Version 5.4
Homo sapiens Gene: CDKN1C
Summary
InnateDB Gene IDBG-23324.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CDKN1C
Gene Name cyclin-dependent kinase inhibitor 1C (p57, Kip2)
Synonyms BWCR; BWS; KIP2; p57; p57Kip2; WBS
Species Homo sapiens
Ensembl Gene ENSG00000129757
Encoded Proteins
IDBP-23326
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
IDBP-362146
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
IDBP-362148
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
IDBP-362153
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:2883213-2885881
Strand Reverse strand
Band p15.4
Transcripts
ENST00000380725 ENSP00000370101
ENST00000440480 ENSP00000411257
ENST00000414822 ENSP00000413720
ENST00000430149 ENSP00000411552
ENST00000471157
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:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001822 kidney development
GO:0001890 placenta development
GO:0007050 cell cycle arrest
GO:0007568 aging
GO:0008285 negative regulation of cell proliferation
GO:0030099 myeloid cell differentiation
GO:0030325 adrenal gland development
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0033673 negative regulation of kinase activity
GO:0035264 multicellular organism growth
GO:0042326 negative regulation of phosphorylation
GO:0042551 neuron maturation
GO:0043010 camera-type eye development
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:0055123 digestive system development
GO:0060065 uterus development
GO:0060669 embryonic placenta morphogenesis
GO:0071514 genetic imprinting
GO:0071901 negative regulation of protein serine/threonine kinase activity
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037664
View Gene Order
ENSBTAG00000031184
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04110
Cell cycle pathway
INOH
INOH website
Hedgehog signaling pathway pathway
PID NCI
Cross-References
SwissProt P49918
TrEMBL
UniProt Splice Variant
Entrez Gene 1028
UniGene Hs.106070 Hs.604233 Hs.727251
RefSeq NM_000076 XM_005252731 XM_006725125 NM_001122630 NM_001122631 XM_005252732 XM_006725126
HUGO HGNC:1786
OMIM 600856
CCDS CCDS7738 CCDS44519
HPRD 02913
IMGT
EMBL BC067842 D64137 U22398 U48869
GenPept AAA85095 AAB05896 AAH67842 BAA11014 BAA11015
RNA Seq Atlas 1028

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca