GeneID: 90
Names
| Common Name: | NEDD4L | Type: | Gene |
|---|---|---|---|
| Chromosome: | 18 (NC_000018.10) | Locus: | NG_029954.1 (NEDD4L) |
| HUGO Symbol: | NEDD4L | Full Name: | neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase |
| Exons: | 31 | Introns: | 30 |
Description:
This gene encodes an E3 ubiquitin-protein ligase that belongs to the family of HECT (homologous to the E6-accessory protein C-terminus)-type ligases involved in the degradation of proteins via the ubiquitin-proteasome pathway. Members of this family are characterized by a C-terminal HECT domain that catalyses the transfer of ubiquitin to protein substrates and an N-terminal domain that determines the substrate specificity. The HECT domain is bilobal, with one lobe serving as a binding site for E2 ubiquitin-conjugated enzyme and the other lobe containing the catalytic cysteine residue that receives ubiquitin from the E2 enzyme to form a thioester-linked E3-ubiquitin complex required for protein ubiquitination. The encoded protein mediates the ubiquitination of multiple target substrates and plays a key 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. Polymorphisms in this gene associated with pulmonary hypertension in sickle cell patients. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Synonyms: RSP5 , NEDD4-2 , NEDD4.2 , hNEDD4-2
Comments:
N/A
Number of entries/variants: 2
Publications / Origin
- Kuratomi G, Komuro A, Goto K, Shinozaki M, Miyazawa K, Miyazono K, Imamura T, NEDD4-2 (neural precursor cell expressed, developmentally down-regulated 4-2) negatively regulates TGF-beta (transforming growth factor-beta) signalling by inducing ubiquitin-mediated degradation of Smad2 and TGF-beta type I receptor., Biochem. J. , 386(0), 461-70, 2005
- Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010
- Scheffner M, Kumar S, Mammalian HECT ubiquitin-protein ligases: biological and pathophysiological aspects., Biochim. Biophys. Acta , 1843(1), 61-74, 2014