2024-11-01 08:24:46, GGRNA.v2 : RefSeq release 226 (Sep, 2024)
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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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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