Entrez gene ID | | 83737 |
Official gene symbol | | ITCH |
Full name | | itchy E3 ubiquitin protein ligase homolog (mouse) |
Aliases | | ,AIF4,AIP4,NAPP1,dJ468O1.1, |
Gene summary | | Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. The protein encoded by this gene interacts with atrophin-1. This encoded protein is a closely related member of the NEDD4-like protein family. This family of proteins are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. This encoded protein contains four tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. It can act as a transcriptional corepressor of p45/NFE2 and may participate in the regulation of immune responses by modifying Notch-mediated signaling. It is highly similar to the mouse Itch protein, which has been implicated in the regulation and differentiation of erythroid and lymphoid cells. [provided by RefSeq] |
Location | | Chromosome: 20 Locus: 20q11.22-q11.23 |
Gene position | | 32951062 - 33099197 Map Viewer |
Gene orientation | | plus |
Gene size | | 148136 bp |
Gene sequence |
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OMIM ID | | 606409 |