InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CDKN1C

Summary

InnateDB Protein

IDBP-362153.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CDKN1C

Protein Name

cyclin-dependent kinase inhibitor 1C (p57, Kip2)

Synonyms

BWCR; BWS; KIP2; p57; p57Kip2; WBS;

Species

Homo sapiens

Ensembl Protein

ENSP00000411552

InnateDB Gene

IDBG-23324 (CDKN1C)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Nucleus {ECO:0000250}.

Disease Associations

Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A 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. {ECO:0000269PubMed:10424811}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]: A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. {ECO:0000269PubMed:22634751}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in CDKN1C are involved in tumor formation.

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. {ECO:0000269PubMed:22634751}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	23 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity
GO:0005515	protein binding

Biological Process

GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0000080	mitotic G1 phase
GO:0007050	cell cycle arrest
GO:0008285	negative regulation of cell proliferation
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway
GO:0033673	negative regulation of kinase activity
GO:0042326	negative regulation of phosphorylation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0050680	negative regulation of epithelial cell proliferation
GO:0071901	negative regulation of protein serine/threonine kinase activity