KPNB1 karyopherin subunit beta 1
Gene ID: 3837, updated on 14-Nov-2024Gene type: protein coding
Also known as: IMB1; IPO1; IPOB; Impnb; NTF97
- See all available tests in GTR for this gene
- Go to complete Gene record for KPNB1
- Go to Variation Viewer for KPNB1 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. GeneReviews: Not available | |
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. GeneReviews: Not available |
Genomic context
- Location:
- 17q21.32
- Sequence:
- Chromosome: 17; NC_000017.11 (47649919..47685505)
- Total number of exons:
- 23
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for KPNB1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.