Biology:RPS6KA3

Short description: Enzyme found in humans

Generic protein structure example

protein S6 kinase, 90kDa, polypeptide 3, also s RPS6KA3, is an enzyme that in humans is encoded by the RPS6KA3 gene.

Function

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical 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.

Clinical significance

Mutations in this gene have been associated with Coffin–Lowry syndrome (CLS).

Interactions

RPS6KA3 has been shown to interact with CREB-binding protein, MAPK1 and PEA15.

Further reading

• "PKC epsilon-related kinase associates with and phosphorylates cytokeratin 8 and 18". The Journal of Cell Biology 117 (3): 583–93. May 1992. doi:10.1083/jcb.117.3.583. PMID 1374067. 
• "Identification of the major physiologic phosphorylation site of human keratin 18: potential kinases and a role in filament reorganization". The Journal of Cell Biology 127 (1): 161–71. October 1994. doi:10.1083/jcb.127.1.161. PMID 7523419. 
• "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence". Nature 377 (6547 Suppl): 3–174. September 1995. PMID 7566098. http://www.columbia.edu/itc/biology/pollack/w4065/client_edit/readings/nature377_3.pdf. 
• "RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation". Molecular and Cellular Biology 15 (8): 4353–63. August 1995. doi:10.1128/MCB.15.8.4353. PMID 7623830. 
• "Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients". Diabetes 44 (1): 90–7. January 1995. doi:10.2337/diabetes.44.1.90. PMID 7813820. 
• "Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22". American Journal of Medical Genetics 51 (4): 581–5. July 1994. doi:10.1002/ajmg.1320510457. PMID 7943043. 
• "Human rsk isoforms: cloning and characterization of tissue-specific expression". The American Journal of Physiology 266 (2 Pt 1): C351–9. February 1994. doi:10.1152/ajpcell.1994.266.2.C351. PMID 8141249. 
• "Coupling of the RAS-MAPK pathway to gene activation by RSK2, a growth factor-regulated CREB kinase". Science 273 (5277): 959–63. August 1996. doi:10.1126/science.273.5277.959. PMID 8688081. Bibcode: 1996Sci...273..959X. 
• "Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome". Nature 384 (6609): 567–70. December 1996. doi:10.1038/384567a0. PMID 8955270. Bibcode: 1996Natur.384..567T. 
• "Phosphorylation by neuronal cdc2-like protein kinase promotes dimerization of Tau protein in vitro". The Journal of Biological Chemistry 272 (45): 28328–34. November 1997. doi:10.1074/jbc.272.45.28328. PMID 9353289. 
• "pp90rsk1 regulates estrogen receptor-mediated transcription through phosphorylation of Ser-167". Molecular and Cellular Biology 18 (4): 1978–84. April 1998. doi:10.1128/mcb.18.4.1978. PMID 9528769. 
• "Sequential phosphorylation of Tau by glycogen synthase kinase-3beta and protein kinase A at Thr212 and Ser214 generates the Alzheimer-specific epitope of antibody AT100 and requires a paired-helical-filament-like conformation". European Journal of Biochemistry 252 (3): 542–52. March 1998. doi:10.1046/j.1432-1327.1998.2520542.x. PMID 9546672. 
• "Mitogen- and stress-activated protein kinase-1 (MSK1) is directly activated by MAPK and SAPK2/p38, and may mediate activation of CREB". The EMBO Journal 17 (15): 4426–41. August 1998. doi:10.1093/emboj/17.15.4426. PMID 9687510. 
• "CREB is a regulatory target for the protein kinase Akt/PKB". The Journal of Biological Chemistry 273 (49): 32377–9. December 1998. doi:10.1074/jbc.273.49.32377. PMID 9829964. 
• "New phosphorylation sites identified in hyperphosphorylated tau (paired helical filament-tau) from Alzheimer's disease brain using nanoelectrospray mass spectrometry". Journal of Neurochemistry 71 (6): 2465–76. December 1998. doi:10.1046/j.1471-4159.1998.71062465.x. PMID 9832145. 
• "Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations". American Journal of Human Genetics 63 (6): 1631–40. December 1998. doi:10.1086/302153. PMID 9837815. 
• "Germline mosaicism in Coffin-Lowry syndrome". European Journal of Human Genetics 6 (6): 578–82. 1999. doi:10.1038/sj.ejhg.5200230. PMID 9887375. 
• "Identification of an extracellular signal-regulated kinase (ERK) docking site in ribosomal S6 kinase, a sequence critical for activation by ERK in vivo". The Journal of Biological Chemistry 274 (5): 2893–8. January 1999. doi:10.1074/jbc.274.5.2893. PMID 9915826. 
• "Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)". European Journal of Human Genetics 7 (1): 20–6. January 1999. doi:10.1038/sj.ejhg.5200231. PMID 10094187. 
• "A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation". Nature Genetics 22 (1): 13–4. May 1999. doi:10.1038/8719. PMID 10319851. 

External links

• GeneReviews/NCBI/NIH/UW entry on Coffin–Lowry syndrome