• Gene id: 1027

Gene Summary

• Gene Symbol: CDKN1B   Gene   UCSC   Ensembl
• Aliases: CDKN4, KIP1, MEN1B, MEN4, P27KIP1
• Gene name: cyclin dependent kinase inhibitor 1B
• Alternate names: cyclin-dependent kinase inhibitor 1B, cyclin-dependent kinase inhibitor 1B (p27, Kip1),
• Gene location: 12p13.1 (12717367: 12722368)     Exons: 3     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 600778

SNPs

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

Protein Summary

• Protein general information: P46527  
  • Name: Cyclin dependent kinase inhibitor 1B (Cyclin dependent kinase inhibitor p27) (p27Kip1)
  • Length: 198  
  • Mass: 22073
  • Tissue specificity: Expressed in all tissues tested. Highest levels in skeletal muscle, lowest in liver and kidney.
• Sequence:

  MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYE
  WQEVEKGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAG
  IRKRPATDDSSTQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT

• Structural information:
  • Interpro: IPR003175  IPR029843  
  • PDB: 1H27 1JSU 2AST 5UQ3 6ATH 6P8E 6P8F 6P8G
  • PDBsum: 1H27 1JSU 2AST 5UQ3 6ATH 6P8E 6P8F 6P8G
  • DIP: 33341
  • STRING: ENSP00000228872
• Other Databases: GeneCards:  CDKN1B  Malacards:  CDKN1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007050	cell cycle arrest	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0042326	negative regulation of phosphorylation	IBA	biological process
GO:0008285	negative regulation of cell population proliferation	IBA	biological process
GO:0007050	cell cycle arrest	IBA	biological process
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA	molecular function
GO:0000082	G1/S transition of mitotic cell cycle	IBA	biological process
GO:0051087	chaperone binding	IBA	molecular function
GO:0045930	negative regulation of mitotic cell cycle	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA	molecular function
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA	molecular function
GO:0007050	cell cycle arrest	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0004860	protein kinase inhibitor activity	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0071285	cellular response to lithium ion	IDA	biological process
GO:0045732	positive regulation of protein catabolic process	IDA	biological process
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0045787	positive regulation of cell cycle	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905179	negative regulation of cardiac muscle tissue regeneration	IEA	biological process
GO:1902746	regulation of lens fiber cell differentiation	IEA	biological process
GO:0071850	mitotic cell cycle arrest	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071236	cellular response to antibiotic	IEA	biological process
GO:0051271	negative regulation of cellular component movement	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0030332	cyclin binding	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051087	chaperone binding	IEA	molecular function
GO:0045737	positive regulation of cyclin-dependent protein serine/threonine kinase activity	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043434	response to peptide hormone	IEA	biological process
GO:0043200	response to amino acid	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0030544	Hsp70 protein binding	IEA	molecular function
GO:0008219	cell death	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0060770	negative regulation of epithelial cell proliferation involved in prostate gland development	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0031116	positive regulation of microtubule polymerization	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007096	regulation of exit from mitosis	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA	molecular function
GO:0001890	placenta development	IEA	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IEA	biological process
GO:0046686	response to cadmium ion	IEA	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032355	response to estradiol	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0030332	cyclin binding	ISS	molecular function
GO:0007507	heart development	ISS	biological process
GO:0071850	mitotic cell cycle arrest	ISS	biological process
GO:1905179	negative regulation of cardiac muscle tissue regeneration	ISS	biological process
GO:1904706	negative regulation of vascular smooth muscle cell proliferation	IMP	biological process
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0000082	G1/S transition of mitotic cell cycle	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0048102	autophagic cell death	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA	molecular function
GO:1902806	regulation of cell cycle G1/S phase transition	IMP	biological process
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:1904030	negative regulation of cyclin-dependent protein kinase activity	IMP	biological process
GO:0004860	protein kinase inhibitor activity	IMP	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030332	cyclin binding	IPI	molecular function
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0071850	mitotic cell cycle arrest	IDA	biological process
GO:0045786	negative regulation of cell cycle	IMP	biological process
GO:0045930	negative regulation of mitotic cell cycle	IDA	biological process
GO:0033673	negative regulation of kinase activity	IDA	biological process
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa05202	Transcriptional misregulation in cancer
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa04110	Cell cycle
hsa04068	FoxO signaling pathway
hsa05162	Measles
hsa04066	HIF-1 signaling pathway
hsa05222	Small cell lung cancer
hsa04012	ErbB signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa01522	Endocrine resistance
hsa05220	Chronic myeloid leukemia
hsa05215	Prostate cancer

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Gastric cancer	KEGG:H00018
Prostate cancer	KEGG:H00024
Pituitary adenomas	KEGG:H01102
Multiple endocrine neoplasia syndrome	KEGG:H00247
Cushing syndrome	KEGG:H01431
Gastric cancer	KEGG:H00018
Prostate cancer	KEGG:H00024
Pituitary adenomas	KEGG:H01102
Multiple endocrine neoplasia syndrome	KEGG:H00247
Myelodysplastic syndrome	PMID:9171997
urinary bladder cancer	PMID:18334837
Breast cancer	PMID:12244302
Breast cancer	PMID:18030569
Breast cancer	PMID:18174243
nephroblastoma	PMID:14760081
Transitional cell carcinoma	PMID:10886076
lung non-small cell carcinoma	PMID:9500468
Macular degeneration	PMID:20054800
renal cell carcinoma	PMID:18425369
renal cell carcinoma	PMID:18495610
renal cell carcinoma	PMID:17924468
lung small cell carcinoma	PMID:9500468
chronic myeloid leukemia	PMID:20200561
prostate carcinoma in situ	PMID:18691549
cervix uteri carcinoma in situ	PMID:18301453
acute myeloid leukemia	PMID:9171997
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R