|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:E6-AP
gptkb:E6-associated_protein
|
|
gptkbp:associatedWith
|
gptkb:Angelman_syndrome
gptkb:Prader-Willi_syndrome
|
|
gptkbp:discoveredBy
|
Huibregtse JM et al.
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
gptkb:ubiquitin-protein_ligase_E3A
|
|
gptkbp:Entrez_Gene_ID
|
7337
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:kidney
gptkb:testis
brain
heart
liver
|
|
gptkbp:function
|
ubiquitin-protein transferase activity
|
|
gptkbp:HGNC_ID
|
12496
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
UBE3A gene
|
|
gptkbp:imprintingStatus
|
maternally expressed in neurons
|
|
gptkbp:length
|
875 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
gptkb:15q11-q13
|
|
gptkbp:mutationAssociatedWith
|
deletion
neurodevelopmental disorders
point mutation
imprinting defect
uniparental disomy
loss of function causes Angelman syndrome
overexpression linked to autism
|
|
gptkbp:OMIM
|
601623
|
|
gptkbp:orthologInDrosophila
|
gptkb:dUBE3A
|
|
gptkbp:orthologInMouse
|
gptkb:Ube3a
|
|
gptkbp:orthologInZebrafish
|
ube3a
|
|
gptkbp:postTranslationalModification
|
ubiquitination
|
|
gptkbp:proteinFamily
|
gptkb:HECT_domain
E6 binding domain
HECT domain E3 ligase
ubiquitin-binding domain
|
|
gptkbp:regulates
|
neuronal development
protein degradation
learning and memory
circadian rhythm
synaptic function
|
|
gptkbp:relatedTo
|
gptkb:autism_spectrum_disorder
epilepsy
intellectual disability
|
|
gptkbp:UniProtID
|
gptkb:Q05086
|
|
gptkbp:bfsParent
|
gptkb:Angelman_syndrome
|
|
gptkbp:bfsLayer
|
7
|