RPS6KA3
{{Short description|Enzyme found in humans}}
{{Infobox_gene}}
protein S6 kinase, 90kDa, polypeptide 3, also s RPS6KA3, is an enzyme that in humans is encoded by the RPS6KA3 gene.{{cite web | title = Entrez Gene: RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6197}}{{cite journal | vauthors = Moller DE, Xia CH, Tang W, Zhu AX, Jakubowski M | title = Human rsk isoforms: cloning and characterization of tissue-specific expression | journal = The American Journal of Physiology | volume = 266 | issue = 2 Pt 1 | pages = C351–9 | date = February 1994 | pmid = 8141249 | doi = 10.1152/ajpcell.1994.266.2.C351| url = http://ajpcell.physiology.org/cgi/content/abstract/266/2/C351 | url-access = subscription }}
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).{{cite journal | vauthors = Jacquot S, Zeniou M, Touraine R, Hanauer A | title = X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1) | journal = European Journal of Human Genetics | volume = 10 | issue = 1 | pages = 2–5 | date = January 2002 | pmid = 11896450 | doi = 10.1038/sj.ejhg.5200738 | doi-access = free }}
Interactions
RPS6KA3 has been shown to interact with CREB-binding protein,{{cite journal | vauthors = Merienne K, Pannetier S, Harel-Bellan A, Sassone-Corsi P | title = Mitogen-regulated RSK2-CBP interaction controls their kinase and acetylase activities | journal = Molecular and Cellular Biology | volume = 21 | issue = 20 | pages = 7089–96 | date = October 2001 | pmid = 11564891 | pmc = 99884 | doi = 10.1128/MCB.21.20.7089-7096.2001 }} MAPK1{{cite journal | vauthors = Zhao Y, Bjorbaek C, Moller DE | title = Regulation and interaction of pp90(rsk) isoforms with mitogen-activated protein kinases | journal = The Journal of Biological Chemistry | volume = 271 | issue = 47 | pages = 29773–9 | date = November 1996 | pmid = 8939914 | doi = 10.1074/jbc.271.47.29773 | doi-access =free }}{{cite journal | vauthors = Smith JA, Poteet-Smith CE, Malarkey K, Sturgill TW | title = Identification of an extracellular signal-regulated kinase (ERK) docking site in ribosomal S6 kinase, a sequence critical for activation by ERK in vivo | journal = The Journal of Biological Chemistry | volume = 274 | issue = 5 | pages = 2893–8 | date = January 1999 | pmid = 9915826 | doi = 10.1074/jbc.274.5.2893 | doi-access = free }} and PEA15.{{cite journal | vauthors = Vaidyanathan H, Ramos JW | title = RSK2 activity is regulated by its interaction with PEA-15 | journal = The Journal of Biological Chemistry | volume = 278 | issue = 34 | pages = 32367–72 | date = August 2003 | pmid = 12796492 | doi = 10.1074/jbc.M303988200 | doi-access = free }}
References
{{Reflist}}
Further reading
{{Refbegin | 2}}
- {{cite journal | vauthors = Omary MB, Baxter GT, Chou CF, Riopel CL, Lin WY, Strulovici B | title = PKC epsilon-related kinase associates with and phosphorylates cytokeratin 8 and 18 | journal = The Journal of Cell Biology | volume = 117 | issue = 3 | pages = 583–93 | date = May 1992 | pmid = 1374067 | pmc = 2289443 | doi = 10.1083/jcb.117.3.583 }}
- {{cite journal | vauthors = Ku NO, Omary MB | title = Identification of the major physiologic phosphorylation site of human keratin 18: potential kinases and a role in filament reorganization | journal = The Journal of Cell Biology | volume = 127 | issue = 1 | pages = 161–71 | date = October 1994 | pmid = 7523419 | pmc = 2120194 | doi = 10.1083/jcb.127.1.161 }}
- {{cite journal | vauthors = Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O | title = Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence | journal = Nature | volume = 377 | issue = 6547 Suppl | pages = 3–174 | date = September 1995 | pmid = 7566098 | doi = | url = http://www.columbia.edu/itc/biology/pollack/w4065/client_edit/readings/nature377_3.pdf }}
- {{cite journal | vauthors = Zhao Y, Bjørbaek C, Weremowicz S, Morton CC, Moller DE | title = RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation | journal = Molecular and Cellular Biology | volume = 15 | issue = 8 | pages = 4353–63 | date = August 1995 | pmid = 7623830 | pmc = 230675 | doi = 10.1128/MCB.15.8.4353}}
- {{cite journal | vauthors = Bjørbaek C, Vik TA, Echwald SM, Yang PY, Vestergaard H, Wang JP, Webb GC, Richmond K, Hansen T, Erikson RL | title = 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 | journal = Diabetes | volume = 44 | issue = 1 | pages = 90–7 | date = January 1995 | pmid = 7813820 | doi = 10.2337/diabetes.44.1.90 }}
- {{cite journal | vauthors = Donnelly AJ, Choo KH, Kozman HM, Gedeon AK, Danks DM, Mulley JC | title = Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22 | journal = American Journal of Medical Genetics | volume = 51 | issue = 4 | pages = 581–5 | date = July 1994 | pmid = 7943043 | doi = 10.1002/ajmg.1320510457 }}
- {{cite journal | vauthors = Moller DE, Xia CH, Tang W, Zhu AX, Jakubowski M | title = Human rsk isoforms: cloning and characterization of tissue-specific expression | journal = The American Journal of Physiology | volume = 266 | issue = 2 Pt 1 | pages = C351–9 | date = February 1994 | pmid = 8141249 | doi = 10.1152/ajpcell.1994.266.2.C351}}
