NUP107

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.

nucleoporin 107

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:15229283, PubMed:12552102).
May anchor NUP62 to the NPC (PubMed:15229283).
Involved in nephrogenesis (PubMed:30179222).

Female gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
mRNA export from nucleusManual Assertion Based On ExperimentIDA:UniProtKB
Nephron developmentManual Assertion Based On ExperimentIMP:UniProtKB
Nuclear pore complex assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Nucleocytoplasmic transport1 PublicationIC:ComplexPortal
Posttranscriptional tethering of RNA polymerase II gene DNA at nuclear peripheryManual Assertion Based On ExperimentIBA:GO_Central
Protein import into nucleusManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIBA:GO_Central

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).

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.
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.
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.