Contents 1 Function 2 Clinical significance 3 Interactions 4 References 5 Further reading 6 External links


Function[edit] Cyclin-dependent kinase inhibitor 1C is a tight-binding inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor candidate.[3] CDKN1C is a tumor suppressor human gene on chromosome 11 (11p15) and belongs to the cip/kip gene family. It encodes a cell cycle inhibitor that binds to G1 cyclin-CDK complexes.[4] Thus p57KIP2 causes arrest of the cell cycle in G1 phase.


Clinical significance[edit] A mutation of this gene may lead to loss of control over the cell cycle leading to uncontrolled cellular proliferation. p57KIP2 has been associated with Beckwith-Wiedemann syndrome (BWS) which is characterized by increased risk of tumor formation in childhood.[5] Loss-of-function mutations in this gene have also been shown associated to the IMAGe syndrome (Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies).[6] Complete hydatidiform moles consist only of paternal DNA, and thus the cells lack p57 expression as the gene is paternally imprinted (silenced). Immuohistochemical stains for p57 can aid with the diagnosis of hydatidiform moles [7]


Interactions[edit] Cyclin-dependent kinase inhibitor 1C has been shown to interact with: LIMK1,[8] MYBL2,[9] MyoD,[10] and PCNA.[11]


References[edit] ^ a b c ENSG00000129757 GRCh38: Ensembl release 89: ENSG00000273707, ENSG00000129757 - Ensembl, May 2017 ^ "Human PubMed Reference:".  ^ a b "Entrez Gene: CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)".  ^ Matsuoka S, Edwards MC, Bai C, Parker S, Zhang P, Baldini A, Harper JW, Elledge SJ (Mar 1995). "p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene". Genes & Development. 9 (6): 650–62. doi:10.1101/gad.9.6.650. PMID 7729684.  ^ Hatada I, Nabetani A, Morisaki H, Xin Z, Ohishi S, Tonoki H, Niikawa N, Inoue M, Komoto Y, Okada A, Steichen E, Ohashi H, Fukushima Y, Nakayama M, Mukai T (Oct 1997). "New p57KIP2 mutations in Beckwith-Wiedemann syndrome". Human Genetics. 100 (5-6): 681–3. doi:10.1007/s004390050573. PMID 9341892.  ^ Riccio A, Cubellis MV (Jul 2012). "Gain of function in CDKN1C". Nature Genetics. 44 (7): 737–8. doi:10.1038/ng.2336. PMID 22735584.  ^ LeGallo, Robin D.; Stelow, Edward B.; Ramirez, Nilsa C.; Atkins, Kristen A. (2008-05-01). "Diagnosis of hydatidiform moles using p57 immunohistochemistry and HER2 fluorescent in situ hybridization". American Journal of Clinical Pathology. 129 (5): 749–755. doi:10.1309/7XRL378C22W7APBT. ISSN 0002-9173. PMID 18426735.  ^ Yokoo T, Toyoshima H, Miura M, Wang Y, Iida KT, Suzuki H, Sone H, Shimano H, Gotoda T, Nishimori S, Tanaka K, Yamada N (Dec 2003). "p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleus". The Journal of Biological Chemistry. 278 (52): 52919–23. doi:10.1074/jbc.M309334200. PMID 14530263.  ^ Joaquin M, Watson RJ (Nov 2003). "The cell cycle-regulated B-Myb transcription factor overcomes cyclin-dependent kinase inhibitory activity of p57(KIP2) by interacting with its cyclin-binding domain". The Journal of Biological Chemistry. 278 (45): 44255–64. doi:10.1074/jbc.M308953200. PMID 12947099.  ^ Reynaud EG, Leibovitch MP, Tintignac LA, Pelpel K, Guillier M, Leibovitch SA (Jun 2000). "Stabilization of MyoD by direct binding to p57(Kip2)". The Journal of Biological Chemistry. 275 (25): 18767–76. doi:10.1074/jbc.M907412199. PMID 10764802.  ^ Watanabe H, Pan ZQ, Schreiber-Agus N, DePinho RA, Hurwitz J, Xiong Y (Feb 1998). "Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigen". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1392–7. doi:10.1073/pnas.95.4.1392. PMC 19016 . PMID 9465025. 


