NUP133 gene

nucleoporin 133

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]

From UniProt:

Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222).

From NCBI Gene:

  • NEPHROTIC SYNDROME, TYPE 18

From UniProt:

Nephrotic syndrome 18 (NPHS18): 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 that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. [MIM:618177]

Cytogenetic Location: 1q42.13, which is the long (q) arm of chromosome 1 at position 42.13

Molecular Location: base pairs 229,440,259 to 229,508,342 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q42.13, which is the long (q) arm of chromosome 1 at position 42.13
  • GAMOS8
  • hNUP133
  • NPHS18