Version: 8.0.0Date: Tue Jan 28 2025
Gene
CDKN1A
- Species
- Homo sapiens
- Symbol
- CDKN1A
- Name
- cyclin dependent kinase inhibitor 1A
- Synonyms
- CAP20
- CDK-interacting protein 1
- Biotype
- protein coding gene
- Automated Description
- Enables enzyme binding activity; protein kinase regulator activity; and protein sequestering activity. Involved in several processes, including cellular response to cell-matrix adhesion; intracellular signal transduction; and negative regulation of macromolecule metabolic process. Acts upstream of or within negative regulation of G1/S transition of mitotic cell cycle and positive regulation of protein kinase activity. Located in nuclear body and nucleolus. Part of PCNA-p21 complex and cyclin-dependent protein kinase holoenzyme complex. Implicated in high grade glioma; ocular hypertension; oral mucosa leukoplakia; oral squamous cell carcinoma; and primary open angle glaucoma. Biomarker of several diseases, including Barrett's esophagus; Fuchs' endothelial dystrophy; autoimmune disease (multiple); carcinoma (multiple); and papilloma (multiple).
- RGD Description
- This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46778
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr6:36676460...36687397 + (10.94 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.