NUP205
Function
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283). In association with TMEM209, may be involved in nuclear transport of various nuclear proteins in addition to MYC (PubMed:22719065).
Involvement in disease
Nephrotic syndrome 13
NPHS13
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the NUP186/NUP192/NUP205 family.
Tissue Specificity
Expressed in the testis.
Cellular localization
- Nucleus membrane
- Peripheral membrane protein
- Nucleus
- Nuclear pore complex
- Localized near the center, on both the cytoplasmic and nuclear side, of the NPC core structure.
Alternative names
C7orf14, KIAA0225, NUP205, Nuclear pore complex protein Nup205, 205 kDa nucleoporin, Nucleoporin Nup205