Gene: KPNA1

Alternate names for this Gene: IPOA5|NPI-1|RCH2|SRP1

Gene Summary: The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.1

Description of this Gene: karyopherin subunit alpha 1

Type of Gene: protein-coding

rs9789994 in KPNA1 gene and Calcium level result PMID 20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

rs9789994 in KPNA1 gene and Calcium measurement PMID 20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

rs10934602 in KPNA1 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.

rs11406672 in KPNA1 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs11720985 in KPNA1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.