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 .

Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver.