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Atxn3 ataxin 3 [ Mus musculus (house mouse) ]

Gene ID: 110616, updated on 5-Aug-2018

Summary

Official Symbol
Atxn3provided by MGI
Official Full Name
ataxin 3provided by MGI
Primary source
MGI:MGI:1099442
See related
Ensembl:ENSMUSG00000021189 Vega:OTTMUSG00000030696
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 uncharacterized LOC102631912 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
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
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, OTTMUSP00000039989, ENSMUST00000161011.7, OTTMUST00000076081
    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, OTTMUSP00000039935, ENSMUST00000021606.11, OTTMUST00000075997
    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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