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    Atxn3 ataxin 3 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 60331, updated on 4-Jan-2025

    Summary

    Official Symbol
    Atxn3provided by RGD
    Official Full Name
    ataxin 3provided by RGD
    Primary source
    RGD:621567
    See related
    EnsemblRapid:ENSRNOG00000005470 AllianceGenome:RGD:621567
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    MJD1; Rsca3
    Summary
    Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; histone deacetylase binding activity; and transcription corepressor binding activity. Contributes to histone deacetylase activity. Involved in protein modification process. Predicted to be located in several cellular components, including endoplasmic reticulum membrane; mitochondrion; and nucleus. Predicted to be active in lysosomal membrane and nucleus. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Orthologous to human ATXN3 (ataxin 3). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in Thymus (RPKM 100.1), Lung (RPKM 99.8) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Atxn3 in Genome Data Viewer
    Location:
    6q32
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (126837107..126872919, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (121072228..121107902, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (125817420..125853461, complement)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene fibulin 5 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene uncharacterized LOC120103604 Neighboring gene ribosomal protein L37A, pseudogene 6 Neighboring gene uncharacterized LOC134479251 Neighboring gene LLP homolog, long-term synaptic facilitation factor, pseudogene 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATPase binding  
    enables ATPase binding  
    enables K48-linked deubiquitinase activity  
    enables K48-linked deubiquitinase activity  
    enables K63-linked deubiquitinase activity  
    enables K63-linked deubiquitinase activity  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding PubMed 
    enables cysteine-type deubiquitinase activity  
    enables cysteine-type deubiquitinase activity  
    enables cysteine-type deubiquitinase activity  
    enables cysteine-type deubiquitinase activity  
    contributes_to histone deacetylase activity PubMed 
    enables histone deacetylase binding PubMed 
    enables identical protein binding  
    enables identical protein binding  
    enables transcription corepressor binding PubMed 
    enables ubiquitin protein ligase binding  
    enables ubiquitin protein ligase binding  
    enables ubiquitin protein ligase binding  
    Items 1 - 25 of 44
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin cytoskeleton organization  
    involved_in actin cytoskeleton organization  
    involved_in cellular response to amino acid starvation  
    involved_in cellular response to amino acid starvation  
    involved_in cellular response to heat  
    acts_upstream_of_or_within cellular response to heat  
    involved_in cellular response to misfolded protein  
    involved_in cellular response to misfolded protein  
    involved_in cellular response to misfolded protein  
    involved_in exploration behavior  
    acts_upstream_of_or_within exploration behavior  
    acts_upstream_of_or_within intermediate filament cytoskeleton organization  
    involved_in intermediate filament cytoskeleton organization  
    acts_upstream_of_or_within microtubule cytoskeleton organization  
    involved_in microtubule cytoskeleton organization  
    involved_in monoubiquitinated protein deubiquitination  
    involved_in monoubiquitinated protein deubiquitination  
    involved_in monoubiquitinated protein deubiquitination  
    involved_in negative regulation of TORC1 signaling  
    involved_in negative regulation of TORC1 signaling  
    involved_in negative regulation of TORC1 signaling  
    involved_in positive regulation of ERAD pathway  
    involved_in positive regulation of ERAD pathway  
    involved_in positive regulation of ubiquitin-dependent protein catabolic process  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process  
    involved_in protein K48-linked deubiquitination  
    involved_in protein K48-linked deubiquitination  
    involved_in protein K63-linked deubiquitination  
    involved_in protein K63-linked deubiquitination  
    involved_in protein deubiquitination  
    involved_in protein localization to cytosolic proteasome complex  
    involved_in protein modification process PubMed 
    involved_in protein quality control for misfolded or incompletely synthesized proteins  
    involved_in protein quality control for misfolded or incompletely synthesized proteins  
    involved_in protein quality control for misfolded or incompletely synthesized proteins  
    involved_in protein quality control for misfolded or incompletely synthesized proteins  
    involved_in proteolysis  
    involved_in regulation of cell-substrate adhesion  
    acts_upstream_of_or_within regulation of cell-substrate adhesion  
    involved_in regulation of cell-substrate adhesion  
    acts_upstream_of_or_within ubiquitin-dependent protein catabolic process  
    Items 1 - 25 of 44
    Component Evidence Code Pubs
    located_in cytoplasm  
    located_in cytosol  
    located_in cytosol  
    located_in endoplasmic reticulum membrane  
    is_active_in lysosomal membrane  
    is_active_in lysosomal membrane  
    located_in mitochondrial matrix  
    located_in mitochondrial matrix  
    located_in mitochondrial membrane  
    located_in mitochondrial membrane  
    located_in nuclear inclusion body  
    located_in nuclear inclusion body  
    located_in nuclear matrix  
    located_in nucleolus  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus  
    located_in nucleus  
    located_in plasma membrane  

