Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:ataxin-3
|
| gptkbp:associatedWith |
gptkb:Machado-Joseph_disease
neurodegeneration |
| gptkbp:contains |
polyglutamine tract
|
| gptkbp:discoveredBy |
gptkb:Kawaguchi_et_al.
|
| gptkbp:encodes |
gptkb:Ataxin-3_protein
|
| gptkbp:Entrez_Gene_ID |
4287
|
| gptkbp:expressedIn |
gptkb:human
gptkb:testis brain |
| gptkbp:firstDescribed |
1994
|
| gptkbp:function |
deubiquitinating enzyme
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:HGNC:7109
|
| https://www.w3.org/2000/01/rdf-schema#label |
ATXN3
|
| gptkbp:length |
361 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_14
gptkb:14q32.12 |
| gptkbp:mutationAssociatedWith |
gptkb:spinocerebellar_ataxia_type_3
CAG repeat expansion |
| gptkbp:OMIM |
607047
|
| gptkbp:orthologInMouse |
gptkb:Atxn3
|
| gptkbp:UniProtID |
gptkb:P54252
|
| gptkbp:bfsParent |
gptkb:VCP
gptkb:UBE3A |
| gptkbp:bfsLayer |
7
|