Version: 8.0.0
Date: Tue Jan 28 2025
SQSTM1
Homo sapiensHGNC:11280
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SQSTM1

Species
Homo sapiens
Symbol
SQSTM1
Name
sequestosome 1
Synonyms
  • A170
  • autophagy receptor p62
Biotype
protein coding gene
Automated Description
Enables several functions, including SH2 domain binding activity; enzyme binding activity; and modification-dependent protein binding activity. Involved in several processes, including macroautophagy; negative regulation of ferroptosis; and regulation of signal transduction. Located in several cellular components, including P-body; PML body; and vacuole. Is active in autophagosome; cytosol; and intracellular membraneless organelle. Implicated in Paget's disease of bone; Paget's disease of bone 3; distal myopathy with rimmed vacuoles; frontotemporal dementia and/or amyotrophic lateral sclerosis 3; and neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.
RGD Description
This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15090
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
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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

          SQSTM1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SQSTM1 role
            SQSTM1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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