Further reading[edit] Seizinger BR (Dec 1991). "Genes associated with tumor suppression and growth control in the human nervous system". Cancer Metastasis Reviews. 10 (4): 281–7. doi:10.1007/BF00554790. PMID 1786629.  Lee MH, Reynisdóttir I, Massagué J (Mar 1995). "Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution". Genes & Development. 9 (6): 639–49. doi:10.1101/gad.9.6.639. PMID 7729683.  Matsuoka S, Edwards MC, Bai C, Parker S, Zhang P, Baldini A, Harper JW, Elledge SJ (Mar 1995). "p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene". Genes & Development. 9 (6): 650–62. doi:10.1101/gad.9.6.650. PMID 7729684.  Matsuoka S, Thompson JS, Edwards MC, Bartletta JM, Grundy P, Kalikin LM, Harper JW, Elledge SJ, Feinberg AP (Apr 1996). "Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15". Proceedings of the National Academy of Sciences of the United States of America. 93 (7): 3026–30. doi:10.1073/pnas.93.7.3026. PMC 39755 . PMID 8610162.  Reid LH, Crider-Miller SJ, West A, Lee MH, Massagué J, Weissman BE (Mar 1996). "Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay". Cancer Research. 56 (6): 1214–8. PMID 8640800.  Tokino T, Urano T, Furuhata T, Matsushima M, Miyatsu T, Sasaki S, Nakamura Y (May 1996). "Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis". Human Genetics. 97 (5): 625–31. doi:10.1007/BF02281873. PMID 8655143.  Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T (Oct 1996). "An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome". Nature Genetics. 14 (2): 171–3. doi:10.1038/ng1096-171. PMID 8841187.  Furuhata T, Tokino T, Urano T, Nakamura Y (Nov 1996). "Isolation of a novel GPI-anchored gene specifically regulated by p53; correlation between its expression and anti-cancer drug sensitivity". Oncogene. 13 (9): 1965–70. PMID 8934543.  LaBaer J, Garrett MD, Stevenson LF, Slingerland JM, Sandhu C, Chou HS, Fattaey A, Harlow E (Apr 1997). "New functional activities for the p21 family of CDK inhibitors". Genes & Development. 11 (7): 847–62. doi:10.1101/gad.11.7.847. PMID 9106657.  Watanabe H, Pan ZQ, Schreiber-Agus N, DePinho RA, Hurwitz J, Xiong Y (Feb 1998). "Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigen". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1392–7. doi:10.1073/pnas.95.4.1392. PMC 19016 . PMID 9465025.  Bhuiyan ZA, Yatsuki H, Sasaguri T, Joh K, Soejima H, Zhu X, Hatada I, Morisaki H, Morisaki T, Mukai T (Mar 1999). "Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome". Human Genetics. 104 (3): 205–10. doi:10.1007/s004390050937. PMID 10323243.  Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER (Jul 1999). "Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation". Journal of Medical Genetics. 36 (7): 518–23. doi:10.1136/jmg.36.7.518. PMC 1734395 . PMID 10424811.  Reynaud EG, Leibovitch MP, Tintignac LA, Pelpel K, Guillier M, Leibovitch SA (Jun 2000). "Stabilization of MyoD by direct binding to p57(Kip2)". The Journal of Biological Chemistry. 275 (25): 18767–76. doi:10.1074/jbc.M907412199. PMID 10764802.  Fink JR, LeBien TW (Apr 2001). "Novel expression of cyclin-dependent kinase inhibitors in human B-cell precursors". Experimental Hematology. 29 (4): 490–8. doi:10.1016/S0301-472X(01)00619-1. PMID 11301189.  Kido K, Doerks A, Lochelt M, Flügel RM (Apr 2002). "Identification and functional characterization of an intragenic DNA binding site for the spumaretroviral trans-activator in the human p57Kip2 gene". The Journal of Biological Chemistry. 277 (14): 12032–9. doi:10.1074/jbc.M108747200. PMID 11815601.  Balint E, Phillips AC, Kozlov S, Stewart CL, Vousden KH (Mar 2002). "Induction of p57(KIP2) expression by p73beta". Proceedings of the National Academy of Sciences of the United States of America. 99 (6): 3529–34. doi:10.1073/pnas.062491899. PMC 122557 . PMID 11891335.  Ito Y, Yoshida H, Nakano K, Kobayashi K, Yokozawa T, Hirai K, Matsuzuka F, Matsuura N, Kuma K, Miyauchi A (Apr 2002). "Expression of p57/Kip2 protein in normal and neoplastic thyroid tissues". International Journal of Molecular Medicine. 9 (4): 373–6. doi:10.3892/ijmm.9.4.373. PMID 11891530.  Kikuchi T, Toyota M, Itoh F, Suzuki H, Obata T, Yamamoto H, Kakiuchi H, Kusano M, Issa JP, Tokino T, Imai K (Apr 2002). "Inactivation of p57KIP2 by regional promoter hypermethylation and histone deacetylation in human tumors". Oncogene. 21 (17): 2741–9. doi:10.1038/sj.onc.1205376. PMID 11965547.  Li Y, Nagai H, Ohno T, Yuge M, Hatano S, Ito E, Mori N, Saito H, Kinoshita T (Oct 2002). "Aberrant DNA methylation of p57(KIP2) gene in the promoter region in lymphoid malignancies of B-cell phenotype". Blood. 100 (7): 2572–7. doi:10.1182/blood-2001-11-0026. PMID 12239171. 


