KPNB1

karyopherin subunit beta 1

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. [provided by RefSeq, Feb 2013]

Known Variants12 total

rsidPosition (GRCh37)AllelesClassClinVar
rs250889214717:45,730,151C/Tuncertain significance
rs14768841317:45,734,371C/Tuncertain significance
rs250889908317:45,735,920T/Cuncertain significance
rs426443317:45,737,275A/Tintron variant
rs250890469717:45,740,504A/Guncertain significance
rs990558317:45,741,016C/Tintron variant
rs250890638017:45,741,547G/Auncertain significance
rs250891753917:45,748,141A/Cuncertain significance
rs721308617:45,752,310C/T
rs7714241517:45,752,738G/C
rs250892696517:45,753,825G/Auncertain significance
rs14906881917:45,753,845T/Cbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.