Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:ATXN3
gptkb:SCA3 |
| gptkbp:associatedWith |
gptkb:spinocerebellar_ataxia_type_3
|
| gptkbp:encodes |
ataxin-3 protein
|
| gptkbp:Entrez_Gene_ID |
4287
|
| gptkbp:expressedIn |
gptkb:testis
brain |
| gptkbp:function |
deubiquitinating enzyme
|
| gptkbp:HGNC_ID |
HGNC:10556
|
| https://www.w3.org/2000/01/rdf-schema#label |
Atxn3
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_14
|
| gptkbp:location |
gptkb:14q32.12
|
| gptkbp:mutationAssociatedWith |
gptkb:Machado-Joseph_disease
|
| gptkbp:OMIM |
607047
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Atxn3
|
| gptkbp:proteinFamily |
Josephin domain proteins
|
| gptkbp:UniProtID |
gptkb:P54252
|
| gptkbp:bfsParent |
gptkb:ATXN3
|
| gptkbp:bfsLayer |
8
|