Recombinant Human Cyclin-dependent kinase inhibitor 1C (CDKN1C)

Uniprot Id

P49918

Target Species

Human

Target Name

CDKN1C

Target Full Name

Cyclin-dependent kinase inhibitor 1C

Target 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.

Target Involvement

Beckwith-Wiedemann syndrome (BWS); Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)

Target Subcellular Location

Nucleus.

Target Protein Families

CDI family

Target Tissue Specificity

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.

Target Synonyms

Beckwith Wiedemann syndrome; BWCR; BWS; CDKI; CDKN 1C; CDKN1C; CDN1C_HUMAN; Cyclin dependent kinase inhibitor 1C; Cyclin dependent kinase inhibitor p57; Cyclin-dependent kinase inhibitor 1C; Cyclin-dependent kinase inhibitor p57; KIP 2; KIP2; p57; p57 Kip 2; p57KIP2; WBS

Target Background

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.