ENSG00000124762


Homo sapiens

Features
Gene ID: ENSG00000124762
  
Biological name :CDKN1A
  
Synonyms : CDKN1A / cyclin dependent kinase inhibitor 1A / P38936
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.2
Gene start: 36676460
Gene end: 36687339
  
Corresponding Affymetrix probe sets: 202284_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000244741
Ensembl peptide - ENSP00000384849
Ensembl peptide - ENSP00000409259
Ensembl peptide - ENSP00000482768
Ensembl peptide - ENSP00000362815
NCBI entrez gene - 1026     See in Manteia.
OMIM - 116899
RefSeq - NM_001220777
RefSeq - NM_000389
RefSeq - NM_001220778
RefSeq - NM_001291549
RefSeq - NM_078467
RefSeq Peptide - NP_001207707
RefSeq Peptide - NP_000380
RefSeq Peptide - NP_001207706
RefSeq Peptide - NP_001278478
RefSeq Peptide - NP_510867
swissprot - P38936
swissprot - A0A024RCX5
Ensembl - ENSG00000124762
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cdkn1aENSDARG00000076554Danio rerio
 CDKN1AENSGALG00000028318Gallus gallus
 Cdkn1aENSMUSG00000023067Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CDKN1C / P49918 / cyclin dependent kinase inhibitor 1CENSG0000012975724
CDKN1B / P46527 / cyclin dependent kinase inhibitor 1BENSG0000011127623


Protein motifs (from Interpro)
Interpro ID Name
 IPR003175  Cyclin-dependent kinase inhibitor
 IPR029841  Cyclin-dependent kinase inhibitor 1, vertebrate


