Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:E6-AP
gptkb:E6-associated_protein |
| gptkbp:associatedWith |
gptkb:Angelman_syndrome
gptkb:Prader-Willi_syndrome |
| gptkbp:encodes |
gptkb:E6-AP_ubiquitin-protein_ligase
|
| gptkbp:Entrez_Gene_ID |
7337
|
| gptkbp:expressedIn |
brain
|
| gptkbp:fullName |
gptkb:ubiquitin_protein_ligase_E3A
|
| gptkbp:function |
ubiquitin-protein transferase activity
|
| gptkbp:HGNC_ID |
12496
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ube3a
|
| gptkbp:imprintingStatus |
maternally expressed in neurons
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
|
| gptkbp:mutationAssociatedWith |
neurodevelopmental disorders
|
| gptkbp:OMIM |
601623
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Ube3a
|
| gptkbp:UniProtID |
gptkb:Q05086
|
| gptkbp:bfsParent |
gptkb:chromosome_15_(mouse)
gptkb:UBE3A |
| gptkbp:bfsLayer |
7
|