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GeneQ17860467· pop 5· linked from 92 articles

CDKN1C

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Also known as BWCR, BWS, KIP2, WBS, p57, p57Kip2, cyclin-dependent kinase inhibitor 1C, cyclin dependent kinase inhibitor 1C

protein-coding gene in the species Homo sapiens

Gene data

CDKN1C

Name: cyclin dependent kinase inhibitor 1C
Type: protein-coding
Position: 2,883,213–2,885,775 (−)
Aliases: BWCR, BWS, KIP2, WBS, p57, p57Kip2
Ensembl: ENSG00000129757
RefSeq RNA: NM_000076.2, NM_001122630.2, NM_001122631.2, NM_001362474.2, NM_001362475.2
RefSeq protein: NP_000067.1, NP_001116102.1, NP_001116103.1, NP_001349403.1, NP_001349404.1

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 Ontology

Biological process

positive regulation of transforming growth factor beta receptor signaling pathway negative regulation of epithelial cell proliferation regulation of cell cycle negative regulation of G1/S transition of mitotic cell cycle

Molecular function

cyclin-dependent protein serine/threonine kinase inhibitor activity cyclin-dependent protein serine/threonine kinase inhibitor activity cyclin-dependent protein serine/threonine kinase inhibitor activity cyclin-dependent protein serine/threonine kinase inhibitor activity protein binding protein-containing complex binding molecular function inhibitor activity

Cellular component

nucleus nucleus nucleus cytoplasm cytoplasm

Pathways

Cell cycle - Homo sapiens (human)Cell Cycle Disease Mitotic G1 phase and G1/S transition Cyclin D associated events in G1 G1 Phase Cell Cycle, Mitotic Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)Diseases of mitotic cell cycle

via MyGene.info

Gene · Ensembl

cyclin dependent kinase inhibitor 1C

Symbol: CDKN1C
Biotype: Protein coding
Organism: Homo sapiens
Location: Chr HSCHR11_1_CTG7:115,392-118,091
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

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