The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
Function:
May function as a component of the nuclear pore complex (NPC).
Subcellular Location:
Nucleus, nuclear pore complex.
DISEASE:
Copy number variations of NUP188 gene may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left-right (LR) body patterning.
SWISS:
Q5SRE5
Gene ID:
23511
Database links:
Entrez Gene: 23511 Human
Entrez Gene: 227699 Mouse
Entrez Gene: 366016 Rat
Omim: 615587 Human
SwissProt: Q5SRE5 Human
SwissProt: Q6ZQH8 Mouse
Unigene: 308340 Human
Unigene: 330119 Mouse
Unigene: 11918 Rat
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