Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:MIB1
gptkb:Mindbomb_E3_ubiquitin_protein_ligase_1 |
| gptkbp:associatedWith |
intellectual disability
cardiomyopathy |
| gptkbp:encodes |
gptkb:E3_ubiquitin-protein_ligase_MIB1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000141424
57534 |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
E3 ubiquitin ligase activity
involved in Notch signaling pathway |
| gptkbp:HGNC_ID |
gptkb:MIB1
|
| https://www.w3.org/2000/01/rdf-schema#label |
MIB1 (human gene)
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_18q11.2
|
| gptkbp:OMIM |
608677
|
| gptkbp:UniProtID |
Q86YT6
|
| gptkbp:bfsParent |
gptkb:Mib_(gene)
|
| gptkbp:bfsLayer |
6
|