CDKN1B cyclin dependent kinase inhibitor 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDKN1Bprovided by HGNC
Official Full Name: cyclin dependent kinase inhibitor 1Bprovided by HGNC
Primary source: HGNC:HGNC:1785
See related: Ensembl:ENSG00000111276 MIM:600778; AllianceGenome:HGNC:1785
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KIP1; MEN4; CDKN4; MEN1B; P27KIP1
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 progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
Expression: Ubiquitous expression in fat (RPKM 40.2), ovary (RPKM 35.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (12717368..12722369)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (12590905..12595906)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (12870302..12875303)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The E3 ligase SMURF1 stabilizes p27 via UbcH7 catalyzed K29-linked ubiquitin chains to promote cell migration SMURF1-UbcH7 K29 ubiquitination of p27 and cell migration.
Title: The E3 ligase SMURF1 stabilizes p27 via UbcH7 catalyzed K29-linked ubiquitin chains to promote cell migration SMURF1-UbcH7 K29 ubiquitination of p27 and cell migration.
UBE4B regulates p27 expression in A549 NSCLC cells through regulating the interaction of HuR and the p27 5' UTR.
Title: UBE4B regulates p27 expression in A549 NSCLC cells through regulating the interaction of HuR and the p27 5' UTR.
MicroRNA-221-3p promotes post-burn HUVEC proliferation, migration, and angiogenesis by regulating CDKN1B.
Title: MicroRNA-221-3p promotes post-burn HUVEC proliferation, migration, and angiogenesis by regulating CDKN1B.
Large HBV Surface Protein-Induced Unfolded Protein Response Dynamically Regulates p27 Degradation in Hepatocellular Carcinoma Progression.
Title: Large HBV Surface Protein-Induced Unfolded Protein Response Dynamically Regulates p27 Degradation in Hepatocellular Carcinoma Progression.
Knockdown of UBE2I inhibits tumorigenesis and enhances chemosensitivity of cholangiocarcinoma via modulating p27kip1 nuclear export.
Title: Knockdown of UBE2I inhibits tumorigenesis and enhances chemosensitivity of cholangiocarcinoma via modulating p27kip1 nuclear export.
PRMT6-CDC20 facilitates glioblastoma progression via the degradation of CDKN1B.
Title: PRMT6-CDC20 facilitates glioblastoma progression via the degradation of CDKN1B.
Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
Title: Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
LncRNA LIMp27 Regulates the DNA Damage Response through p27 in p53-Defective Cancer Cells.
Title: LncRNA LIMp27 Regulates the DNA Damage Response through p27 in p53-Defective Cancer Cells.
Germline CDKN1B variant type and site are associated with phenotype in MEN4.
Title: Germline CDKN1B variant type and site are associated with phenotype in MEN4.
RNF4 promotes tumorigenesis, therapy resistance of cholangiocarcinoma and affects cell cycle by regulating the ubiquitination degradation of p27kip1 in the nucleus.
Title: RNF4 promotes tumorigenesis, therapy resistance of cholangiocarcinoma and affects cell cycle by regulating the ubiquitination degradation of p27kip1 in the nucleus.

Submit: New GeneRIF Correction See all GeneRIFs (848)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Multiple endocrine neoplasia type 4 MedGen: C1970712 OMIM: 610755 GeneReviews: Multiple Endocrine Neoplasia Type 4	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-08) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 induces NF-kappaB activation and increases p21(cip1/waf1) and p27(kip1) protein levels in human mesangial cells	PubMed
Tat	tat	HIV-1 Tat relocalizes cyclin-dependent kinase inhibitor 1B (p27) from nuclear to cytoplasm in neuronal cells	PubMed
	tat	When expressed in astrocytes, neurons, and non-glial 293T cells, HIV-1 Tat interacts with a number of cell cycle-related proteins including cyclin A, cyclin B, cyclin D3, Cdk2, Cdk4, Cdk1/Cdc2, cdc6, p27, p53, p63, hdlg, and PCNA	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47169 (e-PCR)
- UniSTS:66315

RH47126 (e-PCR)
- UniSTS:66316

PMC337037P1 (e-PCR)
- UniSTS:273168

CDKN1B (e-PCR)
- UniSTS:266281

G67939 (e-PCR)
- UniSTS:225596

SHGC-132395 (e-PCR)
- UniSTS:170817

PMC86551P1 (e-PCR)
- UniSTS:273531

PMC317217P1 (e-PCR)
- UniSTS:273082

RH103911 (e-PCR)
- UniSTS:98236

RH69893 (e-PCR)
- UniSTS:42173

PMC307617P3 (e-PCR)
- UniSTS:272582

HUM0C12B05 (e-PCR)
- UniSTS:52189

AI843786 (e-PCR)
- UniSTS:164346

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp70 protein binding	IEA Inferred from Electronic Annotation more info
enables cyclin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cyclin binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables cyclin-dependent protein kinase activating kinase regulator activity	EXP Inferred from Experiment more info	PubMed
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	TAS Traceable Author Statement more info
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables molecular function inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin ligase activator activity	EXP Inferred from Experiment more info	PubMed
enables ubiquitin protein ligase binding	EXP Inferred from Experiment more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS Traceable Author Statement more info
involved_in G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in G1/S transition of mitotic cell cycle	TAS Traceable Author Statement more info
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in autophagic cell death	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to antibiotic	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to lithium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	TAS Traceable Author Statement more info
involved_in epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cardiac muscle tissue regeneration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cyclin-dependent protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear export	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA replication	TAS Traceable Author Statement more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of microtubule polymerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of cell cycle G1/S phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of exit from mitosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of lens fiber cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to amino acid	IEA Inferred from Electronic Annotation more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul4A-RING E3 ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cyclin-dependent kinase inhibitor 1B

Names: cyclin-dependent kinase inhibitor 1B (p27, Kip1)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.