Gene: RPS6KB1

Alternate names for this Gene: PS6K|S6K|S6K-beta-1|S6K1|STK14A|p70 S6KA|p70(S6K)-alpha|p70-S6K|p70-alpha

Gene Summary: This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.1

Description of this Gene: ribosomal protein S6 kinase B1

Type of Gene: protein-coding

rs1292035 in RPS6KB1 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1292035 in RPS6KB1 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1292034 in RPS6KB1 gene and Chronic Lymphocytic Leukemia PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs1292035 in RPS6KB1 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1292034 in RPS6KB1 gene and Multiple Sclerosis PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

rs1292035 in RPS6KB1 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1292034 in RPS6KB1 gene and Small Lymphocytic Lymphoma PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs1051424 in RPS6KB1 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1292035 in RPS6KB1 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.