Aliases for SEC13 Gene
External Ids for SEC13 Gene
Previous HGNC Symbols for SEC13 Gene
Previous GeneCards Identifiers for SEC13 Gene
The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]
GeneCards Summary for SEC13 Gene
SEC13 (SEC13 Homolog, Nuclear Pore And COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC13 include Craniolenticulosutural Dysplasia and Anemia, Congenital Dyserythropoietic, Type Ii. Among its related pathways are Cell Cycle, Mitotic and Signaling by GPCR. An important paralog of this gene is SEH1L.
UniProtKB/Swiss-Prot Summary for SEC13 Gene
Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles (PubMed:8972206). Required for the exit of adipsin (CFD/ADN), an adipocyte-secreted protein from the endoplasmic reticulum (By similarity).
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).