Version: 8.0.0
Date: Tue Jan 28 2025
CERT1
Homo sapiensHGNC:2205
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CERT1

Species
Homo sapiens
Symbol
CERT1
Name
ceramide transporter 1
Synonyms
  • ceramide transfer protein
  • ceramide transporter
Biotype
protein coding gene
Automated Description
Enables several functions, including ceramide transfer activity; identical protein binding activity; and phosphatidylinositol-4-phosphate binding activity. Involved in ER to Golgi ceramide transport and intermembrane sphingolipid transfer. Located in Golgi apparatus; nucleoplasm; and perinuclear region of cytoplasm. Implicated in autosomal dominant intellectual developmental disorder 34.
RGD Description
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22902
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
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    Disease Associations

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

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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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

        No data available

        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
        Must provide at least one subject
        Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

        Molecular Interactions

        CERT1 molecule type
        Interactor gene
        Interactor species
        Interactor molecule type
        Detection methods
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          Genetic Interactions

          CERT1 role
          CERT1 genetic perturbation
          Interactor gene
          Interactor species
          Interactor role
          Interactor genetic perturbation
          Interaction type
          Phenotype or trait
          Source
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