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 Nail Disorder, Nonsyndromic Congenital, 4 and Nonsyndromic Congenital Nail Disorder. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. An important paralog of this gene is SEC13.
UniProtKB/Swiss-Prot Summary 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 within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).