Nuclear pore complex protein Nup107
Function
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Ovarian dysgenesis 6
ODG6
A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition.
None
The disease may be caused by variants affecting the gene represented in this entry.
Galloway-Mowat syndrome 7
GAMOS7
A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the nucleoporin Nup84/Nup107 family.
Tissue Specificity
Ubiquitously expressed in fetal and adult tissues.
Cellular localization
- Nucleus membrane
- Nucleus
- Nuclear pore complex
- Chromosome
- Centromere
- Kinetochore
- Located on both the cytoplasmic and nuclear sides of the NPC core structure (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). Dissociates from the dissasembled NPC structure late during prophase of mitosis (PubMed:11564755).
Alternative names
Nuclear pore complex protein Nup107, 107 kDa nucleoporin, Nucleoporin Nup107, NUP107