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    Atxn3 ataxin 3 [ Mus musculus (house mouse) ]

    Gene ID: 110616, updated on 9-Mar-2019

    Summary

    Official Symbol
    Atxn3provided by MGI
    Official Full Name
    ataxin 3provided by MGI
    Primary source
    MGI:MGI:1099442
    See related
    Ensembl:ENSMUSG00000021189
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mjd; ATX3; MJD1; Sca3; AI463012; AI647473; ataxin-3; 2210008M02Rik
    Expression
    Ubiquitous expression in testis adult (RPKM 13.9), bladder adult (RPKM 6.4) and 24 other tissues See more
    Orthologs

    Genomic context

    See Atxn3 in Genome Data Viewer
    Location:
    12; 12 E
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 12 NC_000078.6 (101918901..101958243, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (103157111..103196453, complement)

    Chromosome 12 - NC_000078.6Genomic Context describing neighboring genes Neighboring gene fibulin 5 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene predicted gene, 20036 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1 Neighboring gene cleavage and polyadenylation specific factor 2 Neighboring gene solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Lys48-specific deubiquitinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Lys63-specific deubiquitinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    RNA polymerase II regulatory region DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to histone deacetylase activity ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thiol-dependent ubiquitinyl hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to heat IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to misfolded protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intermediate filament cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    monoubiquitinated protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERAD pathway ISO
    Inferred from Sequence Orthology
    more info
     
    proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein K48-linked deubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    protein K63-linked deubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein deubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    protein localization to cytosolic proteasome complex involved in ERAD pathway ISO
    Inferred from Sequence Orthology
    more info
     
    protein quality control for misfolded or incompletely synthesized proteins IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell-substrate adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear inclusion body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ataxin-3
    Names
    Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) homolog
    machado-Joseph disease protein 1 homolog
    NP_001161386.1
    NP_083981.2

    NCBI Reference Sequences (RefSeq)

    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_001167914.1NP_001161386.1  ataxin-3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs at the 3' end compared to variant 1, resulting in an isoform (2) with a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      BC049743, BC087880
      Consensus CDS
      CCDS49144.1
      UniProtKB/TrEMBL
      E9Q717, Q5M8S1, Q810M8
      Related
      ENSMUSP00000125378.1, ENSMUST00000161011.7
      Conserved Domains (2) summary
      pfam02099
      Location:9163
      Josephin; Josephin
      pfam16619
      Location:264291
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    2. NM_029705.3NP_083981.2  ataxin-3 isoform 1

      See identical proteins and their annotated locations for NP_083981.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK030842, BC049743, BQ174976, BX526801
      Consensus CDS
      CCDS26115.1
      UniProtKB/Swiss-Prot
      Q9CVD2
      UniProtKB/TrEMBL
      Q546X9, Q810M8
      Related
      ENSMUSP00000021606.5, ENSMUST00000021606.11
      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: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000078.6 Reference GRCm38.p4 C57BL/6J

      Range
      101918901..101958243 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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