Nucleoporin 62kDa (NUP62) ELISA Kit for Human

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. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]

NUP62: Essential component of the nuclear pore complex. The N- terminal is probably involved in nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil formation and may function in anchorage of p62 to the pore complex. Defects in NUP62 are the cause of infantile striatonigral degeneration (SNDI); also known as infantile bilateral striatal necrosis (IBSN) or familial striatal degeneration. SNDI is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy and mental retardation. Belongs to the nucleoporin NSP1/NUP62 family.

Protein type: Adaptor/scaffold; Nucleoporin

Chromosomal Location of Human Ortholog: 19q13.33

Cellular Component: annulate lamellae; cytoplasm; intracellular membrane-bound organelle; nuclear envelope; nuclear membrane; nuclear pore; nucleocytoplasmic shuttling complex; pore complex; ribonucleoprotein complex; spindle pole

Molecular Function: chromatin binding; kinesin binding; nucleocytoplasmic transporter activity; protein binding; receptor signaling complex scaffold activity; SH2 domain binding; structural constituent of nuclear pore; thyroid hormone receptor binding; ubiquitin binding

Biological Process: carbohydrate metabolic process; cell death; cell surface receptor linked signal transduction; cellular protein metabolic process; cytokine and chemokine mediated signaling pathway; gene expression; glucose transport; hexose transport; hormone-mediated signaling; mitosis; mitotic cell cycle; mitotic nuclear envelope disassembly; modification by virus of host cellular process; mRNA transport; negative regulation of apoptosis; negative regulation of cell proliferation; negative regulation of programmed cell death; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription, DNA-dependent; post-translational protein modification; protein import into nucleus; protein sumoylation; regulation of protein import into nucleus; regulation of Ras protein signal transduction; regulation of signal transduction; RNA-mediated gene silencing; spermatogenesis; transcription, DNA-dependent; transmembrane transport; tRNA processing; viral infectious cycle; viral reproduction; viral transcription; virus-host interaction

Disease: Striatonigral Degeneration, Infantile