NEDD4L (NEDD4 like E3 ubiquitin protein ligase)

2007-04-01  

Identity

HGNC
NEDD4L
LOCATION
18q21.31
LOCUSID
23327
ALIAS
NEDD4-2,NEDD4.2,PVNH7,RSP5,hNEDD4-2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
379628942024Physiological Functions of the Ubiquitin Ligases Nedd4-1 and Nedd4-2.1
381555302024Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.0
383026122024METTL3 regulates TFRC ubiquitination and ferroptosis through stabilizing NEDD4L mRNA to impact stroke.0
383095032024NEDD4L intramolecular interactions regulate its auto and substrate Na(V)1.5 ubiquitination.0
385260362024NEDD4L is a promoter for angiogenesis and cell proliferation in human umbilical vein endothelial cells.1
388313352024NEDD4L mediates ITGB4 ubiquitination and degradation to suppress esophageal carcinoma progression.0
379628942024Physiological Functions of the Ubiquitin Ligases Nedd4-1 and Nedd4-2.1
381555302024Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.0
383026122024METTL3 regulates TFRC ubiquitination and ferroptosis through stabilizing NEDD4L mRNA to impact stroke.0
383095032024NEDD4L intramolecular interactions regulate its auto and substrate Na(V)1.5 ubiquitination.0
385260362024NEDD4L is a promoter for angiogenesis and cell proliferation in human umbilical vein endothelial cells.1
388313352024NEDD4L mediates ITGB4 ubiquitination and degradation to suppress esophageal carcinoma progression.0
361362712023NEDD4L represses prostate cancer cell proliferation via modulating PHF8 through the ubiquitin-proteasome pathway.3
362575962023Nedd4L suppression in lung fibroblasts facilitates pathogenesis of lung fibrosis.6
368575922023Bacterial DNA promoting inflammation via the Sgk1/Nedd4L/Syk pathway in mast cells contributes to antihistamine-nonresponsive CSU.1

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/css/js/js/template.js