Gene: RPS6KA1

Alternate names for this Gene: HU-1|MAPKAPK1|MAPKAPK1A|RSK|RSK1|p90Rsk

Gene Summary: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: ribosomal protein S6 kinase A1

Type of Gene: protein-coding

rs4970485 in RPS6KA1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6670311 in RPS6KA1 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.

rs17162190 in RPS6KA1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1002487 in RPS6KA1 gene and Triglycerides measurement PMID 30108155 2018 Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.