Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:neurofibromatosis_type_1
overgrowth syndrome |
| gptkbp:encodes |
RING finger protein 135
|
| gptkbp:Entrez_Gene_ID |
26054
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
Ring Finger Protein 135
|
| gptkbp:function |
E3 ubiquitin ligase activity
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:HGNC:24682
|
| https://www.w3.org/2000/01/rdf-schema#label |
RNF135
|
| gptkbp:locatedOnChromosome |
gptkb:17q11.2
gptkb:chromosome_17 |
| gptkbp:mutationAssociatedWith |
intellectual disability
developmental delay |
| gptkbp:OMIM |
611358
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Rnf135
|
| gptkbp:proteinFamily |
RING finger domain
|
| gptkbp:UniProtID |
Q8NHY0
|
| gptkbp:bfsParent |
gptkb:17q11.2
|
| gptkbp:bfsLayer |
7
|