External links[edit] GeneReviews/NIH/NCBI/UW entry on Beckwith-Wiedemann Syndrome CDKN1C human gene location in the UCSC Genome Browser. CDKN1C human gene details in the UCSC Genome Browser. v t e Cell cycle proteins Cyclin A (A1, A2) B (B1, B2, B3) D (D1, D2, D3) E (E1, E2) CDK 1 2 3 4 5 6 7 8 9 10 CDK-activating kinase CDK inhibitor INK4a/ARF (p14arf/p16, p15, p18, p19) cip/kip (p21, p27, p57) P53 p63 p73 family p53 p63 p73 Other Cdc2 Cdc25 Cdc42 Cellular apoptosis susceptibility protein E2F Maturation promoting factor Wee Cullin (CUL7) Phases and checkpoints Interphase G1 phase S phase G2 phase M phase Mitosis (Preprophase Prophase Prometaphase Metaphase Anaphase Telophase) Cytokinesis Cell cycle checkpoints Restriction point Spindle checkpoint Postreplication checkpoint Other cellular phases Apoptosis G0 phase Meiosis v t e Neoplasm: Tumor suppressor genes/proteins and Oncogenes/Proto-oncogenes Ligand Growth factors ONCO c-Sis/PDGF HGF Receptor Wnt signaling pathway TSP CDH1 Hedgehog signaling pathway TSP PTCH1 TGF beta signaling pathway TSP TGF beta receptor 2 Receptor tyrosine kinase ONCO ErbB/c-ErbB HER2/neu Her 3 c-Met c-Ret JAK-STAT signaling pathway ONCO c-Kit Flt3 Intracellular signaling P+Ps Wnt signaling pathway ONCO Beta-catenin TSP APC TGF beta signaling pathway TSP SMAD2 SMAD4 Akt/PKB signaling pathway ONCO c-Akt TSP PTEN Hippo signaling pathway TSP Neurofibromin 2/Merlin MAPK/ERK pathway ONCO c-Ras HRAS c-Raf TSP Neurofibromin 1 Other/unknown ONCO c-Src TSP Maspin Nucleus Cell cycle ONCO CDK4 Cyclin D Cyclin E TSP p53 pRb WT1 p16/p14arf DNA repair/Fanconi TSP BRCA1 BRCA2 Ubiquitin ligase ONCO CBL MDM2 TSP VHL Transcription factor ONCO AP-1 c-Fos c-Jun c-Myc TSP KLF6 Mitochondrion Apoptosis inhibitor SDHB SDHD Other/ungrouped c-Bcl-2 Notch Stathmin Retrieved from "https://en.wikipedia.org/w/index.php?title=Cyclin-dependent_kinase_inhibitor_1C&oldid=798050192" Categories: Genes on human chromosome 11Cell cycleHuman genesTumor suppressor genes


