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Gene : NEDD4L Homo sapiens

Name  ? NEDD4 like E3 ubiquitin protein ligase Cytological Location  18q21.31
Brief Description  NEDD4 like E3 ubiquitin protein ligase
Description  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]
  • synonyms:
  • RSP5,
  • neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase,
  • RSP5,
  • NEDD4-2,
  • NEDD4.2,
  • HGNC:7728,
  • KIAA0439,
  • NEDD4L,
  • NEDD4-2,
  • neural precursor cell expressed, developmentally down-regulated 4-like,
  • OTTHUMG00000179875,
  • uc002lgy.4,
  • PVNH7,
  • NM_001144964,
  • hNEDD4-2,
  • AF210730
  • identifiers:
  • 23327,
  • ENSG00000049759,
  • NEDD4L

Genome feature

Region: gene ? Length: 357315  
Location: 18:58044226-58401540 Cyto location: 18q21.31


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Disease

1 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results