CDKN1C Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CDKN1C |
| Official Name | cyclin dependent kinase inhibitor 1C [Source:HGNC Symbol;Acc:HGNC:1786] |
| Ensembl ID | ENSG00000129757 |
| Bio databases IDs | |
| Aliases | cyclin dependent kinase inhibitor 1C |
| Synonyms | BWCR, BWS, CDK1C, CDKI, CDK INHIBITOR 1C, cyclin-dependent kinase inhibitor 1C, IMAGE, KIP2, p57, p57KIP2, p57(kip2), WBS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CDKN1C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- QT domain
- PCNA binding domain
- 3-10 helix
- Cki domain
- protein kinase inhibitor activity
- alpha helix
- cdk phosphorylation site
- protein binding
- acidic domain
- proline rich domain
- cyclin-dependent kinase binding domain
- cyclin-CDK binding domain
- binding protein
- cyclin-binding domain
- Cyclin-dependent kinase inhibitor
Pathways
Biological processes and signaling networks where the CDKN1C gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- thrombocytopenia
- psoriasis
- epithelial cancer
- epithelial neoplasia
- cancer
- liver neoplasia
- liver cancer
- digestive system cancer
- abdominal cancer
role in cell
- apoptosis
- phosphorylation in
- binding in
- expression in
- proliferation
- quantity
- cell viability
- survival
- accumulation
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CDKN1C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- negative regulation of epithelial cell proliferation
- negative regulation of mitotic cell cycle
- negative regulation of kinase activity
- negative regulation of cyclin-dependent protein kinase activity
- negative regulation of phosphorylation
- positive regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- cyclin-dependent protein kinase inhibitor activity
- protein kinase inhibitor activity