Navigation menu Personal tools Not logged inTalkContributionsCreate accountLog in Namespaces ArticleTalk Variants Views ReadEditView history More Search Navigation Main pageContentsFeatured contentCurrent eventsRandom articleDonate to WikipediaWikipedia store Interaction HelpAbout WikipediaCommunity portalRecent changesContact page Tools What links hereRelated changesUpload fileSpecial pagesPermanent linkPage informationWikidata itemCite this page Print/export Create a bookDownload as PDFPrintable version Languages Українська Edit links This page was last edited on 30 August 2017, at 17:59. Text is available under the Creative Commons Attribution-ShareAlike License; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization. Privacy policy About Wikipedia Disclaimers Contact Wikipedia Developers Cookie statement Mobile view (window.RLQ=window.RLQ||[]).push(function(){mw.config.set({"wgPageParseReport":{"limitreport":{"cputime":"0.556","walltime":"0.642","ppvisitednodes":{"value":1794,"limit":1000000},"ppgeneratednodes":{"value":0,"limit":1500000},"postexpandincludesize":{"value":202526,"limit":2097152},"templateargumentsize":{"value":139,"limit":2097152},"expansiondepth":{"value":7,"limit":40},"expensivefunctioncount":{"value":19,"limit":500},"entityaccesscount":{"value":20,"limit":400},"timingprofile":["100.00% 551.269 1 -total"," 46.59% 256.817 1 Template:Infobox_gene"," 32.25% 177.805 27 Template:Cite_journal"," 21.24% 117.079 24 Template:Navbox"," 16.08% 88.658 1 Template:Reflist"," 8.53% 47.003 1 Template:Tumor_suppressor_genes"," 2.43% 13.397 1 Template:Cell_cycle_proteins"," 1.08% 5.974 1 Template:Cite_web"," 0.78% 4.291 1 Template:Refbegin"," 0.38% 2.069 1 Template:Main_other"]},"scribunto":{"limitreport-timeusage":{"value":"0.401","limit":"10.000"},"limitreport-memusage":{"value":6723143,"limit":52428800}},"cachereport":{"origin":"mw1300","timestamp":"20180116041415","ttl":1900800,"transientcontent":false}}});});(window.RLQ=window.RLQ||[]).push(function(){mw.config.set({"wgBackendResponseTime":77,"wgHostname":"mw1219"});});


