CDKN1C

Cyclin-dependent kinase inhibitor 1C ;
Cyclin-dependent kinase inhibitor p57 ;
p57Kip2 ;

disease:Defects in CDKN1C are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele) , pre- and postnatal overgrowth , and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. ,disease:Defects in CDKN1C are involved in tumor formation. ,function:Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2 , cyclin D2-CDK4 , and cyclin A-CDK2) and , to lesser extent , of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life. ,similarity:Belongs to the CDI family. ,tissue specificity:Expressed in the heart , brain , lung , skeletal muscle , kidney , pancreas and testis. High levels are seen in the placenta while low levels are seen in the liver. ,

regulation of cyclin-dependent protein kinase activity , G1 phase of mitotic cell cycle , negative regulation of transcription from RNA polymerase II promoter , mitotic cell cycle , regulation of transcription , DNA-dependent ,regulation of transcription from RNA polymerase II promoter , cell cycle , cell cycle arrest , negative regulation of cell proliferation , negative regulation of biosynthetic process , positive regulation of signal transduction , negative regulation of macromolecule biosynthetic process , negative regulation of phosphorus metabolic process , negative regulation of macromolecule metabolic process , negative regulation of gene expression , positive regulation of cell communication , negative regulation of transcription , regulation of transforming growth factor beta receptor signaling pathway , regulation of phosphate metabolic process , developmental maturation , cell cycle process , cell cycle phase ,neuron differentiation , positive regulation of transforming growth factor beta receptor signaling pathway , negative regulation of cellular biosynthetic process , negative regulation of gene-specific transcription , regulation of gene-specific transcription , negative regulation of kinase activity , regulation of cell proliferation , regulation of phosphorylation , negative regulation of phosphorylation , neuron maturation , negative regulation of catalytic activity ,regulation of kinase activity , negative regulation of molecular function , regulation of transcription , regulation of protein kinase activity , negative regulation of transcription , DNA-dependent , negative regulation of nucleobase , nucleoside , nucleotide and nucleic acid metabolic process , negative regulation of phosphate metabolic process , cell maturation ,neuron development , regulation of epithelial cell proliferation , negative regulation of epithelial cell proliferation ,negative regulation of nitrogen compound metabolic process , regulation of phosphorus metabolic process , regulation of RNA metabolic process , negative regulation of RNA metabolic process , G1 phase , interphase , interphase of mitotic cell cycle , regulation of transferase activity , negative regulation of transferase activity , regulation of cell cycle ,

Nucleus .