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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:121,626,550-121,642,040)mRNA (may differ from genome)Protein (301 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
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="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: ORAI1
Diseases sorted by gene-association score: immunodeficiency 9* (1678), myopathy, tubular aggregate, 2* (1330), myopathy, tubular aggregate, 1* (260), stormorken syndrome* (260), myopathy (4), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -119.60193-0.620 Picture PostScript Text
3' UTR -150.50397-0.379 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012446 - CRAC_channel

Pfam Domains:
PF07856 - Mediator of CRAC channel activity

ModBase Predicted Comparative 3D Structure on Q96D31
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0015279 store-operated calcium channel activity
GO:0042802 identical protein binding

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

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0032991 macromolecular complex

-  Descriptions from all associated GenBank mRNAs
  BC075831 - Homo sapiens ORAI calcium release-activated calcium modulator 1, mRNA (cDNA clone MGC:88616 IMAGE:6645076), complete cds.
BC013386 - Homo sapiens ORAI calcium release-activated calcium modulator 1, mRNA (cDNA clone MGC:22830 IMAGE:3838524), complete cds.
BC015369 - Homo sapiens ORAI calcium release-activated calcium modulator 1, mRNA (cDNA clone MGC:21530 IMAGE:3914595), complete cds.
BC104633 - Homo sapiens ORAI calcium release-activated calcium modulator 1, mRNA (cDNA clone IMAGE:4669968), partial cds.
AK027372 - Homo sapiens cDNA FLJ14466 fis, clone MAMMA1000416.
KJ906376 - Synthetic construct Homo sapiens clone ccsbBroadEn_16046 ORAI1 gene, encodes complete protein.
KJ903474 - Synthetic construct Homo sapiens clone ccsbBroadEn_12868 ORAI1 gene, encodes complete protein.
CU677285 - Synthetic construct Homo sapiens gateway clone IMAGE:100016856 5' read ORAI1 mRNA.
JD189482 - Sequence 170506 from Patent EP1572962.
HI416766 - Sequence 1 from Patent EP2136820.
JD316170 - Sequence 297194 from Patent EP1572962.
JD427713 - Sequence 408737 from Patent EP1572962.
JD226538 - Sequence 207562 from Patent EP1572962.
JD416147 - Sequence 397171 from Patent EP1572962.
JD426589 - Sequence 407613 from Patent EP1572962.
JD136516 - Sequence 117540 from Patent EP1572962.
JD396613 - Sequence 377637 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96D31 (Reactome details) participates in the following event(s):

R-HSA-434700 STIM1 activation of CRAC
R-HSA-434798 CRAC translocates calcium from the extracellular region to the cytosol
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
R-HSA-418360 Platelet calcium homeostasis
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-5578775 Ion homeostasis
R-HSA-418346 Platelet homeostasis
R-HSA-1280218 Adaptive Immune System
R-HSA-5576891 Cardiac conduction
R-HSA-109582 Hemostasis
R-HSA-168256 Immune System
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: CRACM1, CRCM1_HUMAN, ENST00000617316.1, NM_032790, Q3MHV3, Q6DHX2, Q96BP7, Q96D31, Q96K71, TMEM142A, uc031zps.1
UCSC ID: ENST00000617316.2
RefSeq Accession: NM_032790
Protein: Q96D31 (aka CRCM1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.