RPS6KA3

RPS6KA3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4D9T, 4D9U, 4JG6, 4JG7, 4JG8, 4NUS, 4NW5, 4NW6, 5D9K, 5D9L
Identifiers
Aliases	RPS6KA3, CLS, HU-3, ISPK-1, MAPKAPK1B, MRX19, RSK, RSK2, S6K-alpha3, p90-RSK2, pp90RSK2, ribosomal protein S6 kinase A3, XLID19
External IDs	OMIM: 300075; MGI: 104557; HomoloGene: 37940; GeneCards: RPS6KA3; OMA:RPS6KA3 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xp22.12 Start 20,149,911 bp End 20,267,519 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X F4|X 73.27 cM Start 157,993,303 bp End 158,151,240 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cartilage tissue mucosa of sigmoid colon biceps brachii triceps brachii muscle islet of Langerhans deltoid muscle gastrocnemius muscle glutes quadriceps femoris muscle Skeletal muscle tissue of biceps brachii Top expressed in trigeminal ganglion body of femur left colon white adipose tissue lumbar spinal ganglion Paneth cell left lung lobe genital tubercle mandibular prominence gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein kinase activity nucleotide binding metal ion binding cysteine-type endopeptidase inhibitor activity involved in apoptotic process protein binding ATP binding protein kinase binding magnesium ion binding kinase activity protein serine/threonine kinase activity ribosomal protein S6 kinase activity Cellular component cytoplasm cytosol nucleoplasm nucleus Biological process skeletal system development negative regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of translation in response to stress intracellular signal transduction phosphorylation negative regulation of apoptotic process protein phosphorylation central nervous system development positive regulation of cell growth response to lipopolysaccharide positive regulation of cell differentiation cell cycle regulation of DNA-templated transcription in response to stress signal transduction positive regulation of transcription by RNA polymerase II toll-like receptor signaling pathway apoptotic process peptidyl-serine phosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6197 110651 Ensembl ENSG00000177189 ENSMUSG00000031309 UniProt P51812 P18654 RefSeq (mRNA) NM_004586 NM_148945 NM_001346675 RefSeq (protein) NP_004577 NP_001333604 NP_683747 Location (UCSC) Chr X: 20.15 – 20.27 Mb Chr X: 157.99 – 158.15 Mb PubMed search
Wikidata
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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

• Omary MB, Baxter GT, Chou CF, Riopel CL, Lin WY, Strulovici B (May 1992). "PKC epsilon-related kinase associates with and phosphorylates cytokeratin 8 and 18". The Journal of Cell Biology. 117 (3): 583–93. doi:10.1083/jcb.117.3.583. PMC 2289443. PMID 1374067.
• Ku NO, Omary MB (October 1994). "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. doi:10.1083/jcb.127.1.161. PMC 2120194. PMID 7523419.
• Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (September 1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
• Zhao Y, Bjørbaek C, Weremowicz S, Morton CC, Moller DE (August 1995). "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. doi:10.1128/MCB.15.8.4353. PMC 230675. PMID 7623830.
• Bjørbaek C, Vik TA, Echwald SM, Yang PY, Vestergaard H, Wang JP, Webb GC, Richmond K, Hansen T, Erikson RL (January 1995). "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. doi:10.2337/diabetes.44.1.90. PMID 7813820.
• Donnelly AJ, Choo KH, Kozman HM, Gedeon AK, Danks DM, Mulley JC (July 1994). "Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22". American Journal of Medical Genetics. 51 (4): 581–5. doi:10.1002/ajmg.1320510457. PMID 7943043.
• Moller DE, Xia CH, Tang W, Zhu AX, Jakubowski M (February 1994). "Human rsk isoforms: cloning and characterization of tissue-specific expression". The American Journal of Physiology. 266 (2 Pt 1): C351–9. doi:10.1152/ajpcell.1994.266.2.C351. PMID 8141249.
• Xing J, Ginty DD, Greenberg ME (August 1996). "Coupling of the RAS-MAPK pathway to gene activation by RSK2, a growth factor-regulated CREB kinase". Science. 273 (5277): 959–63. Bibcode:1996Sci...273..959X. doi:10.1126/science.273.5277.959. PMID 8688081. S2CID 22226803.
• Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, Sassone-Corsi P, Hanauer A (December 1996). "Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome". Nature. 384 (6609): 567–70. Bibcode:1996Natur.384..567T. doi:10.1038/384567a0. PMID 8955270. S2CID 4242547.
• Paudel HK (November 1997). "Phosphorylation by neuronal cdc2-like protein kinase promotes dimerization of Tau protein in vitro". The Journal of Biological Chemistry. 272 (45): 28328–34. doi:10.1074/jbc.272.45.28328. PMID 9353289.
• Joel PB, Smith J, Sturgill TW, Fisher TL, Blenis J, Lannigan DA (April 1998). "pp90rsk1 regulates estrogen receptor-mediated transcription through phosphorylation of Ser-167". Molecular and Cellular Biology. 18 (4): 1978–84. doi:10.1128/mcb.18.4.1978. PMC 121427. PMID 9528769.
• Zheng-Fischhöfer Q, Biernat J, Mandelkow EM, Illenberger S, Godemann R, Mandelkow E (March 1998). "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. doi:10.1046/j.1432-1327.1998.2520542.x. PMID 9546672.
• Deak M, Clifton AD, Lucocq LM, Alessi DR (August 1998). "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. doi:10.1093/emboj/17.15.4426. PMC 1170775. PMID 9687510.
• Du K, Montminy M (December 1998). "CREB is a regulatory target for the protein kinase Akt/PKB". The Journal of Biological Chemistry. 273 (49): 32377–9. doi:10.1074/jbc.273.49.32377. PMID 9829964.
• Hanger DP, Betts JC, Loviny TL, Blackstock WP, Anderton BH (December 1998). "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. doi:10.1046/j.1471-4159.1998.71062465.x. PMID 9832145.
• Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, Hanauer A (December 1998). "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. doi:10.1086/302153. PMC 1377634. PMID 9837815.
• Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A (1999). "Germline mosaicism in Coffin-Lowry syndrome". European Journal of Human Genetics. 6 (6): 578–82. doi:10.1038/sj.ejhg.5200230. PMID 9887375.
• Smith JA, Poteet-Smith CE, Malarkey K, Sturgill TW (January 1999). "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. doi:10.1074/jbc.274.5.2893. PMID 9915826.
• Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE (January 1999). "Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)". European Journal of Human Genetics. 7 (1): 20–6. doi:10.1038/sj.ejhg.5200231. PMID 10094187.
• Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A (May 1999). "A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation". Nature Genetics. 22 (1): 13–4. doi:10.1038/8719. PMID 10319851. S2CID 30949315.

External links

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