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Atxn3 ataxin 3 [ Mus musculus (house mouse) ]

Gene ID: 110616, updated on 11-Apr-2024

Summary

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Official Symbol
Atxn3provided by MGI
Official Full Name
ataxin 3provided by MGI
Primary source
MGI:MGI:1099442
See related
Ensembl:ENSMUSG00000021189 AllianceGenome:MGI:1099442
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; ataxin-3; 2210008M02Rik
Summary
Enables thiol-dependent deubiquitinase and ubiquitin protein ligase binding activity. Involved in cellular response to misfolded protein and proteolysis. Acts upstream of or within several processes, including cellular response to heat; exploration behavior; and ubiquitin-dependent protein catabolic process. Located in mitochondrial matrix; mitochondrial membrane; and nuclear inclusion body. Is expressed in several structures, including alimentary system; brain; hemolymphoid system gland; musculature; and testis. Human ortholog(s) of this gene implicated in Machado-Joseph disease. Orthologous to several human genes including ATXN3 (ataxin 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 13.9), bladder adult (RPKM 6.4) and 24 other tissues See more
Orthologs
human all
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Genomic context

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Location:
12 E; 12 51.32 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (101885160..101928139, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (101918901..101959121, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_33088 Neighboring gene fibulin 5 Neighboring gene STARR-seq mESC enhancer starr_33091 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene predicted gene, 20036 Neighboring gene STARR-positive B cell enhancer ABC_E1452 Neighboring gene STARR-seq mESC enhancer starr_33093 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 Neighboring gene U3B small nuclear RNA pseudogene 3 Neighboring gene predicted gene, 25203

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Pathogenetic Mechanisms Underlying Spinocerebellar Ataxia Type 3 Are Altered in Primary Oligodendrocyte Culture. Schuster KH, et al. Cells, 2022 Aug 22. PMID 36010688, Free PMC Article
  2. A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes. Haas E, et al. Mol Neurobiol, 2022 Jan. PMID 34716557, Free PMC Article
  3. 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. Wiatr K, et al. Front Mol Neurosci, 2021. PMID 34220448, Free PMC Article
  4. Neurodegenerative phosphoprotein signaling landscape in models of SCA3. Sowa AS, et al. Mol Brain, 2021 Mar 19. PMID 33741019, Free PMC Article
  5. Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3. Schmidt J, et al. Hum Mol Genet, 2019 May 1. PMID 30576445

See all (89) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP.
    Title: KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP.
  2. A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes.
    Title: A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes.
  3. Ubiquilin-2 differentially regulates polyglutamine disease proteins.
    Title: Ubiquilin-2 differentially regulates polyglutamine disease proteins.
  4. ATXN3 positively regulates type I IFN antiviral response by deubiquitinating and stabilizing HDAC3
    Title: ATXN3 Positively Regulates Type I IFN Antiviral Response by Deubiquitinating and Stabilizing HDAC3.
  5. Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways
    Title: Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways.
  6. findings identify a novel molecular link between ATX-3 and p53-mediated cell death and provide an explanation for the direct involvement of p53 in SCA3 disease pathogenesis
    Title: The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53.
  7. We show that chronic VPA treatment did not modify the ATXN3 inclusion load and astrogliosis in affected brain regions However, VPA chronic treatment was able to increase GRP78 protein levels at 30 weeks of age, one of its known neuroprotective effects
    Title: Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease.
  8. work suggests that in Machado-Joseph disease, mutant ataxin-3 drives an abnormal reduction of ataxin-2 levels, which overactivates poly(A)-binding protein, increases translation of mutant ataxin-3 and other proteins and aggravates Machado-Joseph disease.
    Title: Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease.
  9. SCA3 knockin mice exhibit robust Atxn3 accumulation both in regions known to be affected in human disease; also display altered splicing of the mutant Atxn3 transcript that results in the formation of a previously described alternative ATXN3 transcript
    Title: A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.
  10. Data support the importance of ATXN3 in neuronal cells and indicate that an expanded polyQ tract leads to a partial loss of the cellular function of ATXN3 that may be relevant to neurodegeneration.
    Title: Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase binding ISO
Inferred from Sequence Orthology
more info
  
enables K48-linked deubiquitinase activity ISO
Inferred from Sequence Orthology
more info
  
enables K63-linked deubiquitinase activity ISO
Inferred from Sequence Orthology
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type deubiquitinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-type deubiquitinase activity ISO
Inferred from Sequence Orthology
more info
  
enables cysteine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
contributes_to histone deacetylase activity ISO
Inferred from Sequence Orthology
more info
  
enables histone deacetylase binding ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription corepressor binding ISO
Inferred from Sequence Orthology
more info
  
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within actin cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to amino acid starvation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cellular response to heat IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to misfolded protein IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within exploration behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within intermediate filament cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within microtubule cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
involved_in monoubiquitinated protein deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of ERAD pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of ubiquitin-dependent protein catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein K48-linked deubiquitination ISO
Inferred from Sequence Orthology
more info
  
involved_in protein K63-linked deubiquitination ISO
Inferred from Sequence Orthology
more info
  
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization to cytosolic proteasome complex ISO
Inferred from Sequence Orthology
more info
  
involved_in protein modification process ISO
Inferred from Sequence Orthology
more info
  
involved_in protein quality control for misfolded or incompletely synthesized proteins IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of cell-substrate adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of cell-substrate adhesion ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
colocalizes_with endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear inclusion body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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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
XP_030102382.1
XP_030102383.1
XP_030102386.1
XP_036013055.1
XP_036013056.1
XP_036013057.1

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_001167914.1 → NP_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, F6T5L3
    Related
    ENSMUSP00000125378.2, ENSMUST00000161011.8
    Conserved Domains (2) summary
    pfam02099
    Location:9 → 163
    Josephin
    pfam16619
    Location:264 → 291
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

  2. NM_029705.3 → NP_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
    Related
    ENSMUSP00000021606.6, ENSMUST00000021606.12
    Conserved Domains (2) summary
    pfam02099
    Location:9 → 163
    Josephin
    pfam16619
    Location:264 → 322
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    101885160..101928139 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030246522.2 → XP_030102382.1  ataxin-3 isoform X1

    Conserved Domains (2) summary
    pfam02099
    Location:9 → 162
    Josephin
    pfam16619
    Location:263 → 321
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

  2. XM_030246523.1 → XP_030102383.1  ataxin-3 isoform X3

    Conserved Domains (2) summary
    pfam02099
    Location:1 → 116
    Josephin
    pfam16619
    Location:217 → 275
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

  3. XM_036157163.1 → XP_036013056.1  ataxin-3 isoform X4

    Conserved Domains (1) summary
    pfam16619
    Location:85 → 143
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

  4. XM_036157164.1 → XP_036013057.1  ataxin-3 isoform X4

    Conserved Domains (1) summary
    pfam16619
    Location:85 → 143
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

  5. XM_036157162.1 → XP_036013055.1  ataxin-3 isoform X2

    UniProtKB/TrEMBL
    F6T5L3
    Conserved Domains (2) summary
    pfam02099
    Location:9 → 163
    Josephin
    pfam16619
    Location:264 → 322
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

  6. XM_030246526.2 → XP_030102386.1  ataxin-3 isoform X5

    UniProtKB/TrEMBL
    F6T5L3, Q5M8S1
    Related
    ENSMUSP00000125082.2, ENSMUST00000160251.8
    Conserved Domains (1) summary
    pfam02099
    Location:9 → 163
    Josephin

RNA

  1. XR_004937404.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CVD2.2 GenPept UniProtKB/Swiss-Prot:Q9CVD2

Gene LinkOut

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