|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
E3 ubiquitin-protein ligase HUWE1
|
|
gptkbp:alternativeName
|
Mule
ARF-BP1
HectH9
LASU1
|
|
gptkbp:associatedWith
|
intellectual disability
X-linked syndromic mental retardation
|
|
gptkbp:discoveredBy
|
Kuroda et al.
|
|
gptkbp:encodes
|
E3 ubiquitin-protein ligase HUWE1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000170345
10075
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
|
|
gptkbp:firstDescribed
|
2003
|
|
gptkbp:foundIn
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:function
|
protein binding
ubiquitin-protein transferase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:16850
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HUWE1
|
|
gptkbp:length
|
4374
|
|
gptkbp:locatedOnChromosome
|
X
Xq13.1
|
|
gptkbp:molecularWeight
|
482 kDa
|
|
gptkbp:mutationAssociatedWith
|
neurological disorder
|
|
gptkbp:OMIM
|
300697
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Huwe1
|
|
gptkbp:orthologInZebrafish
|
huwe1
|
|
gptkbp:postTranslationalModification
|
ubiquitination
|
|
gptkbp:proteinFamily
|
HECT domain E3 ligase
|
|
gptkbp:regulates
|
gptkb:MCL1
gptkb:histone_H1
gptkb:p53
gptkb:MYC
apoptosis
cell proliferation
DNA repair
|
|
gptkbp:UniProtID
|
Q7Z6Z7
|
|
gptkbp:bfsParent
|
gptkb:HECT_domain
|
|
gptkbp:bfsLayer
|
7
|