- {{cite journal | vauthors = Xing J, Ginty DD, Greenberg ME | title = Coupling of the RAS-MAPK pathway to gene activation by RSK2, a growth factor-regulated CREB kinase | journal = Science | volume = 273 | issue = 5277 | pages = 959–63 | date = August 1996 | pmid = 8688081 | doi = 10.1126/science.273.5277.959 | bibcode = 1996Sci...273..959X | s2cid = 22226803 }}
- {{cite journal | vauthors = Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, Sassone-Corsi P, Hanauer A | title = Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome | journal = Nature | volume = 384 | issue = 6609 | pages = 567–70 | date = December 1996 | pmid = 8955270 | doi = 10.1038/384567a0 | bibcode = 1996Natur.384..567T | s2cid = 4242547 }}
- {{cite journal | vauthors = Paudel HK | title = Phosphorylation by neuronal cdc2-like protein kinase promotes dimerization of Tau protein in vitro | journal = The Journal of Biological Chemistry | volume = 272 | issue = 45 | pages = 28328–34 | date = November 1997 | pmid = 9353289 | doi = 10.1074/jbc.272.45.28328 | doi-access = free }}
- {{cite journal | vauthors = Joel PB, Smith J, Sturgill TW, Fisher TL, Blenis J, Lannigan DA | title = pp90rsk1 regulates estrogen receptor-mediated transcription through phosphorylation of Ser-167 | journal = Molecular and Cellular Biology | volume = 18 | issue = 4 | pages = 1978–84 | date = April 1998 | pmid = 9528769 | pmc = 121427 | doi = 10.1128/mcb.18.4.1978 }}
- {{cite journal | vauthors = Zheng-Fischhöfer Q, Biernat J, Mandelkow EM, Illenberger S, Godemann R, Mandelkow E | title = 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 | journal = European Journal of Biochemistry | volume = 252 | issue = 3 | pages = 542–52 | date = March 1998 | pmid = 9546672 | doi = 10.1046/j.1432-1327.1998.2520542.x | doi-access = free }}
- {{cite journal | vauthors = Deak M, Clifton AD, Lucocq LM, Alessi DR | title = Mitogen- and stress-activated protein kinase-1 (MSK1) is directly activated by MAPK and SAPK2/p38, and may mediate activation of CREB | journal = The EMBO Journal | volume = 17 | issue = 15 | pages = 4426–41 | date = August 1998 | pmid = 9687510 | pmc = 1170775 | doi = 10.1093/emboj/17.15.4426 }}
- {{cite journal | vauthors = Du K, Montminy M | title = CREB is a regulatory target for the protein kinase Akt/PKB | journal = The Journal of Biological Chemistry | volume = 273 | issue = 49 | pages = 32377–9 | date = December 1998 | pmid = 9829964 | doi = 10.1074/jbc.273.49.32377 | doi-access = free }}
- {{cite journal | vauthors = Hanger DP, Betts JC, Loviny TL, Blackstock WP, Anderton BH | title = New phosphorylation sites identified in hyperphosphorylated tau (paired helical filament-tau) from Alzheimer's disease brain using nanoelectrospray mass spectrometry | journal = Journal of Neurochemistry | volume = 71 | issue = 6 | pages = 2465–76 | date = December 1998 | pmid = 9832145 | doi = 10.1046/j.1471-4159.1998.71062465.x | doi-access = free }}
- {{cite journal | vauthors = Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, Hanauer A | title = Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations | journal = American Journal of Human Genetics | volume = 63 | issue = 6 | pages = 1631–40 | date = December 1998 | pmid = 9837815 | pmc = 1377634 | doi = 10.1086/302153 }}
- {{cite journal | vauthors = Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A | title = Germline mosaicism in Coffin-Lowry syndrome | journal = European Journal of Human Genetics | volume = 6 | issue = 6 | pages = 578–82 | year = 1999 | pmid = 9887375 | doi = 10.1038/sj.ejhg.5200230 | doi-access = free }}
- {{cite journal | vauthors = Smith JA, Poteet-Smith CE, Malarkey K, Sturgill TW | title = Identification of an extracellular signal-regulated kinase (ERK) docking site in ribosomal S6 kinase, a sequence critical for activation by ERK in vivo | journal = The Journal of Biological Chemistry | volume = 274 | issue = 5 | pages = 2893–8 | date = January 1999 | pmid = 9915826 | doi = 10.1074/jbc.274.5.2893 | doi-access = free }}
- {{cite journal | vauthors = Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE | title = Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) | journal = European Journal of Human Genetics | volume = 7 | issue = 1 | pages = 20–6 | date = January 1999 | pmid = 10094187 | doi = 10.1038/sj.ejhg.5200231 | doi-access = free }}
- {{cite journal | vauthors = Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A | title = A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation | journal = Nature Genetics | volume = 22 | issue = 1 | pages = 13–4 | date = May 1999 | pmid = 10319851 | doi = 10.1038/8719 | s2cid = 30949315 }}
{{Refend}}
External links
- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cls GeneReviews/NCBI/NIH/UW entry on Coffin–Lowry syndrome]
{{Serine/threonine-specific protein kinases}}
{{Enzymes}}
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