Human Gene ORAI1 (ENST00000617316.2) from GENCODE V44
Description: Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA. (from RefSeq NM_032790) RefSeq Summary (NM_032790): 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]. Gencode Transcript: ENST00000617316.2 Gencode Gene: ENSG00000276045.4 Transcript (Including UTRs) Position: hg38 chr12:121,626,550-121,642,040 Size: 15,491 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr12:121,626,743-121,641,643 Size: 14,901 Coding Exon Count: 3
ID:CRCM1_HUMAN DESCRIPTION: RecName: Full=Calcium release-activated calcium channel protein 1; AltName: Full=Protein orai-1; AltName: Full=Transmembrane protein 142A; FUNCTION: 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. SUBUNIT: Interacts with STIM1 and STIM2. Interacts with EFCAB4B/CRACR2A; the interaction is direct and takes place in absence of Ca(2+). Forms a complex with EFCAB4B/CRACR2A and STIM1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with ASPH (isoform 8). INTERACTION: O75185:ATP2C2; NbExp=10; IntAct=EBI-2291476, EBI-2939806; Q9BSW2:EFCAB4B; NbExp=6; IntAct=EBI-2291476, EBI-739773; Q13586:STIM1; NbExp=11; IntAct=EBI-2291476, EBI-448878; SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Isoform beta is more mobile in the plasma membrane. DISEASE: Defects in ORAI1 are the cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1) [MIM:612782]. IDTICED1 is an immune disorder characterized by recurrent infections, impaired T-cell activation and proliferative response, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhydrosis and non-progressive myopathy may be observed. MISCELLANEOUS: In Greek mythology, the 'Orai' are the keepers of the gates of heaven: Eunomia (order or harmony), Dike (justice) and Eirene (peace). SIMILARITY: Belongs to the Orai family. SEQUENCE CAUTION: Sequence=AAH13386.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI04634.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55068.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=ORAI1base; Note=ORAI1 mutation db; URL="http://bioinf.uta.fi/ORAI1base/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07856 - Mediator of CRAC channel activity
ModBase Predicted Comparative 3D Structure on Q96D31
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002115 store-operated calcium entry GO:0002250 adaptive immune response GO:0002376 immune system process GO:0006811 ion transport GO:0006816 calcium ion transport GO:0051924 regulation of calcium ion transport GO:0051928 positive regulation of calcium ion transport GO:0061180 mammary gland epithelium development GO:0070509 calcium ion import GO:0070588 calcium ion transmembrane transport
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Sequence and Links to Tools and Databases 
Microarray Expression Data 
