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

Gene ID: 1027, updated on 10-Oct-2019

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

Genomic context

See CDKN1B in Genome Data Viewer
Location:
12p13.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (12717270..12722383)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12870302..12875305)

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
Multiple endocrine neoplasia, type 4
MedGen: C1970712 OMIM: 610755 GeneReviews: Not available
Compare labs

NHGRI 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.
NHGRI GWA Catalog

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 BioSystems

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  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
    Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by PTK6, organism-specific biosystem (from REACTOME)
    Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Small cell lung cancer, organism-specific biosystem (from KEGG)
    Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
  • Small cell lung cancer, conserved biosystem (from KEGG)
    Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
  • Switching of origins to a post-replicative state, organism-specific biosystem (from REACTOME)
    Switching of origins to a post-replicative state, organism-specific biosystem
    Switching of origins to a post-replicative state
  • Synthesis of DNA, organism-specific biosystem (from REACTOME)
    Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
  • TP53 Regulates Transcription of Cell Cycle Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Cycle Genes, organism-specific biosystemUnder a variety of stress conditions, TP53 (p53), stabilized by stress-induced phosphorylation at least on S15 and S20 serine residues, can induce the transcription of genes involved in cell cycle ar...
  • TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest, organism-specific biosystemThe most prominent TP53 target involved in G1 arrest is the inhibitor of cyclin-dependent kinases CDKN1A (p21). CDKN1A is one of the earliest genes induced by TP53 (El-Deiry et al. 1993). CDKN1A bind...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer
  • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional repression, organism-specific biosystem
    Validated targets of C-MYC transcriptional repression
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
    miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...
  • miRNAs involved in DNA damage response, organism-specific biosystem (from WikiPathways)
    miRNAs involved in DNA damage response, organism-specific biosystemMicroRNA clusters involved in de DNA damage response. Genes they regulated and genes that regulate them. All genes presented in this pathway can also be found in the pathway "DNA damage response(Homo...
  • p53-Dependent G1 DNA Damage Response, organism-specific biosystem (from REACTOME)
    p53-Dependent G1 DNA Damage Response, organism-specific biosystemMost of the damage-induced modifications of p53 are dependent on the ATM kinase. The first link between ATM and p53 was predicted based on the earlier studies that showed that AT cells exhibit a redu...
  • p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystemThe arrest at G1/S checkpoint is mediated by the action of a widely known tumor suppressor protein, p53. Loss of p53 functions, as a result of mutations in cancer prevent the G1/S checkpoint (Kuerbi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Hsp70 protein binding IEA
Inferred from Electronic Annotation
more info
 
chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cyclin binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cyclin-dependent protein serine/threonine kinase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor, cytoplasmic mediator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
Traceable Author Statement
more info
 
G1/S transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
autophagic cell death IDA
Inferred from Direct Assay
more info
PubMed 
cell cycle arrest IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
cellular response to lithium ion IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
mitotic cell cycle arrest ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cardiac muscle tissue regeneration ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cellular component movement IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cyclin-dependent protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial cell proliferation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of vascular smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
placenta development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle TAS
Traceable Author Statement
more info
 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of microtubule polymerization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cyclin-dependent protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
regulation of exit from mitosis IEA
Inferred from Electronic Annotation
more info
 
regulation of lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
response to amino acid IEA
Inferred from Electronic Annotation
more info
 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Cul4A-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_004064.4NP_004055.1  cyclin-dependent kinase inhibitor 1B

    See identical proteins and their annotated locations for NP_004055.1

    Status: REVIEWED

    Source sequence(s)
    AA833962, AK312461, BC001971, HY097069, HY246392
    Consensus CDS
    CCDS8653.1
    UniProtKB/Swiss-Prot
    P46527
    UniProtKB/TrEMBL
    Q6I9V6
    Related
    ENSP00000228872.4, ENST00000228872.9
    Conserved Domains (1) summary
    pfam02234
    Location:3175
    CDI; Cyclin-dependent kinase inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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
    12717270..12722383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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