Calcium release activated calcium channel protein 1;
Calcium release activated calcium modulator 1;
Calcium release-activated calcium channel protein 1;
CRACM 1;
CRACM1;
CRCM1;
CRCM1_HUMAN;
FLJ14466;
Orai 1;
ORAI calcium release activated calcium modulator 1;
orai1;
ORAT1;
Protein orai 1;
Protein orai-1;
TMEM 142A;
TMEM142A;
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.
Subcellular Location:
Cell 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.
Similarity:
Belongs to the Orai family.
SWISS:
Q96D31
Gene ID:
84876
Database links:
Entrez Gene: 84876 Human
Entrez Gene: 517688 Cow
Entrez Gene: 109305 Mouse
Entrez Gene: 100154923 Pig
Entrez Gene: 304496 Rat
Omim: 610277 Human
SwissProt: Q96D31 Human
SwissProt: Q8BWG9 Mouse
SwissProt: Q5M848 Rat
Unigene: 55148 Human
Unigene: 218582 Mouse
Unigene: 3869 Rat
|
|
