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 combined immunodeficiency due to orai1 deficiency and immunodeficiency 9. Among its related pathways are Immune System and Downstream signaling events of B Cell Receptor (BCR). GO annotations related to this gene include identical protein binding and store-operated calcium channel activity.
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. 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.
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.