itchy E3 ubiquitin protein ligase(ITCH) Homo sapiens 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],function:E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response.,pathway:Protein modification, protein ubiquitination.,PTM:Phosphorylated on tyrosine residues.,similarity:Contains 1 C2 domain.,similarity:Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.,similarity:Contains 4 WW domains.,subunit:Interacts via its WW domains with DRPLA, NFE2 and CBLC. Interacts with Epstein-Barr virus LMP2A. Interacts with NOTCH1, OCLN, JUN and JUNB. Interacts with NDFIP1 in vitro (By similarity). Interacts with ARHGEF7.,tissue specificity:Widely expressed.,
