Gene Gene information from NCBI Gene database.
Entrez ID 1027
Gene name Cyclin dependent kinase inhibitor 1B
Gene symbol CDKN1B
Synonyms (NCBI Gene)
CDKN4KIP1MEN1BMEN4P27KIP1
Chromosome 12
Chromosome location 12p13.1
Summary This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle
miRNA miRNA information provided by mirtarbase database.
1094
miRTarBase ID miRNA Experiments Reference
MIRT000137 hsa-miR-221-3p Luciferase reporter assayWestern blot 17569667
MIRT000137 hsa-miR-221-3p Luciferase reporter assayWestern blot 17569667
MIRT000131 hsa-miR-222-3p Luciferase reporter assayWestern blot 17569667
MIRT000131 hsa-miR-222-3p Luciferase reporter assayWestern blot 17569667
MIRT000137 hsa-miR-221-3p Luciferase reporter assay 17914108
Transcription factors Transcription factors information provided by TRRUST V2 database.
28
Transcription factor Regulation Reference
BRCA1 Activation 18025037
BRCA1 Unknown 16331276
COPS5 Repression 16951171
CUX1 Unknown 19332113
ESR1 Repression 17681750
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
87
GO ID Ontology Definition Evidence Reference
GO:0000079 Process Regulation of cyclin-dependent protein serine/threonine kinase activity IDA 8033212
GO:0000082 Process G1/S transition of mitotic cell cycle IBA
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle TAS
GO:0001890 Process Placenta development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600778 1785 ENSG00000111276
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46527
Protein name Cyclin-dependent kinase inhibitor 1B (Cyclin-dependent kinase inhibitor p27) (p27Kip1)
Protein function Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA (PubMed:28666995). Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A
PDB 1H27 , 1JSU , 2AST , 5UQ3 , 6ATH , 6P8E , 6P8F , 6P8G , 7B5L , 7B5M , 7B5R , 7OR8 , 7ORG , 7ORH , 7ORS , 7ORT , 8BYA , 8BYL , 8BZO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02234 CDI 31 79 Cyclin-dependent kinase inhibitor Family
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney (at protein level) (PubMed:15509543). Expressed in all tissues tested (PubMed:8033212). Highest levels in skeletal muscle, lowest in liver and kidney (PubMed:8033212). {ECO:0000269|PubMed:15509543, ECO:0000269|PubMe
Sequence
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKW
NFDFQNHKPLEGKYEWQEV
EKGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIG
APANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDSSTQNKRANRTEENVSDGSPN
AGSVEQTPKKPGLRRRQT
Sequence length 198
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
ErbB signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Cell cycle
PI3K-Akt signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Cushing syndrome
Measles
Human papillomavirus infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
MicroRNAs in cancer
Prostate cancer
Chronic myeloid leukemia
Small cell lung cancer
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
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
PTK6 Regulates Cell Cycle
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1498
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDKN1B-related disorder Pathogenic rs1946491661 RCV003410348
Hereditary cancer-predisposing syndrome Pathogenic; Likely pathogenic rs1292160956, rs1946498768, rs1202861028, rs1328655695, rs2136355372, rs2136356377, rs797044482, rs2136356126, rs2497405244, rs786201011, rs2497404197, rs2136355715, rs2497404448, rs2497404536, rs2497405447
View all (18 more)
RCV002334840
RCV002331497
RCV002334968
RCV002324404
RCV002425256
RCV003167163
RCV005532586
RCV002322937
RCV002445698
RCV003298195
RCV002383282
RCV002410153
RCV002407853
RCV002417329
RCV003171500
RCV003171501
RCV003288458
RCV003377948
RCV003339038
RCV003341670
RCV005794574
RCV004950655
RCV004516436
RCV004516438
RCV004516445
RCV002420554
RCV002440313
RCV005318519
RCV000850057
RCV001013161
RCV001018678
RCV001019239
RCV002355015
RCV003166472
Lung cancer Pathogenic rs1946487230 RCV005912473
Multiple endocrine neoplasia type 4 Pathogenic; Likely pathogenic rs1292160956, rs2136355351, rs2136355500, rs2136355706, rs2136355743, rs2136355975, rs2136356368, rs1946498768, rs2136355920, rs1202861028, rs1328655695, rs2136355372, rs2136355734, rs2136356377, rs2136355842
View all (42 more)
RCV001922605
RCV001385780
RCV001381151
RCV001389331
RCV001380515
RCV001381038
RCV001385387
RCV001936607
RCV001905666
RCV001999865
RCV001970143
RCV001923787
RCV001994810
RCV001945040
RCV001935258
RCV001928007
RCV003775072
RCV003619764
RCV000162205
RCV000162209
RCV003097266
RCV005097767
RCV003115669
RCV002846739
RCV003015939
RCV000009371
RCV003322702
RCV003619836
RCV003475630
RCV003510619
RCV003509916
RCV003510530
RCV003510689
RCV003509410
RCV003510348
RCV003620831
RCV003621226
RCV003621456
RCV003619154
RCV003619275
RCV003620335
RCV003620325
RCV003821992
RCV004575547
RCV000464377
RCV000553157
RCV002530833
RCV000645520
RCV001873195
RCV000818835
RCV000792362
RCV000813928
RCV001052382
RCV003619735
RCV001809921
RCV001045998
RCV001058946
RCV001063239
RCV001218565
RCV001237128
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Conflicting classifications of pathogenicity rs868695692 RCV005603672
Familial cancer of breast - rs2136357231 RCV005916219
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia Uncertain significance rs188579132 RCV006443445
Gastric cancer Conflicting classifications of pathogenicity rs776643344 RCV005902011
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 22291433
Adenocarcinoma Associate 16731604, 18415709, 9927492
Adenocarcinoma Follicular Associate 16798934
Adenocarcinoma of Lung Associate 16551617, 22372491, 30375484
Adenoma Associate 34232602
Adenoma Inhibit 9033255, 9250163
Adenomatous Polyposis Coli Associate 15509520
Arthritis Rheumatoid Associate 21676922
Arthritis Rheumatoid Inhibit 22183962
Astrocytoma Associate 15367334, 18345413