2024-05-03 07:01:07, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
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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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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