NUP153

Description

The NUP153 (nucleoporin 153) is a protein-coding gene located on chromosome 6.

Nucleoporin 153 (Nup153) is a protein which in humans is encoded by the NUP153 gene. It is an essential component of the basket of nuclear pore complexes (NPCs) in vertebrates, and is required for the anchoring of NPCs. It also acts as the docking site of an importing karyopherin. On the cytoplasmic side of the NPC, Nup358 fulfills an analogous role.

== Background ==

Nuclear pore complexes are extremely elaborate structures that mediate the regulated movement of macromolecules between the nucleus and cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are pore complex-specific glycoproteins characterized by cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG.

== Structure == Nucleoporin 153 has a mass of 153 kDA (hence its name). It is filamentous, and it contains three distinct domains: an N-terminal region within which a pore targeting domain has been identified, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats.

== Interactions == NUP153 has been shown to interact with SENP2 and KPNB1.

NUP153, a key component of the nuclear pore complex (NPC), plays a crucial role in regulating the transport of molecules across the nuclear envelope. As a scaffolding element in the nuclear basket of the NPC, it ensures the proper movement of proteins and messenger RNAs (mRNAs) between the nucleus and cytoplasm. NUP153 is involved in quality control mechanisms within the nucleus, retaining unspliced mRNAs and preventing their premature export. In collaboration with the TPR protein, it regulates the export of unspliced mRNA species containing a constitutive transport element (CTE) in a manner independent of NXF1 and KHDRBS1. NUP153 secures the anchoring of TPR to the nuclear membrane at the NPC. The repetitive domains within NUP153 may contribute to the anchoring of other NPC components to the pore membrane. Additionally, NUP153 is proposed as a potential DNA-binding subunit of the NPC.

NUP153 is also known as HNUP153, N153.

Associated Diseases

WES Whole Exome Sequencing