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{{ | '''Ribosomal protein S6 kinase, 90kDa, polypeptide 3''', also known as '''RPS6KA3''', is an [[enzyme]] that in humans is encoded by the ''RPS6KA3'' [[gene]].<ref name="entrez">{{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| accessdate = }}</ref><ref name="pmid8141249">{{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 }}</ref> | ||
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== Function == | |||
This gene encodes a member of the RSK ([[ribosomal S6 kinase]]) family of [[serine/threonine-specific protein kinase|serine/threonine kinase]]s. This kinase contains 2 non-identical kinase catalytic domains and [[phosphorylation|phosphorylates]] various substrates, including members of the [[mitogen-activated protein kinase|mitogen-activated kinase]] (MAPK) [[MAPK/ERK pathway|signalling pathway]]. The activity of this protein has been implicated in controlling cell growth and differentiation.<ref name="entrez" /> | |||
== | == Clinical significance == | ||
{{protein- | Mutations in this gene have been associated with [[Coffin–Lowry syndrome]] (CLS).<ref name="pmid11896450">{{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 }}</ref> | ||
{{ | |||
== Interactions == | |||
RPS6KA3 has been shown to [[Protein-protein interaction|interact]] with [[CREB-binding protein]],<ref name=pmid11564891>{{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 }}</ref> [[MAPK1]]<ref name=pmid8939914>{{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 }}</ref><ref name=pmid9915826>{{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 }}</ref> and [[PEA15]].<ref name=pmid12796492>{{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 }}</ref> | |||
== 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 = <!-- none available --> | url = http://www.columbia.edu/itc/biology/pollack/w4065/client_edit/readings/nature377_3.pdf | format = 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 = }} | |||
* {{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 = }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
* {{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 }} | |||
{{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}} | |||
{{Portal bar|Molecular and Cellular Biology|border=no}} | |||
[[Category:EC 2.7.11]] |
Latest revision as of 22:40, 5 September 2018
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Aliases | |||||||
External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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Ribosomal protein S6 kinase, 90kDa, polypeptide 3, also known as RPS6KA3, is an enzyme that in humans is encoded by the RPS6KA3 gene.[1][2]
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.[1]
Clinical significance
Mutations in this gene have been associated with Coffin–Lowry syndrome (CLS).[3]
Interactions
RPS6KA3 has been shown to interact with CREB-binding protein,[4] MAPK1[5][6] and PEA15.[7]
References
- ↑ 1.0 1.1 "Entrez Gene: RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3".
- ↑ 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.
- ↑ Jacquot S, Zeniou M, Touraine R, Hanauer A (January 2002). "X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)". European Journal of Human Genetics. 10 (1): 2–5. doi:10.1038/sj.ejhg.5200738. PMID 11896450.
- ↑ Merienne K, Pannetier S, Harel-Bellan A, Sassone-Corsi P (October 2001). "Mitogen-regulated RSK2-CBP interaction controls their kinase and acetylase activities". Molecular and Cellular Biology. 21 (20): 7089–96. doi:10.1128/MCB.21.20.7089-7096.2001. PMC 99884. PMID 11564891.
- ↑ Zhao Y, Bjorbaek C, Moller DE (November 1996). "Regulation and interaction of pp90(rsk) isoforms with mitogen-activated protein kinases". The Journal of Biological Chemistry. 271 (47): 29773–9. doi:10.1074/jbc.271.47.29773. PMID 8939914.
- ↑ 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.
- ↑ Vaidyanathan H, Ramos JW (August 2003). "RSK2 activity is regulated by its interaction with PEA-15". The Journal of Biological Chemistry. 278 (34): 32367–72. doi:10.1074/jbc.M303988200. PMID 12796492.
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. 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. 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. doi:10.1126/science.273.5277.959. PMID 8688081.
- 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. doi:10.1038/384567a0. PMID 8955270.
- 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.