Aliases for ORAI1 Gene
External Ids for ORAI1 Gene
Previous HGNC Symbols for ORAI1 Gene
Previous GeneCards Identifiers for ORAI1 Gene
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]
GeneCards Summary for ORAI1 Gene
ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1) is a Protein Coding gene. Diseases associated with ORAI1 include Immunodeficiency 9 and Myopathy, Tubular Aggregate, 2. Among its related pathways are Platelet activation, signaling and aggregation and Cardiac conduction. GO annotations related to this gene include identical protein binding and store-operated calcium channel activity. An important paralog of this gene is ORAI3.
UniProtKB/Swiss-Prot for ORAI1 Gene
Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed:16582901).
STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated calcium entry (SOCE). STIM (stromal interaction molecule) proteins are ER Ca2+ sensors. Orai proteins are STIM binding partners that form the channel pore.