GENE NAME | ORAI1 |
CHROMOSOME | 12 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000276045 |
UNIPROT ACCESSION NUMBER | None |
GO MOLECULAR FUNCTION | ['calcium channel activity', 'store-operated calcium channel activity', 'calmodulin binding', 'protein binding', 'identical protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04020; hsa04024; hsa04611; hsa04924; hsa04925; hsa04927; hsa04934; hsa05340; R-HSA-109582; R-HSA-1280218; R-HSA-139853; R-HSA-168256; R-HSA-397014; R-HSA-418346; R-HSA-418360; R-HSA-5576891; R-HSA-5578775; R-HSA-983695; R-HSA-983705 |
1 combination linked to ORAI1 | OLI1465 |
1 variant linked to ORAI1 | ORAI1:c.126_127insA, p.Pro43ThrfsTer47 |
1 disease linked to ORAI1 | Rare pervasive developmental disorder |