Cyclin-dependent kinase inhibitor 1C

From Wikipedia, the free encyclopedia
  (Redirected from P57 (gene))
Jump to: navigation, search
Aliases CDKN1C, BWCR, BWS, KIP2, WBS, p57, p57Kip2, cyclin-dependent kinase inhibitor 1C
External IDs HomoloGene: 133549 GeneCards: 1028
RNA expression pattern
PBB GE CDKN1C 213182 x at tn.png

PBB GE CDKN1C 213348 at tn.png

PBB GE CDKN1C 216894 x at tn.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 11: 2.88 – 2.89 Mb n/a
PubMed search [1] n/a
View/Edit Human

Cyclin-dependent kinase inhibitor 1C (p57, Kip2), also known as CDKN1C, is protein which in humans is encoded by the CDKN1C imprinted gene.[2]


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.[2]

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.[3] 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.[4] 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).[5] Loss of p57 function is also implicated in complete hydatidiform moles.[6]


Cyclin-dependent kinase inhibitor 1C has been shown to interact with:


  1. ^ "Human PubMed Reference:". 
  2. ^ a b "Entrez Gene: CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ Riccio A, Cubellis MV (Jul 2012). "Gain of function in CDKN1C". Nature Genetics. 44 (7): 737–8. doi:10.1038/ng.2336. PMID 22735584. 
  6. ^ 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. 
  7. ^ 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. 
  8. ^ 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. 
  9. ^ 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. 
  10. ^ 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 19016free to read. PMID 9465025. 

Further reading[edit]

External links[edit]