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cyclin-dependent kinase inhibitor 1C; cyclin-dependent kinase inhibitor p57; p57KIP2 (CDKN1C KIP2)
Function:
- potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, & cyclin A-CDK2) &, to lesser extent, of the mitotic cyclin B-CDC2
- negative regulator of cell proliferation
- may play a role in maintenance of the non-proliferative state throughout life
Structure: belongs to the CDI family
Compartment: nucleus (putative)
Alternative splicing: named isoforms=2; long, short
Expression:
- expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas & testis
- high levels are seen in the placenta
- low levels are seen in the liver
Pathology:
- defects in CDKN1C are a cause of Beckwith-Wiedemann syndrome
- defects in CDKN1C are involved in tumor formation
Related
CDKN1C or p57KIP2 gene
p57 Ag in tissue
General
cyclin-dependent kinase inhibitor (CDKI, CDKN)
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 316 aa
MW = 32 kD
COMPARTMENT: cell nucleus
MOTIF: 9 X 4 AA repeats of P-A-P-A {156-213}
MOTIF: consensus repeat {156-159}
consensus repeat {160-163}
consensus repeat {180-183}
consensus repeat {184-187}
consensus repeat {188-191}
consensus repeat {198-201}
consensus repeat {202-205}
consensus repeat {206-209}
consensus repeat {210-213}
Ser phosphorylation site {S268}
nuclear translocation signal {278-281}
INHIBITS: protein kinase
Database Correlations
OMIM correlations
MORBIDMAP 600856
UniProt P49918
Pfam PF02234
Entrez Gene 1028
Kegg hsa:1028
References
- Entrez Gene :accession 1028
- UniProt :accession P49918
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CDKN1C