ataxin 3

Summary
Gene Symbol
  • ATXN3
Organism
Homo sapiens (human)
NCBI Gene
4287
PubChem
4287
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Isopeptide bond
  • Lysosome
  • Membrane
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Spinocerebellar ataxia
  • Thiol protease
  • Transcription regulation
  • Triplet repeat expansion
  • Ubl conjugation
  • Ubl conjugation pathway
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A0A0MS38
P54252
  • Machado-Joseph disease protein 1
  • Spinocerebellar ataxia type 3 protein
C9JQV6
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
ATAXIN-3
Functional Category
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
hydrolase activity
proteolysis
Displaying all 2 entries
InterPro
Josephin domain
Machado-Joseph disease protein
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0060892 late onset Parkinson's disease
DOID:1440 Machado-Joseph disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024