Version: 8.0.0
Date: Tue Jan 28 2025
CDKN1B
Homo sapiensHGNC:1785
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CDKN1B

Species
Homo sapiens
Symbol
CDKN1B
Name
cyclin dependent kinase inhibitor 1B
Synonyms
  • CDKN4
  • cyclin-dependent kinase inhibitor 1B
Biotype
protein coding gene
Automated Description
Enables several functions, including cyclin binding activity; enzyme binding activity; and protein kinase regulator activity. Involved in several processes, including autophagic cell death; negative regulation of macromolecule metabolic process; and negative regulation of vascular associated smooth muscle cell proliferation. Acts upstream of or within cellular response to lithium ion and positive regulation of protein catabolic process. Located in cytoplasm and nucleoplasm. Part of Cul4A-RING E3 ubiquitin ligase complex. Implicated in acute myeloid leukemia; breast cancer; multiple endocrine neoplasia type 4; and myelodysplastic syndrome. Biomarker of several diseases, including cervix uteri carcinoma in situ; chronic myeloid leukemia; lung carcinoma (multiple); prostate carcinoma in situ; and urinary system cancer (multiple).
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10265
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          CDKN1B molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            CDKN1B role
            CDKN1B genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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