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

Gene ID: 1027, updated on 9-May-2021

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
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
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Genomic context

See CDKN1B in Genome Data Viewer
Location:
12p13.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (12717368..12722369)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12870302..12875303)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984486 Neighboring gene ribosomal protein L21 pseudogene 136 Neighboring gene cAMP responsive element binding protein like 2 Neighboring gene G protein-coupled receptor 19 Neighboring gene uncharacterized LOC105369663 Neighboring gene uncharacterized LOC107984129 Neighboring gene apolipoprotein L domain containing 1 Neighboring gene microRNA 613

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
GeneReviews: Not available
Multiple endocrine neoplasia, type 4
MedGen: C1970712 OMIM: 610755 GeneReviews: Not available
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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

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Hsp70 protein binding IEA
Inferred from Electronic Annotation
more info
 
enables chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 serine/threonine kinase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
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 
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
PubMed 
involved_in G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
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
 
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 cytokine-mediated signaling pathway TAS
Traceable Author Statement
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 apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 cycle IMP
Inferred from Mutant Phenotype
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of cell population proliferation 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 cellular component movement IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 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
PubMed 
involved_in negative regulation of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated 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 placenta development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell cycle TAS
Traceable Author Statement
more info
 
involved_in positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity 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 cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of 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 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 drug 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 hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to peptide hormone 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
PubMed 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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.

Genomic

  1. NG_016341.1 RefSeqGene

    Range
    4903..10016
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004064.5NP_004055.1  cyclin-dependent kinase inhibitor 1B

    See identical proteins and their annotated locations for NP_004055.1

    Status: REVIEWED

    Source sequence(s)
    AC008115
    Consensus CDS
    CCDS8653.1
    UniProtKB/Swiss-Prot
    P46527
    UniProtKB/TrEMBL
    Q6I9V6
    Related
    ENSP00000228872.4, ENST00000228872.9
    Conserved Domains (1) summary
    pfam02234
    Location:3177
    CDI; Cyclin-dependent kinase inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    12717368..12722369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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