Gene Gene information from NCBI Gene database.
Entrez ID 1026
Gene name Cyclin dependent kinase inhibitor 1A
Gene symbol CDKN1A
Synonyms (NCBI Gene)
CAP20CDKN1CIP1MDA-6P21SDI1WAF1p21CIP1
Chromosome 6
Chromosome location 6p21.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
1286
miRTarBase ID miRNA Experiments Reference
MIRT000603 hsa-miR-106b-5p Luciferase reporter assay 18676839
MIRT000603 hsa-miR-106b-5p qRT-PCR 18676839
MIRT001223 hsa-miR-106a-5p qRT-PCRLuciferase reporter assayWestern blot 18212054
MIRT000600 hsa-miR-17-5p qRT-PCRLuciferase reporter assayWestern blot 18212054
MIRT000596 hsa-miR-20b-5p qRT-PCRLuciferase reporter assayWestern blot 18212054
Transcription factors Transcription factors information provided by TRRUST V2 database.
146
Transcription factor Regulation Reference
AATF Unknown 17157788
ABL1 Activation 11753601;9916993
AR Activation 10076995
AR Repression 16281084
ARID1A Unknown 21900401
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
116
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle TAS
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IBA
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IDA 17420273
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IEA
GO:0001701 Process In utero embryonic development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116899 1784 ENSG00000124762
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P38936
Protein name Cyclin-dependent kinase inhibitor 1 (CDK-interacting protein 1) (Melanoma differentiation-associated protein 6) (MDA-6) (p21)
Protein function 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 d
PDB 1AXC , 2ZVV , 2ZVW , 4RJF , 5E0U , 6CBI , 6CEJ , 6CIV , 6CIX , 6P8H , 7KQ0 , 7KQ1 , 8GJF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02234 CDI 20 68 Cyclin-dependent kinase inhibitor Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all adult tissues, with 5-fold lower levels observed in the brain.
Sequence
MSEPAGDVRQNPCGSKACRRLFGPVDSEQLSRDCDALMAGCIQEARERWNFDFVTETPLE
GDFAWERV
RGLGLPKLYLPTGPRRGRDELGGGRRPGTSPALLQGTAEEDHVDLSLSCTLV
PRSGEQAEGSPGGPGDSQGRKRRQTSMTDFYHSKRRLIFSKRKP
Sequence length 164
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
Platinum drug resistance
ErbB signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Cell cycle
p53 signaling pathway
PI3K-Akt signaling pathway
Cellular senescence
JAK-STAT signaling pathway
Oxytocin signaling pathway
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Basal cell carcinoma
Melanoma
Bladder cancer
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  SCF(Skp2)-mediated degradation of p27/p21
AKT phosphorylates targets in the cytosol
Senescence-Associated Secretory Phenotype (SASP)
DNA Damage/Telomere Stress Induced Senescence
Constitutive Signaling by AKT1 E17K in Cancer
Interleukin-4 and Interleukin-13 signaling
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
Cyclin E associated events during G1/S transition
Cyclin D associated events in G1
p53-Dependent G1 DNA Damage Response
Cyclin A:Cdk2-associated events at S phase entry
Transcriptional activation of cell cycle inhibitor p21
The role of GTSE1 in G2/M progression after G2 checkpoint
TFAP2 (AP-2) family regulates transcription of cell cycle factors
Transcriptional regulation by RUNX2
RUNX3 regulates CDKN1A transcription
Transcriptional regulation of granulopoiesis
FOXO-mediated transcription of cell cycle genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Malignant tumor of urinary bladder Pathogenic rs1407742055 RCV003332986
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Pathogenic rs1407742055 RCV006274418
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations