Gene: NUP153

Alternate names for this Gene: HNUP153|N153

Gene Summary: Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: nucleoporin 153

Type of Gene: protein-coding

rs12199222 in NUP153 gene and Body Height PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

rs12199222 in NUP153 gene and Height PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

rs1006066 in NUP153 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.