Aliases for NUP107 Gene
External Ids for NUP107 Gene
Previous GeneCards Identifiers for NUP107 Gene
This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for NUP107 Gene
NUP107 (Nucleoporin 107kDa) is a Protein Coding gene. Diseases associated with NUP107 include familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis and 46,xx testicular disorder of sex development. Among its related pathways are RNA transport and Regulation of Glucokinase by Glucokinase Regulatory Protein. GO annotations related to this gene include nucleocytoplasmic transporter activity and structural constituent of nuclear pore.
UniProtKB/Swiss-Prot for NUP107 Gene
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Required for the assembly of peripheral proteins into the NPC. May anchor NUP62 to the NPC.