    General protein information

    Preferred Names
    ataxin-3
    Names
    machado-Joseph disease protein 1 homolog
    NP_067734.1
    XP_006240547.1
    XP_006240548.1
    XP_006240549.1
    XP_006240550.1
    XP_006240552.1
    XP_006240555.1
    XP_017449826.1
    XP_038968739.1
    XP_063118464.1
    XP_063118465.1
    XP_063118466.1
    XP_063118467.1
    XP_063118468.1
    XP_063118469.1
    XP_063118470.1
    XP_063118471.1
    XP_063118472.1
    XP_063118473.1
    XP_063118474.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_021702.2NP_067734.1  ataxin-3

      See identical proteins and their annotated locations for NP_067734.1

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000006
      UniProtKB/Swiss-Prot
      O35815
      UniProtKB/TrEMBL
      A0A8I6A6D3, A6JEJ5
      Related
      ENSRNOP00000007505.1, ENSRNOT00000007505.4
      Conserved Domains (2) summary
      pfam02099
      Location:9163
      Josephin; Josephin
      pfam16619
      Location:264321
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      126837107..126872919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063262400.1XP_063118470.1  ataxin-3 isoform X12

      UniProtKB/TrEMBL
      A0A8I6A6D3
    2. XM_063262395.1XP_063118465.1  ataxin-3 isoform X7

      UniProtKB/TrEMBL
      A0A8I6A6D3
    3. XM_006240488.5XP_006240550.1  ataxin-3 isoform X5

      UniProtKB/TrEMBL
      A0A8I6A6D3
      Conserved Domains (2) summary
      pfam02099
      Location:9162
      Josephin; Josephin
      pfam16619
      Location:263320
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    4. XM_063262399.1XP_063118469.1  ataxin-3 isoform X11

      UniProtKB/TrEMBL
      A0A8I6A6D3
    5. XM_006240493.5XP_006240555.1  ataxin-3 isoform X6

      UniProtKB/TrEMBL
      A0A8I6A6D3
      Conserved Domains (2) summary
      pfam02099
      Location:9163
      Josephin; Josephin
      pfam16619
      Location:264321
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    6. XM_063262396.1XP_063118466.1  ataxin-3 isoform X9

      UniProtKB/TrEMBL
      A0A8I6A6D3
    7. XM_063262394.1XP_063118464.1  ataxin-3 isoform X4

      UniProtKB/TrEMBL
      A0A8I6A6D3
    8. XM_006240486.5XP_006240548.1  ataxin-3 isoform X3

      UniProtKB/TrEMBL
      A0A8I6A6D3
      Conserved Domains (2) summary
      pfam02099
      Location:9189
      Josephin; Josephin
      pfam16619
      Location:290347
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    9. XM_006240487.5XP_006240549.1  ataxin-3 isoform X2

      UniProtKB/TrEMBL
      A0A8I6A6D3
      Conserved Domains (2) summary
      pfam02099
      Location:9190
      Josephin; Josephin
      pfam16619
      Location:291348
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    10. XM_006240485.5XP_006240547.1  ataxin-3 isoform X1

      UniProtKB/TrEMBL
      A0A8I6A6D3, A0A8I6GJ61
      Related
      ENSRNOP00000091691.1, ENSRNOT00000099444.2
      Conserved Domains (2) summary
      pfam02099
      Location:9190
      Josephin; Josephin
      pfam16619
      Location:291348
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    11. XM_017594337.3XP_017449826.1  ataxin-3 isoform X8

      UniProtKB/TrEMBL
      A0A8I6A6D3
    12. XM_063262397.1XP_063118467.1  ataxin-3 isoform X10

      UniProtKB/TrEMBL
      A0A8I6A6D3
    13. XM_006240490.3XP_006240552.1  ataxin-3 isoform X11

      UniProtKB/TrEMBL
      A0A8I6A6D3
      Conserved Domains (2) summary
      pfam02099
      Location:1143
      Josephin
      pfam16619
      Location:244302
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    14. XM_063262398.1XP_063118468.1  ataxin-3 isoform X11

      UniProtKB/TrEMBL
      A0A8I6A6D3
    15. XM_039112811.2XP_038968739.1  ataxin-3 isoform X11

      UniProtKB/TrEMBL
      A0A8I6A6D3
      Conserved Domains (2) summary
      pfam02099
      Location:1143
      Josephin
      pfam16619
      Location:244302
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    16. XM_063262401.1XP_063118471.1  ataxin-3 isoform X13

      Related
      ENSRNOP00000108385.1, ENSRNOT00000151556.1
    17. XM_063262404.1XP_063118474.1  ataxin-3 isoform X16

    18. XM_063262403.1XP_063118473.1  ataxin-3 isoform X15

    19. XM_063262402.1XP_063118472.1  ataxin-3 isoform X14

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