Gene: KPNB1

Alternate names for this Gene: IMB1|IPO1|IPOB|Impnb|NTF97

Gene Summary: Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.32

Description of this Gene: karyopherin subunit beta 1

Type of Gene: protein-coding

rs11870935 in KPNB1 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs8078686 in KPNB1 gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs11870935 in KPNB1 gene and High density lipoprotein measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs11870935 in KPNB1 gene and Low density lipoprotein cholesterol measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs4794048 in KPNB1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4794048 in KPNB1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8078686 in KPNB1 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs11870935 in KPNB1 gene and Triglycerides measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.