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity TAS
 biological_processGO:0000082 G1/S transition of mitotic cell cycle IDA
 biological_processGO:0000086 G2/M transition of mitotic cell cycle IMP
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IMP
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IDA
 biological_processGO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007050 cell cycle arrest IDA
 biological_processGO:0007265 Ras protein signal transduction IEP
 biological_processGO:0007346 regulation of mitotic cell cycle IEA
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0009411 response to UV IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010165 response to X-ray IEA
 biological_processGO:0010243 response to organonitrogen compound IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010942 positive regulation of cell death IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030308 negative regulation of cell growth IDA
 biological_processGO:0030890 positive regulation of B cell proliferation IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0031668 cellular response to extracellular stimulus IMP
 biological_processGO:0033158 regulation of protein import into nucleus, translocation IEA
 biological_processGO:0034198 cellular response to amino acid starvation IMP
 biological_processGO:0034605 cellular response to heat IEA
 biological_processGO:0042326 negative regulation of phosphorylation IDA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043068 positive regulation of programmed cell death IEA
 biological_processGO:0043491 protein kinase B signaling TAS
 biological_processGO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity IEA
 biological_processGO:0045860 positive regulation of protein kinase activity IDA
 biological_processGO:0046685 response to arsenic-containing substance IEA
 biological_processGO:0048146 positive regulation of fibroblast proliferation IMP
 biological_processGO:0050821 protein stabilization TAS
 biological_processGO:0051384 response to glucocorticoid IEA
 biological_processGO:0051412 response to corticosterone IEA
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0055093 response to hyperoxia IEA
 biological_processGO:0060574 intestinal epithelial cell maturation IEA
 biological_processGO:0071479 cellular response to ionizing radiation IMP
 biological_processGO:0071480 cellular response to gamma radiation IEA
 biological_processGO:0071493 cellular response to UV-B ISS
 biological_processGO:0071850 mitotic cell cycle arrest IEA
 biological_processGO:0072331 signal transduction by p53 class mediator IEA
 biological_processGO:0090398 cellular senescence IMP
 biological_processGO:0090399 replicative senescence IEA
 biological_processGO:0090400 stress-induced premature senescence TAS
 biological_processGO:0097193 intrinsic apoptotic signaling pathway TAS
 biological_processGO:1904030 negative regulation of cyclin-dependent protein kinase activity IMP
 biological_processGO:1904031 positive regulation of cyclin-dependent protein kinase activity IEA
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IGI
 biological_processGO:2000278 regulation of DNA biosynthetic process IEA
 biological_processGO:2000379 positive regulation of reactive oxygen species metabolic process IMP
 cellular_componentGO:0000307 cyclin-dependent protein kinase holoenzyme complex IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070557 PCNA-p21 complex IDA
 molecular_functionGO:0004693 cyclin-dependent protein serine/threonine kinase activity EXP
 molecular_functionGO:0004860 protein kinase inhibitor activity IMP
 molecular_functionGO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019912 cyclin-dependent protein kinase activating kinase activity IDA
 molecular_functionGO:0030332 cyclin binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0044877 protein-containing complex binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000825 Hyperinsulinemic hypoglycemia 
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 HP:0000843 Hyperparathyroidism 
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 HP:0000845 Acromegaly "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators]
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 HP:0000854 Thyroid adenoma 
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 HP:0001031 Subcutaneous lipomas 
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 HP:0002014 Diarrhea 
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 HP:0002044 Zollinger-Ellison syndrome 
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 HP:0002574 Episodic abdominal pain 
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 HP:0002897 Parathyroid adenoma 
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 HP:0003072 Hypercalcemia "A level of blood calcium that is higher than normal." [HPO:curators]
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 HP:0003118 Increased serum cortisol 
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 HP:0003165 Elevated serum parathyroid hormone (PTH) level 
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 HP:0004398 Peptic ulcer 
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 HP:0006744 Adrenocortical carcinoma 
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 HP:0006767 Prolactin-secreting pituitary adenoma 
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 HP:0007449 Confetti-like hypopigmented macules 
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 HP:0008208 Parathyroid hyperplasia "An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of all four parathyroid glands." [HPO:curators]
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 HP:0008256 Adrenocortical adenoma "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators]
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 HP:0008283 Hyperinsulinemia, fasting 
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 HP:0008291 ACTH-producing pituitary microadenomas "Presence of microadenomas that produce adrenocorticotropic hormone (ACTH) in the pituitary gland." [HPO:curators]
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 HP:0010615 Angiofibromas "Angiofibroma consist of many often dilated vessels." [HPO:curators]
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0011760 Pituitary growth hormone cell adenoma "A type of pituitary adenoma that produces grwoth hormone." [DDD:spark]
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 HP:0011761 Pituitary null cell adenoma "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [DDD:spark]
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 HP:0012030 Increased urinary cortisol level "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." [HPO:probinson]
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 HP:0012197 Insulinoma "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [HPO:probinson]
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 HP:0012334 Extrahepatic cholestasis "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson]
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 HP:0030404 Glucagonoma "An endocrine tumor of the pancreas that secretes excessive amounts of glucagon." [HPO:probinson]
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 HP:0030688 Increased glucagon level "An elevated concentration of glucagon in the blood circulation." []
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 HP:0100522 Thymoma "A tumor originating from the epithelial cells of the `thymus` (FMA:9607)." [HPO:sdoelken]
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 HP:0100570 Carcinoid "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin." [HPO:sdoelkens]
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 HP:0100633 Esophagitis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110092 CCND1 / P24385 / cyclin D1  / complex / reaction
 ENSG00000173207 CKS1B / P61024 / CDC28 protein kinase regulatory subunit 1B  / reaction / complex
 ENSG00000103479 RBL2 / Q08999 / RB transcriptional corepressor like 2  / reaction
 ENSG00000105173 CCNE1 / P24864 / cyclin E1  / complex
 ENSG00000205250 E2F4 / Q16254 / E2F transcription factor 4  / reaction
 ENSG00000055130 CUL1 / Q13616 / cullin 1  / complex / reaction
 ENSG00000113558 SKP1 / P63208 / S-phase kinase associated protein 1  / reaction / complex
 ENSG00000133740 E2F5 / Q15329 / E2F transcription factor 5  / reaction
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / reaction / complex
 ENSG00000204315 FKBPL / Q9UIM3 / FK506 binding protein like  / complex / reaction
 ENSG00000145604 SKP2 / Q13309 / S-phase kinase associated protein 2  / complex / reaction
 ENSG00000080839 RBL1 / P28749 / RB transcriptional corepressor like 1  / reaction
 ENSG00000096384 P08238 / HSP90AB1 / heat shock protein 90 alpha family class B member 1  / reaction / complex
 ENSG00000123374 CDK2 / P24941 / cyclin dependent kinase 2  / complex / reaction
 ENSG00000175305 CCNE2 / O96020 / cyclin E2  / complex
 ENSG00000139687 RB1 / P06400 / RB transcriptional corepressor 1  / reaction
 ENSG00000198176 TFDP1 / Q14186 / transcription factor Dp-1  / reaction
 ENSG00000114126 TFDP2 / Q14188 / transcription factor Dp-2  / reaction
 ENSG00000134480 CCNH / P51946 / cyclin H  / reaction
 ENSG00000020426 MNAT1 / P51948 / MNAT1, CDK activating kinase assembly factor  / reaction
 ENSG00000105810 CDK6 / Q00534 / cyclin dependent kinase 6  / reaction / complex
 ENSG00000134058 CDK7 / P50613 / cyclin dependent kinase 7  / reaction
 ENSG00000135446 CDK4 / P11802 / cyclin dependent kinase 4  / reaction / complex
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction
 ENSG00000075218 GTSE1 / Q9NYZ3 / G2 and S-phase expressed 1  / reaction / complex






 

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