호모사피엔스 종의 단백질 코딩 유전자
RPS6KA3 식별자 별칭 RPS6KA3 외부 ID OMIM : 300075 MGI : 104557 HomoloGene : 37940 GeneCard : RPS6KA3 직교체 종 인간 마우스 엔트레스 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 위치(UCSC) Cr X: 20.15 – 20.27Mb Cr X: 157.99 – 158.15Mb PubMed 검색[3] [4] 위키다타
단백질 S6키나아제, 90kDa, 폴리펩타이드 3 , 또한 RPS6KA3 은 인간에서 RPS6KA3 유전자 에 의해 인코딩되는 효소 다.[5] [6]
함수 이 유전자는 세린/ 트레오닌 키나아제 의 RSK(리보솜 S6 kinase ) 계열의 구성원을 인코딩한다. 이 키나아제는 2개의 비식별 키나아제 촉매 도메인을 포함하고 있으며, MAPK(mitgen-activated kinase) 신호 경로 의 멤버를 포함한 다양한 기판을 포함 한다. 이 단백질의 활동은 세포 성장과 분화를 조절하는 데 관여되어 왔다.[5]
임상적 유의성 이 유전자의 돌연변이는 코브 와 관련이 있다. 로우리 증후군 ([7]
상호작용 RPS6KA3는 CREB 결합 단백질 인 [8] MAPK1 [9] [10] PEA15 와 상호작용 하는 것으로 나타났다.[11]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000177189 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000031309 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "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 .
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"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" . 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