Version: 8.0.0
Date: Tue Jan 28 2025
HMGB1
Homo sapiensHGNC:4983
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

HMGB1

Species
Homo sapiens
Symbol
HMGB1
Name
high mobility group box 1
Synonyms
  • Amphoterin
  • DKFZp686A04236
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA binding activity; signaling receptor binding activity; and transcription coregulator activity. Involved in several processes, including positive regulation of MAPK cascade; regulation of cell migration; and regulation of macromolecule metabolic process. Located in several cellular components, including cell surface; condensed chromosome; and endoplasmic reticulum. Part of alphav-beta3 integrin-HMGB1 complex and transcription repressor complex. Is active in extracellular space. Implicated in amyotrophic lateral sclerosis. Biomarker of Kawasaki disease; cerebral infarction; congestive heart failure; and systemic scleroderma.
RGD Description
This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR48112
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

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

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
          Viewer Help
          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

          HMGB1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            HMGB1 role
            HMGB1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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