CDKN1C
Sign in to saveAlso known as BWCR, BWS, KIP2, WBS, p57, p57Kip2, cyclin-dependent kinase inhibitor 1C, cyclin dependent kinase inhibitor 1C
gene umano
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
Molecular function
cyclin-dependent protein serine/threonine kinase inhibitor activitycyclin-dependent protein serine/threonine kinase inhibitor activitycyclin-dependent protein serine/threonine kinase inhibitor activitycyclin-dependent protein serine/threonine kinase inhibitor activityprotein bindingprotein-containing complex bindingmolecular function inhibitor activity
Pathways
Cell cycle - Homo sapiens (human)Cell CycleDiseaseMitotic G1 phase and G1/S transitionCyclin D associated events in G1G1 PhaseCell Cycle, MitoticAberrant regulation of mitotic G1/S transition in cancer due to RB1 defectsDefective 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
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 133549
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1028
- chromosome
- human chromosome 11
- genomic start
- 2904443
- genomic end
- 2885775
- cytogenetic location
- 11p15.4
via Wikidata · CC0