Gene

ORAI1

Species
Homo sapiens
Symbol
ORAI1
Name
ORAI calcium release-activated calcium modulator 1
Synonyms
  • calcium release-activated calcium channel protein 1
  • calcium release-activated calcium modulator 1
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity and store-operated calcium channel activity. Involved in several processes, including calcineurin-NFAT signaling cascade; calcium ion transport; and positive regulation of adenylate cyclase activity. Located in plasma membrane raft. Implicated in immunodeficiency 9 and tubular aggregate myopathy 2.
RGD Description
The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR31501
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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

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          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

          ORAI1 molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            ORAI1 role
            ORAI1 genetic perturbation
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