NUP107 gene

nucleoporin 107

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Nephrotic syndrome, type 11

From UniProt:

Nephrotic syndrome 11 (NPHS11): A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life. [MIM:616730]

Cytogenetic Location: 12q15, which is the long (q) arm of chromosome 12 at position 15

Molecular Location: base pairs 68,686,951 to 68,742,693 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q15, which is the long (q) arm of chromosome 12 at position 15
  • NPHS11
  • NUP84