NEDD4L (NEDD4 like E3 ubiquitin protein ligase)

2007-04-01  

Identity

HGNC
LOCATION
18q21.31
LOCUSID
ALIAS
NEDD4-2,NEDD4.2,PVNH7,RSP5,hNEDD4-2
FUSION GENES

Other Information

Locus ID:

NCBI: 23327
MIM: 606384
HGNC: 7728
Ensembl: ENSG00000049759

Variants:

dbSNP: 23327
ClinVar: 23327
TCGA: ENSG00000049759
COSMIC: NEDD4L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049759ENST00000256830Q96PU5
ENSG00000049759ENST00000356462Q96PU5
ENSG00000049759ENST00000357895Q96PU5
ENSG00000049759ENST00000382850Q96PU5
ENSG00000049759ENST00000400345Q96PU5
ENSG00000049759ENST00000431212Q96PU5
ENSG00000049759ENST00000431212A0A024R2A4
ENSG00000049759ENST00000435432Q96PU5
ENSG00000049759ENST00000435432A0A024R281
ENSG00000049759ENST00000456173Q96PU5
ENSG00000049759ENST00000456173A0A024R281
ENSG00000049759ENST00000456986Q96PU5
ENSG00000049759ENST00000456986A0A024R2A4
ENSG00000049759ENST00000586263Q96PU5
ENSG00000049759ENST00000586268K7ENS6
ENSG00000049759ENST00000587190K7EQC5
ENSG00000049759ENST00000587881K7ERN1
ENSG00000049759ENST00000588494K7EN51
ENSG00000049759ENST00000589054K7EKL1
ENSG00000049759ENST00000592846A0A140TA85
ENSG00000049759ENST00000617539A0A087WVI6
ENSG00000049759ENST00000635997A0A1B0GVY1

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Tight junctionKEGGko04530
Ubiquitin mediated proteolysisKEGGhsa04120
Tight junctionKEGGhsa04530
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Budding and maturation of HIV virionREACTOMER-HSA-162588
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Signal TransductionREACTOMER-HSA-162582
Signaling by TGF-beta Receptor ComplexREACTOMER-HSA-170834
TGF-beta receptor signaling activates SMADsREACTOMER-HSA-2173789
Downregulation of TGF-beta receptor signalingREACTOMER-HSA-2173788
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimerREACTOMER-HSA-2173793
Downregulation of SMAD2/3:SMAD4 transcriptional activityREACTOMER-HSA-2173795
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA151249535diureticsChemicalClinicalAnnotationassociatedPD18591455, 21052022
PA162403013SGK1GenePathwayassociated23788015
PA305SCNN1AGenePathwayassociated23788015
PA306SCNN1BGenePathwayassociated23788015
PA307SCNN1GGenePathwayassociated23788015
PA321SLC12A3GenePathwayassociated23788015
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD18591455, 19635985, 21052022
PA447278DepressionDiseaseClinicalAnnotationassociatedPD23809733
PA449015citalopramChemicalClinicalAnnotationassociatedPD23809733
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD18591455, 19635985, 21052022
PA62ATP1A1GenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
199172532009Ubiquitin ligase Nedd4L targets activated Smad2/3 to limit TGF-beta signaling.141
200644732009Insights into ubiquitin transfer cascades from a structure of a UbcH5B approximately ubiquitin-HECT(NEDD4L) complex.134
175023802007Nedd4-2 catalyzes ubiquitination and degradation of cell surface ENaC.94
183219682008NEDD4L overexpression rescues the release and infectivity of human immunodeficiency virus type 1 constructs lacking PTAP and YPXL late domains.83
153283452004cAMP and serum and glucocorticoid-inducible kinase (SGK) regulate the epithelial Na(+) channel through convergent phosphorylation of Nedd4-2.72
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
183219692008Efficient and specific rescue of human immunodeficiency virus type 1 budding defects by a Nedd4-like ubiquitin ligase.61
199530872009Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays.54
218525802011Nedd4-2 modulates renal Na+-Cl- cotransporter via the aldosterone-SGK1-Nedd4-2 pathway.53
184982462008Regulation of Nedd4-2 self-ubiquitination and stability by a PY motif located within its HECT-domain.43

Citation

Dessen P

NEDD4L (NEDD4 like E3 ubiquitin protein ligase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46861/nedd4l