Version: 8.0.0
Date: Tue Jan 28 2025
ITPR1
Homo sapiensHGNC:6180
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ITPR1

Species
Homo sapiens
Symbol
ITPR1
Name
inositol 1,4,5-trisphosphate receptor type 1
Synonyms
  • ACV
  • CLA4
Biotype
protein coding gene
Automated Description
Enables calcium channel inhibitor activity and inositol 1,4,5-trisphosphate-gated calcium channel activity. Involved in several processes, including negative regulation of calcium-mediated signaling; release of sequestered calcium ion into cytosol by endoplasmic reticulum; and response to hypoxia. Located in endoplasmic reticulum membrane; platelet dense granule membrane; and platelet dense tubular network. Implicated in Gillespie syndrome; spinocerebellar ataxia type 15; and spinocerebellar ataxia type 29. Biomarker of Alzheimer's disease; gestational diabetes; and pre-eclampsia.
RGD Description
This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13715
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
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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

          ITPR1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            ITPR1 role
            ITPR1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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