CDKN1C Lysate – Tissue Lysate

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

p57Kip2: 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. 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. Belongs to the CDI family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation; Inhibitor; Nuclear receptor co-regulator; Tumor suppressor

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: cytoplasm; nucleus

Molecular Function: cyclin-dependent protein kinase inhibitor activity; protein binding

Biological Process: negative regulation of kinase activity; camera-type eye development; adrenal gland development; multicellular organism growth; positive regulation of transcription, DNA-dependent; regulation of mitotic cell cycle; positive regulation of transforming growth factor beta receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; uterus development; neuron maturation; negative regulation of phosphorylation; myeloid cell differentiation; cell cycle arrest; negative regulation of transcription, DNA-dependent; kidney development; skeletal development; aging; negative regulation of epithelial cell proliferation

Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies; Beckwith-wiedemann Syndrome