AlphaFold predicted structure
CDKN1A · P38936
Mean pLDDT
69.0/ 100
Low
164 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)17%
- Low(50–70)30%
- Very low(< 50)25%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CDKN1A
Chr 6p21.2cyclin dependent kinase inhibitor 1A
- Aliases:
- P21, CIP1, WAF1, SDI1, CAP20
- MANE:
- ENST00000244741.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
urinary bladder cancer
0.60neurodegenerative disease
0.58Alzheimer disease
0.55Parkinson disease
0.53atrial fibrillation
0.53lysosomal storage disease
0.53multiple sclerosis
0.53heart failure
0.52congestive heart failure
0.49hypertrophic cardiomyopathy
0.48
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cyclin-dependent kinase inhibitor 1
Plays an important role in controlling cell cycle progression and DNA damage-induced G2 arrest (PubMed:9106657). Involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Also involved in p53-independent DNA damage-induced G2 arrest mediated by CREB3L1 in astrocytes and osteoblasts (By similarity). Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D-CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 for PCNA binding (PubMed:11595739). Negatively regulates the CDK4- and CDK6-driven phosphorylation of RB1 in keratinocytes, thereby resulting in the release of E2F1 and subsequent transcription of E2F1-driven G1/S phase promoting genes (By similarity)
Diseases associated with CDKN1A
Curated MONDO disease pages that list CDKN1A among their top associated genes.