Homo sapiens Gene: NEDD4L
Summary
InnateDB Gene IDBG-3835.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NEDD4L
Gene Name neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
Synonyms hNEDD4-2; NEDD4-2; NEDD4.2; RSP5;
Species Homo sapiens
Ensembl Gene ENSG00000049759
Encoded Proteins
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:58044367-58401540
Strand Forward strand
Band q21.31
Transcripts
ENST00000356462 ENSP00000348847
ENST00000256830 ENSP00000256830
ENST00000357895 ENSP00000350569
ENST00000382850 ENSP00000372301
ENST00000400345 ENSP00000383199
ENST00000456986 ENSP00000411947
ENST00000435432 ENSP00000393395
ENST00000456173 ENSP00000405440
ENST00000431212 ENSP00000389406
ENST00000587881 ENSP00000468332
ENST00000590694
ENST00000587547
ENST00000585323
ENST00000588066
ENST00000590638
ENST00000585594
ENST00000592097
ENST00000592846 ENSP00000466776
ENST00000588712
ENST00000591989
ENST00000589054 ENSP00000465669
ENST00000586263 ENSP00000468546
ENST00000590248
ENST00000586268 ENSP00000467072
ENST00000585363
ENST00000590506
ENST00000591579
ENST00000587634
ENST00000590020
ENST00000592601
ENST00000587190 ENSP00000467768
ENST00000588516
ENST00000589167
ENST00000588494 ENSP00000466789
ENST00000585970
ENST00000587246
ENST00000617539 ENSP00000479462
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 190 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated
Total 190 [view]
Protein-Protein 188 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 13 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0015459 potassium channel regulator activity
GO:0016874 ligase activity
GO:0017080 sodium channel regulator activity
GO:0019870 potassium channel inhibitor activity
GO:0019871 sodium channel inhibitor activity
GO:0044325 ion channel binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0003085 negative regulation of systemic arterial blood pressure
GO:0003254 regulation of membrane depolarization
GO:0006351 transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006513 protein monoubiquitination
GO:0006814 sodium ion transport
GO:0006883 cellular sodium ion homeostasis
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007588 excretion
GO:0009651 response to salt stress
GO:0010038 response to metal ion
GO:0010467 gene expression
GO:0010765 positive regulation of sodium ion transport
GO:0010766 negative regulation of sodium ion transport
GO:0016032 viral process
GO:0016567 protein ubiquitination
GO:0019058 viral life cycle
GO:0030104 water homeostasis
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0042176 regulation of protein catabolic process
GO:0042391 regulation of membrane potential
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043162 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
GO:0045732 positive regulation of protein catabolic process
GO:0045807 positive regulation of endocytosis
GO:0055085 transmembrane transport
GO:0060306 regulation of membrane repolarization
GO:0070936 protein K48-linked ubiquitination
GO:0086005 ventricular cardiac muscle cell action potential
GO:1901016 regulation of potassium ion transmembrane transporter activity
GO:1901017 negative regulation of potassium ion transmembrane transporter activity
GO:1901380 negative regulation of potassium ion transmembrane transport
GO:1902306 negative regulation of sodium ion transmembrane transport
GO:2000009 negative regulation of protein localization to cell surface
GO:2000650 negative regulation of sodium ion transmembrane transporter activity
GO:2000810 regulation of tight junction assembly
GO:2001259 positive regulation of cation channel activity
GO:2001288 positive regulation of caveolin-mediated endocytosis
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
Transmembrane transport of small molecules pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
Stimuli-sensing channels pathway
Late Phase of HIV Life Cycle pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
Generic Transcription Pathway pathway
Adaptive Immune System pathway
Immune System pathway
Antigen processing: Ubiquitination & Proteasome degradation pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
Ion channel transport pathway
HIV Life Cycle pathway
Downregulation of TGF-beta receptor signaling pathway
TGFBR1 KD Mutants in Cancer pathway
HIV Infection pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
Class I MHC mediated antigen processing & presentation pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
TGF-beta receptor signaling activates SMADs pathway
Budding and maturation of HIV virion pathway
Gene Expression pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
Downregulation of SMAD2/3:SMAD4 transcriptional activity pathway
KEGG
Ubiquitin mediated proteolysis pathway
Endocytosis pathway
Aldosterone-regulated sodium reabsorption pathway
INOH
PID BIOCARTA
PID NCI
Neurotrophic factor-mediated Trk receptor signaling
p73 transcription factor network
TGF-beta receptor signaling
Cross-References
SwissProt Q96PU5
TrEMBL A0A024R2A4 K7EN51 K7ENS6
UniProt Splice Variant
Entrez Gene 23327
UniGene Hs.185677 Hs.596255 Hs.600589 Hs.733655
RefSeq NM_001144966 NM_001243960 NM_001144967 NM_015277 NM_001144971 NM_001144968 NM_001144969 NM_001144970 NM_001144965 NM_001144964 XM_005266663 XM_006722427 XM_005266660
HUGO HGNC:7728
OMIM 606384
CCDS CCDS45875 CCDS58632 CCDS45872 CCDS45873 CCDS45876 CCDS45874 CCDS59323
HPRD 05903
IMGT
EMBL AB007899 AB071179 AC015988 AC090236 AC107896 AF210730 AF385931 AL137469 AY112983 AY112984 AY112985 AY312514 BC000621 BC019345 BC032597 CH471096 DQ181796
GenPept AAG43524 AAH00621 AAH19345 AAH32597 AAM46208 AAM76728 AAM76729 AAM76730 AAP75706 ABA10330 BAA23711 BAB69424 CAB70754 EAW63065 EAW63072 EAW63073
RNA Seq Atlas 23327