaaaggcagaaatgtgtcataggactaaggaacgatcgagatactagccaaagaggcagtcagcaatgaaagaaacttttctaaatgtcccgttttgtttttcaaatgtgcaatatctgactgaaattatggaatttttgttggctcttttggaccaactgattagctcttgccacagaacttgatcctataatgtttcgttttctctctgcattgggggtggcttggctcacttgagcttttacttcatttcagacctaccttttatgaaatgtcttttatatgtcttgttacagaaagatcagtctgtcttctcatacatatgtcgggcacgtggatgcttcctggtggtattttctctaatgtggtgatgtgttgcttttaaagcctttgttagtgggatcacatttcctaattgtgctgcattcctctactctgcagtcagctctgttcttgtaactgagcacgtgagcgtgctctgtctggatgccctgagagtggctgactcctggctggagcccttcctgtaccttccttcctctcttctccagctgagaaaagaggaggcagaggacacaaacagatttccttctacgtaacatgcaccatgaatgcaccacaggagaaactcgcccttcagtcctggtggtgggtttgtcctagtttttcatctgtgacaggagctttgtgttctaatcacgattaagtcctggaaaatagatgcctgcttcactttctaaaaattaaaaatatttttttttctttttctagtagaaaataggctgctaggatgatggtctagaatctgaaagtaatttactaataaaatatatttaaataatactgtgggttgacccttgcaatcatgtttaaatcgcttaagaattacagaagtcacaaagcttaaagggtctgtttgtaaataggaaagtccttagttttgataaacattaagcaggatgcagagctagtcttgctgggtcaatacgtggtatgatttgggtggaaattaactctgtgtctttgtcatggtgtcatagataccctgatacctgctttcccctccctcccctttgaagcccctttgaatggtgacttgtacataggtaaagtccaagaagagattgtagccagcttaggaaggggcagcatgctatagtgctctactggtgtgtgctctgcacacgtttttatcagggaaagttttggatgtaggatttattgctgtctaactgaaaaagatacaaatatttttatttatgcttatgaaatagctttttcttgataggatggatgtttggtttggtttggttgtgcgagggattgaacccagggcctccagtgtgctaggcaagcgccctacctctgagctatatccccagatccagaacaggggtttccttgtttgctttttgttgtttttcttagccattttgtgccaactacagttgttttttaaaaatttgcttcatgaaaaattaggcagtcctattttaaaatctatgaagttttctttcagtaattgcaaaggttcagaagagttgggcagctgtagggtgttagagttaggactttgcttacagttgattgctatactgaagtatgtaactactcccgtatgctgctcacatgtctagacattcattggcccttttcctttaccctttgaaaaatcacattaaactttccatacatttagattggtgtgctgcctgatgaaaaatgagaaagccaatatacacttcagctttaactttagagtttataaaatgttcatataacacaccctacttaaatcatgtatgaaatacagcatgttagtcttttattagaaatgttttaaagagaaactgagcacacactgaatctatttgagtgaagctttttagtttgttatatttatggcattgtccaggcagatccaaaatcaccattgaattgccatcctctttgggttgacctaggcttactaaacatttagatttcattattaatgagtagccagtatgaaaagatgccaatgcttattctagccacagtatccaaagtgtaggagttctatgacattctaattcataaccaggagttgctgtttatagtactgcaggacagacaggggcaagggactccactgccacggctggtcacagactcgactaacttttccatttgtttttttaccaattggaatacttaaatgtattgtatgtaatgaatactaaactactgataatcattttttttaaatctgtaacttgttctgccagataaaatgcgtacagccgtgatgctagtgttataaccaagtgtaaggaccctttggaaggccagacatggtgctgtgttcctttgatgctggtacttaggagaaatctgcagaggtaggcagatttcttcttgagttcaaggccagcctggtctacatagtaagttccagactttctggagctgcacagtaagaccctgtcttaaacaaaaaacaaacaaaccaacctttggaaagatcactttcatattttgggatgtcatgagcttatctatgtttcaaaattcagaatagctgtcctttggcctaaaccataaatctacacccccaacgacagtactatgcagacatttcactgatttaagttgtttgatacagtcagtgcaggtgaactccatgctaaagttttaagccttggccaaataacttacacctcacagactgtctgaggcggtgcttctttttttcctgaaaacttgatttttcttgatgaagccaaagttaatgagcatgaattctcaaaggagtagtctgctttgttttacttaatatcaggttgagtgaagtaagttttattcgtgtcagagtctaagccacacattttgaatacccacatgtttgatactatttaagtcatgctgtgccaagagttactaaattcttagaactggccctgtgccctgcctaaggccagacagggcagtgcggaacccaaatgtgctatctgagagtcttaagctaggaaatctgggtgttttaaattagtgagaggtttcagttagtgttgaaacctccagatccgacttgatgttaggcagtgtggatgtgctcagtggtagagcagttacctagtggcccaggccttgggttcagtctctaacactgcaaaaggagagcagtggctcacagtgtaacctacgtttagagagacatgaaaggaagtactttcaaagtgaatgtttgttgtaatttagtcctaacaagtgtagagctatgatatgtgaccttaattaagaaaaaccagattggatcagtagtatttttgttgtttttcatatttaacataaaaattcccttcatccctaatttgtttataattaaagagacaaattgattttgtattttttcaaagttttatacatattaaaagggttttgttgtagtctatcatgaatgaaaaggatatttttttttttaatttgaggaatacttttgtgtgtgtgtgcctaaaatggtctgtcattttaagaattagcacaaaaaaaaaattagctagttcctaaatgtatggaggtttaatagtaccagtacacagttgtgggtgaggcactagtgagaagtgtgtgggaaatgcagctgggtaggtgggactcacttgtctctgaatggtttaaaggtggtatttcctggaatttttttaatgattttttttttcaaggaagacagacattcgaaatgtgcttatcaaatttctacaacactggactaataggaataactttttttttaaaaaaaaaagactgttctgtataaataaaatatatgaaactcaagtgcaaaagccgtgaaaataaaaggcattgtcttctgtcaatgtgatgcactgtggccgagcagttccctcaggactcaactctgcagcccttcctcctgtgcctcaagtgtcggctgccactccacaggtcttccgtctgtcggctcctttgaaagccgggcttccaaagccctgttgaacactgagggttctggtgatgtgtgttaatgagttgtattttaaatatcagagattattaaataaagagaatgattttctattaaaaaaaaaaaaaaaaaa

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