KAP104 - Kap104p (Saccharomyces cerevisiae S288C)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2024-12-26
Description
Enables nuclear localization sequence binding activity. Involved in exit from mitosis and protein import into nucleus. Located in cellular bud neck; cellular bud tip; and cytosol. Human ortholog(s) of this gene implicated in intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies. Orthologous to several human genes including TNPO2 (transportin 2).
Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for arginine/glycine-rich nuclear localization signals (rg-NLS) and PY-NLS in cargo substrates. Its predominant cargo substrate seems to be mRNA-binding proteins. Required for nuclear transport of NAB2, HRP1/NAB4 and TFG2. Mediates docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to repeat-containing nucleoporins (PMID: 10506153, PMID: 19366694, PMID: 8849456, PMID: 9488461). The complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism (PMID: 11423015). At the nucleoplasmic side of the NPC, GTP-Ran binding leads to release of the cargo. Efficient GTP-Ran-mediated substrate release requires RNA (PMID: 10506153). The importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. 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 (PMID: 11423015).
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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