NUP93

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms.

nuclear pore complex protein Nup93

Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540).
May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling (PubMed:26878725).

Nuclear envelope organizationManual Assertion Based On ExperimentIDA:UniProtKB
Nuclear pore complex assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Nucleocytoplasmic transport1 PublicationIC:ComplexPortal
Poly(A)+ mRNA export from nucleusManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of SMAD protein signal transductionManual Assertion Based On ExperimentIDA:UniProtKB
Protein import into nucleusManual Assertion Based On ExperimentIBA:GO_Central
SMAD protein signal transductionManual Assertion Based On ExperimentIDA:UniProtKB

Nucleus membrane
Nucleus, nuclear pore complex
Nucleus envelope
Localizes at the nuclear basket and at or near the nuclear entry to the gated channel of the pore.

Nephrotic syndrome 12 (NPHS12):
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. NPHS12 inheritance is autosomal recessive.