Aliases for SEH1L Gene
External Ids for SEH1L Gene
Previous GeneCards Identifiers for SEH1L Gene
The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SEH1L Gene
SEH1L (SEH1 Like Nucleoporin) is a Protein Coding gene. Diseases associated with SEH1L include Anonychia Congenita. Among its related pathways are Transport of Mature Transcript to Cytoplasm and Regulation of Glucokinase by Glucokinase Regulatory Protein.
UniProtKB/Swiss-Prot for SEH1L Gene
Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore.
As a component of the GATOR subcomplex GATOR2, functions as an activator of the amino acid-sensing branch of the TORC1 pathway. Inhibits the GATOR1 subcomplex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway (PubMed:23723238). Functions downstream and is regulated by amino acid sensors like SESN2 (PubMed:25457612).