|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alsoKnownAs
|
gptkb:E6-AP
gptkb:E6-Associated_Protein
|
|
gptkbp:catalyzes
|
ubiquitin transfer
|
|
gptkbp:discoveredBy
|
Huibregtse JM et al.
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:domain
|
gptkb:HECT_domain
|
|
gptkbp:encodedBy
|
gptkb:UBE3A_gene
|
|
gptkbp:Entrez_Gene_ID
|
7337
|
|
gptkbp:enzymeClassification
|
EC 6.3.2.19
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
various tissues
|
|
gptkbp:function
|
gptkb:E3_ubiquitin-protein_ligase
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasIsoform
|
gptkb:E6AP_isoform_1
gptkb:E6AP_isoform_2
gptkb:E6AP_isoform_3
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
E6AP
|
|
gptkbp:interactsWith
|
gptkb:UBE2L3
gptkb:p53
gptkb:E6AP-interacting_protein_(E6-APIP)
gptkb:HPV_E6_protein
|
|
gptkbp:involvedIn
|
gptkb:ubiquitin-proteasome_pathway
|
|
gptkbp:locatedOnChromosome
|
gptkb:15q11-q13
|
|
gptkbp:location
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:molecularWeight
|
~100 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autism_spectrum_disorder
gptkb:Angelman_syndrome
nonsense
deletion
missense
duplication
|
|
gptkbp:OMIM
|
601623
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:pathway
|
protein ubiquitination
proteasomal protein catabolic process
|
|
gptkbp:PDB
|
1C4Z
|
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
|
|
gptkbp:regulates
|
protein degradation
p53 degradation (in presence of HPV E6)
|
|
gptkbp:significance
|
loss of function causes Angelman syndrome
overexpression linked to cancer
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
gptkb:Q05086
|
|
gptkbp:bfsParent
|
gptkb:HERC2
|
|
gptkbp:bfsLayer
|
7
|