Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:hereditary_spastic_paraplegia
sensory ataxia |
| gptkbp:chromosomeArm |
gptkb:8p11.21
|
| gptkbp:discoveredIn |
2006
|
| gptkbp:encodes |
RING finger protein 170
|
| gptkbp:Entrez_Gene_ID |
ENSG00000164880
285671 |
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:function |
protein ubiquitination
E3 ubiquitin-protein ligase activity |
| gptkbp:HGNC_ID |
gptkb:HGNC:24697
|
| https://www.w3.org/2000/01/rdf-schema#label |
RNF170 gene
|
| gptkbp:locatedOnChromosome |
8
|
| gptkbp:mutationAssociatedWith |
neurological disorders
|
| gptkbp:OMIM |
614654
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Rnf170
|
| gptkbp:UniProtID |
Q9H6L5
|
| gptkbp:bfsParent |
gptkb:RCH2
|
| gptkbp:bfsLayer |
7
|