Disease-gene associations mined from literature

Literature associating IPO11 and triple-A syndrome

IPO11 [ENSP00000386992]

Ran-binding protein 11; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBE2E3, and of RPL12 (By similarity); Importins

Synonyms:  IPO11,  IPO11p,  hIPO11,  D6RCN7,  D6RCQ2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM