| Gene Symbol |
ITCH
|
| Gene Synonyms |
AIF4 AIP4 ADMFD NAPP1 |
| Gene Full Name |
itchy E3 ubiquitin protein ligase |
| Gene Summary |
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] |
| Alternative Names |
ADMFD AIF4 AIP4 Atrophin 1 interacting protein 4 Atrophin-1-interacting protein 4 dJ468O1.1 dJ468O1.1 (atrophin 1 interacting protein 4 (AIP4)) dJ468O1.1 atrophin 1 interacting protein 4 AIP4 E3 ubiquitin protein ligase Itchy homolog E3 ubiquitin-protein ligase Itchy homolog EC 6.3.2 Itch ITCH_HUMAN Itchy E3 ubiquitin protein ligase Itchy E3 ubiquitin protein ligase homolog Itchy E3 ubiquitin protein ligase homolog mouse Itchy E3 ubiquitin protein ligase mouse homolog of Itchy homolog E3 ubiquitin protein ligase Itchy mouse homolog E3 ubiquitin protein ligase NAPP1 NFE2 associated polypeptide 1 NFE2-associated polypeptide 1 Ubiquitin protein ligase ITCH |
| Molecular Weight(MW) |
103 kDa |
| Cellular Localization |
Cell membrane, Cytoplasm, Endosome, Membrane, Nucleus. |