|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:E6-AP
gptkb:E6-associated_protein
|
|
gptkbp:associatedWith
|
gptkb:Angelman_syndrome
gptkb:Prader-Willi_syndrome
|
|
gptkbp:chromosomeArm
|
gptkb:15q11-q13
|
|
gptkbp:discoveredBy
|
Huibregtse JM et al.
|
|
gptkbp:encodes
|
gptkb:ubiquitin-protein_ligase_E3A
|
|
gptkbp:Entrez_Gene_ID
|
7337
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:function
|
E3 ubiquitin-protein ligase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
12496
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
UBE3A
|
|
gptkbp:imprint
|
yes
|
|
gptkbp:interactsWith
|
gptkb:ATXN3
gptkb:Arc_protein
gptkb:E6_protein_of_HPV
gptkb:Ephexin5
gptkb:RPN10
gptkb:RPN13
gptkb:Ribosomal_proteins
gptkb:UBE2L3
gptkb:p53
gptkb:HERC2
GABAA receptor subunits
|
|
gptkbp:length
|
875 amino acids
~120 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
|
|
gptkbp:mouseModelPhenotype
|
seizures
motor dysfunction
learning deficits
|
|
gptkbp:mutationAssociatedWith
|
deletion
neurological disorder
point mutation
imprinting defect
uniparental disomy
|
|
gptkbp:numberOfExons
|
16
|
|
gptkbp:OMIM
|
601623
|
|
gptkbp:orthologInMouse
|
gptkb:Ube3a
|
|
gptkbp:parentalExpression
|
maternally expressed in brain
|
|
gptkbp:pathway
|
protein degradation
ubiquitin-mediated proteolysis
|
|
gptkbp:proteinFamily
|
gptkb:E6AP-type_E3_ubiquitin_ligase_domain
gptkb:HECT_domain
|
|
gptkbp:regulates
|
neuronal development
protein turnover
synaptic function
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
gptkb:Q05086
|
|
gptkbp:bfsParent
|
gptkb:chromosome_15
|
|
gptkbp:bfsLayer
|
6
|