Cyclin-dependent_kinase_inhibitor_1C - Photos and All Basic Informations

Cyclin-dependent_kinase_inhibitor_1C More Links

Gene NomenclatureHomoloGeneGeneCardsChromosome 11 (human)ChromosomeChromosome 11 (human)Chromosome 11 (human)Genomic Location For CDKN1CGenomic Location For CDKN1CLocus (genetics)Base PairBase PairGene ExpressionGene OntologyEntrezEnsemblUniProtPubMedWikidataProteinGenomic ImprintingGeneBeckwith-Wiedemann SyndromeTumor SuppressorGeneChromosome 11Cell CycleCyclin-CDKG1 PhaseMutationBeckwith-Wiedemann SyndromeProtein-protein InteractionLIMK1MYBL2MyoDPCNAEnsembl Genome Database ProjectDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierInternational Standard Serial NumberPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed CentralPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed CentralPubMed IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed CentralPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed CentralPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed CentralPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierDigital Object IdentifierPubMed IdentifierUCSC Genome BrowserUCSC Genome BrowserTemplate:Cell Cycle ProteinsTemplate Talk:Cell Cycle ProteinsCell CycleProteinCyclinCyclin ACyclin A1Cyclin A2Cyclin BCyclin B1Cyclin B2Cyclin DCyclin D1Cyclin D2Cyclin D3Cyclin ECyclin E1Cyclin E2Cyclin-dependent KinaseCyclin-dependent Kinase 1Cyclin-dependent Kinase 2Cyclin-dependent Kinase 3Cyclin-dependent Kinase 4Cyclin-dependent Kinase 5Cyclin-dependent Kinase 6Cyclin-dependent Kinase 7Cyclin-dependent Kinase 8Cyclin-dependent Kinase 9Cyclin-dependent Kinase 10CDK-activating KinaseCyclin-dependent Kinase Inhibitor ProteinCell CycleP14arfP16CDKN2BCDKN2CCDKN2DCell CycleP21CDKN1BP53 P63 P73 FamilyP53TP63P73Cdk1Cdc25CDC42Cellular Apoptosis Susceptibility ProteinE2FMaturation Promoting FactorWee1CullinCUL7InterphaseG1 PhaseS PhaseG2 PhaseCell DivisionMitosisPreprophaseProphasePrometaphaseMetaphaseAnaphaseTelophaseCytokinesisCell Cycle CheckpointRestriction PointSpindle CheckpointPostreplication CheckpointApoptosisG0 PhaseMeiosisTemplate:Tumor Suppressor Genes And OncogenesTemplate Talk:Tumor Suppressor Genes And OncogenesNeoplasmTumor Suppressor GeneOncogeneLigand (biochemistry)Growth FactorPlatelet-derived Growth FactorHepatocyte Growth FactorReceptor (biochemistry)Wnt Signaling PathwayCDH1 (gene)Hedgehog Signaling PathwayPTCH1TGF Beta Signaling PathwayTGF Beta Receptor 2Receptor Tyrosine KinaseErbBEpidermal Growth Factor ReceptorHER2/neuERBB3C-MetRET Proto-oncogeneJAK-STAT Signaling PathwayCD117CD135Intracellular Signaling Peptides And ProteinsWnt Signaling PathwayBeta-cateninAdenomatosis Polyposis ColiTGF Beta Signaling PathwayMothers Against Decapentaplegic Homolog 2Mothers Against Decapentaplegic Homolog 4Akt/PKB Signaling PathwayAKTPTEN (gene)Hippo Signaling PathwayMerlin (protein)MAPK/ERK PathwayRas (protein)HRASC-RafNeurofibromin 1Proto-oncogene Tyrosine-protein Kinase SrcMaspinCell NucleusCell CycleCyclin-dependent Kinase 4Cyclin DCyclin EP53Retinoblastoma ProteinWT1P16 (gene)P14arfDNA RepairFanconi AnemiaBRCA1BRCA2Ubiquitin LigaseCBL (gene)Mdm2Von Hippel–Lindau Tumor SuppressorTranscription FactorAP-1 Transcription FactorC-FosC-junMycKLF6MitochondrionInhibitor Of ApoptosisSDHBSDHDBcl-2Notch SignalingStathminHelp:CategoryCategory:Genes On Human Chromosome 11Category:Cell CycleCategory:Human GenesCategory:Tumor Suppressor GenesDiscussion About Edits From This IP Address [n]A List Of Edits Made From This IP Address [y]View The Content Page [c]Discussion About The Content Page [t]Edit This Page [e]Visit The Main Page [z]Guides To Browsing WikipediaFeatured Content – The Best Of WikipediaFind Background Information On Current EventsLoad A Random Article [x]Guidance On How To Use And Edit WikipediaFind Out About WikipediaAbout The Project, What You Can Do, Where To Find ThingsA List Of Recent Changes In The Wiki [r]List Of All English Wikipedia Pages Containing Links To This Page [j]Recent Changes In Pages Linked From This Page [k]Upload Files [u]A List Of All Special Pages [q]Wikipedia:AboutWikipedia:General Disclaimer



view link view link view link view link view link