Sequence in raw or FASTA format:
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) [Homo sapiens (human)]
|Entrez Gene ID||1028|
|Full Name||cyclin-dependent kinase inhibitor 1C (p57, Kip2)|
|Synonyms||BWCR, BWS, KIP2, WBS, p57, p57Kip2|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Beckwith-Wiedemann syndrome, 130650 (3)
|GO:0000079||regulation of cyclin-dependent protein serine/threonine kinase activity||TAS|
|GO:0000080||mitotic G1 phase||TAS|
|GO:0000122||negative regulation of transcription from RNA polymerase II promoter||IEA|
|GO:0007050||cell cycle arrest||IEA|
|GO:0008285||negative regulation of cell proliferation||TAS|
|GO:0030511||positive regulation of transforming growth factor beta receptor signaling pathway||IMP|
|GO:0033673||negative regulation of kinase activity||IDA|
|GO:0042326||negative regulation of phosphorylation||IDA|
|GO:0045892||negative regulation of transcription, DNA-templated||IDA|
|GO:0045893||positive regulation of transcription, DNA-templated||IGI|
|GO:0050680||negative regulation of epithelial cell proliferation||IMP|
|GO:0071901||negative regulation of protein serine/threonine kinase activity||IEA|
|GO:0071901||negative regulation of protein serine/threonine kinase activity||TAS|
|GO:0004861||cyclin-dependent protein serine/threonine kinase inhibitor activity||IEA|
What is the normal function of the CDKN1C gene?
The CDKN1C gene provides instructions for making a protein that helps regulate growth. This protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. It also is involved in controlling growth before birth, preventing the developing fetus from becoming too large.
People generally inherit one copy of a gene from their mother and one copy from their father. For most genes, both copies are fully turned on (active) in cells. The CDKN1C gene, however, is most active when it is inherited from a person's mother. The copy of CDKN1C inherited from a person's father is active at much lower levels in most tissues. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting. When genomic imprinting reduces the activity of the copy of a gene inherited from the father, that gene is said to be paternally imprinted.
CDKN1C is part of a cluster of genes on the short (p) arm of chromosome 11 that undergo genomic imprinting. A nearby region of DNA known as imprinting center 2 (ICR2) or KvDMR controls the parent-specific genomic imprinting of CDKN1C and several other genes thought to help regulate growth.
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