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 plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Pathway
Activated NOTCH1 Transmits Signal to the Nucleus; Adaptive Immune System; Antigen processing: Ubiquitination and Proteasome degradation; CXCR4-mediated signaling events; Calcineurin-regulated NFAT-dependent transcription in lymphocytes; Class I MHC mediated antigen processing and presentation; Delta-Notch Signaling Pathway; Disease
Citations
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