gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
gptkbp:alternativeName
|
NEDD4-like E3 ubiquitin-protein ligase
NEDD4-2
|
gptkbp:associatedWith
|
gptkb:Liddle_syndrome
hypertension
|
gptkbp:discoveredBy
|
Yang et al.
|
gptkbp:discoveredIn
|
2000
|
gptkbp:domain
|
gptkb:WW_domain
gptkb:HECT_domain
C2 domain
|
gptkbp:Entrez_Gene_ID
|
23327
ENSG00000139178
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:kidney
colon
|
gptkbp:fullName
|
Neural precursor cell expressed, developmentally down-regulated 4-like
|
gptkbp:function
|
gptkb:E3_ubiquitin-protein_ligase
regulation of epithelial sodium channel (ENaC)
|
gptkbp:GO_term
|
protein binding
ubiquitin-protein transferase activity
cellular protein modification process
|
gptkbp:hasTranscriptVariant
|
multiple
|
gptkbp:HGNC_ID
|
gptkb:NEDD4L
|
https://www.w3.org/2000/01/rdf-schema#label
|
NEDD4L
|
gptkbp:interactsWith
|
gptkb:SMAD2
gptkb:SMAD3
SCNN1A
SCNN1B
SCNN1G
|
gptkbp:locatedOnChromosome
|
18
|
gptkbp:location
|
18q21.31
|
gptkbp:molecularWeight
|
~110 kDa
|
gptkbp:mutationAssociatedWith
|
can cause salt-sensitive hypertension
|
gptkbp:numberOfExons
|
41
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse
|
Nedd4l
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
|
gptkbp:proteinFamily
|
NEDD4 family
|
gptkbp:regulates
|
gptkb:ENaC
TGF-beta signaling
regulated by 14-3-3 proteins
regulated by SGK1
regulated by TGF-beta
|
gptkbp:UniProtID
|
Q96PU5
|
gptkbp:bfsParent
|
gptkb:chromosome_18
|
gptkbp:bfsLayer
|
6
|