Description: Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase (NEDD4L), transcript variant c, mRNA. RefSeq Summary (NM_001144970): 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]. Transcript (Including UTRs) Position: hg19 chr18:55,862,622-56,068,772 Size: 206,151 Total Exon Count: 29 Strand: + Coding Region Position: hg19 chr18:55,989,672-56,063,501 Size: 73,830 Coding Exon Count: 24
Asthma C Ober et al. American journal of human genetics 2000, A second-generation genomewide screen for asthma-susceptibility alleles in a founder population., American journal of human genetics.
[PubMed 11022011]
gamma-Glutamyltransferase John C Chambers et al. Nature genetics 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma., Nature genetics.
[PubMed 22001757]
hypertension Nanfang Li , et al. BMC medical genetics 2009 10():130, Genetic variation of NEDD4L is associated with essential hypertension in female Kazakh general population: a case-control study., BMC medical genetics 2009 10():130.
[PubMed 20003179]
The genetic variations of NEDD4L may be associated with essential hypertension in females in the Kazakh general population.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96PU5-9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q96PU5 (Reactome details) participates in the following event(s):
R-HSA-3159232 Recruitment Of HIV Virion Budding Machinery R-NUL-2176427 NEDD4L ubiquitinates Smad7 and TGFBR1 R-HSA-2176416 NEDD4L ubiquitin ligase binds SMAD7 R-NUL-2176430 NEDD4L binds Smad7 R-HSA-2176491 NEDD4L binds phosphorylated linker region of SMAD2/3 R-HSA-2176502 NEDD4L ubiquitinates SMAD2/3 R-HSA-2176417 SMAD7:NEDD4L complex translocates to the cytosol R-NUL-2176431 Smad7 recruits NEDD4L to activated TGF-beta receptor complex R-NUL-2176428 Translocation of Smad7:NEDD4L complex to the cytosol R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-983147 Release of E3 from polyubiquitinated substrate R-HSA-2169050 SMURFs/NEDD4L ubiquitinate phosphorylated TGFBR1 and SMAD7 R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-178218 SMAD7:SMURF complex binds to phosphorylated TGFBR1 R-HSA-2682349 RAF1:SGK:TSC22D3:WPP ubiquitinates SCNN channels R-HSA-162588 Budding and maturation of HIV virion R-HSA-2173788 Downregulation of TGF-beta receptor signaling R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-162599 Late Phase of HIV Life Cycle R-HSA-2173789 TGF-beta receptor signaling activates SMADs R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-162587 HIV Life Cycle R-HSA-170834 Signaling by TGF-beta Receptor Complex R-HSA-212436 Generic Transcription Pathway R-HSA-1280218 Adaptive Immune System R-HSA-2672351 Stimuli-sensing channels R-HSA-162906 HIV Infection R-HSA-9006936 Signaling by TGF-beta family members R-HSA-73857 RNA Polymerase II Transcription R-HSA-168256 Immune System R-HSA-983712 Ion channel transport R-HSA-5663205 Infectious disease R-HSA-162582 Signal Transduction R-HSA-74160 Gene expression (Transcription) R-HSA-382551 Transport of small molecules R-HSA-1643685 Disease
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