Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ORAI1 Gene

Aliases for ORAI1 Gene

  • ORAI Calcium Release-Activated Calcium Modulator 1 2 3
  • Transmembrane Protein 142A 2 3 4
  • TMEM142A 3 4 6
  • CRACM1 3 4 6
  • Calcium Release-Activated Calcium Modulator 1 2 3
  • Protein Orai-1 3 4
  • IMD9 3 6
  • Calcium Release-Activated Calcium Channel Protein 1 3
  • ORAT1 3
  • TAM2 3

External Ids for ORAI1 Gene

Previous Symbols for ORAI1 Gene

  • TMEM142A

Summaries for ORAI1 Gene

Entrez Gene Summary 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 immunodeficiency 9 and combined immunodeficiency due to orai1 deficiency. Among its related pathways are Downstream Signaling Events Of B Cell Receptor (BCR) and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include 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.

Tocris Summary for ORAI1 Gene

  • STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated calcium entry (SOCE). SOCE allows rapid Ca2+ efflux from the endoplasmic reticulum (ER), following the emptying of intracellular Ca2+ stores. STIM (sensors stromal interaction molecule) proteins, STIM1 and STIM2, serve as ER Ca2+ sensors. They contain N-terminal Ca2+-sensing EF-hand domains and are localized to the tubular ER. Following Ca2+ store depletion, STIMs rapidly cluster and relocalize to the plasma membrane-adjacent ER regions, where they oligomerize and form puncta. Orai proteins, Orai1, Orai2 and Orai3, are STIM binding partners that form the pore of the channel. Orai proteins are uniformly distributed in the plasma membrane and exist as dimers in the resting state. STIM activation induces tetramerization of Orai proteins and subsequent STIM-Orai colocalization, which forms the active store-operated calcium channel.

Gene Wiki entry for ORAI1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORAI1 Gene

Genomics for ORAI1 Gene

Genomic Location for ORAI1 Gene

Start:
121,626,550 bp from pter
End:
121,642,677 bp from pter
Size:
16,128 bases
Orientation:
Plus strand

Genomic View for ORAI1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ORAI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORAI1 Gene

Proteins for ORAI1 Gene

  • Protein details for ORAI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D31-CRCM1_HUMAN
    Recommended name:
    Calcium release-activated calcium channel protein 1
    Protein Accession:
    Q96D31
    Secondary Accessions:
    • Q3MHV3
    • Q6DHX2
    • Q96BP7
    • Q96K71

    Protein attributes for ORAI1 Gene

    Size:
    301 amino acids
    Molecular mass:
    32668 Da
    Quaternary structure:
    • Interacts with STIM1 and STIM2; this regulates channel activity. Interacts with CALM; this may displace STIM1 and STIM2 and might thereby modulate channel activity. Interacts with CRACR2A/EFCAB4B; the interaction is direct and takes place in absence of Ca(2+). Forms a complex with CRACR2A/EFCAB4B and STIM1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with ASPH (isoform 8). Interacts with SLC35G1.
    Miscellaneous:
    • In Greek mythology, the Orai are the keepers of the gates of heaven: Eunomia (order or harmony), Dike (justice) and Eirene (peace)
    SequenceCaution:
    • Sequence=AAH13386.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI04634.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55068.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ORAI1 Gene

    Alternative splice isoforms for ORAI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ORAI1 Gene

Proteomics data for ORAI1 Gene at MOPED

Post-translational modifications for ORAI1 Gene

Other Protein References for ORAI1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ORAI1 Gene

Domains for ORAI1 Gene

Gene Families for ORAI1 Gene

HGNC:
  • ORAI :ORAI calcium release-activated calcium modulators

Protein Domains for ORAI1 Gene

UniProtKB/Swiss-Prot:

CRCM1_HUMAN
Family:
  • Belongs to the Orai family.:
    • Q96D31
genes like me logo Genes that share domains with ORAI1: view

Function for ORAI1 Gene

Molecular function for ORAI1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17905723
GO:0005516 calmodulin binding IEA --
GO:0015279 store-operated calcium channel activity IDA 16645049
GO:0042802 identical protein binding IPI 19249086
genes like me logo Genes that share ontologies with ORAI1: view
genes like me logo Genes that share phenotypes with ORAI1: view

Animal Models for ORAI1 Gene

MGI Knock Outs for ORAI1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ORAI1 Gene

Localization for ORAI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORAI1 Gene

Cell membrane; Multi-pass membrane protein. Note=Isoform beta is more mobile in the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ORAI1 Gene COMPARTMENTS Subcellular localization image for ORAI1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
cytoskeleton 1
cytosol 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 16645049
GO:0016020 membrane IDA 19946888
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with ORAI1: view

Pathways for ORAI1 Gene

genes like me logo Genes that share pathways with ORAI1: view

Gene Ontology (GO) - Biological Process for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002115 store-operated calcium entry IBA --
GO:0002376 immune system process IEA --
GO:0007596 blood coagulation TAS --
GO:0051924 regulation of calcium ion transport IMP 16921383
GO:0051928 positive regulation of calcium ion transport IDA 16645049
genes like me logo Genes that share ontologies with ORAI1: view

Compounds for ORAI1 Gene

(1) Tocris Compounds for ORAI1 Gene

Compound Action Cas Number
SKF 96365 hydrochloride TRPC channel blocker; also inhibits store-operated Ca2+ entry [130495-35-1]
genes like me logo Genes that share compounds with ORAI1: view

Transcripts for ORAI1 Gene

mRNA/cDNA for ORAI1 Gene

Unigene Clusters for ORAI1 Gene

ORAI calcium release-activated calcium modulator 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ORAI1 Gene

No ASD Table

Relevant External Links for ORAI1 Gene

GeneLoc Exon Structure for
ORAI1
ECgene alternative splicing isoforms for
ORAI1

Expression for ORAI1 Gene

mRNA expression in normal human tissues for ORAI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ORAI1 Gene

This gene is overexpressed in Whole Blood (7.2) and Skin - Sun Exposed (Lower leg) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ORAI1 Gene

SOURCE GeneReport for Unigene cluster for ORAI1 Gene Hs.55148

genes like me logo Genes that share expressions with ORAI1: view

Orthologs for ORAI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ORAI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ORAI1 36
  • 98.34 (n)
  • 99.34 (a)
cow
(Bos Taurus)
Mammalia ORAI1 36
  • 93.4 (n)
  • 97.53 (a)
dog
(Canis familiaris)
Mammalia ORAI1 36
  • 91.56 (n)
  • 95 (a)
mouse
(Mus musculus)
Mammalia Orai1 36
  • 88.27 (n)
  • 91.7 (a)
Orai1 16
rat
(Rattus norvegicus)
Mammalia Orai1 36
  • 88.01 (n)
  • 90.91 (a)
chicken
(Gallus gallus)
Aves ORAI1 36
  • 77.43 (n)
  • 91.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23967 36
tropical clawed frog
(Silurana tropicalis)
Amphibia orai2 36
  • 75.53 (n)
  • 88.19 (a)
Str.15128 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8801 36
zebrafish
(Danio rerio)
Actinopterygii Dr.25945 36
LOC566671 36
  • 74.19 (n)
  • 83.41 (a)
Species with no ortholog for ORAI1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ORAI1 Gene

ENSEMBL:
Gene Tree for ORAI1 (if available)
TreeFam:
Gene Tree for ORAI1 (if available)

Paralogs for ORAI1 Gene

Selected SIMAP similar genes for ORAI1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ORAI1: view

No data available for Paralogs for ORAI1 Gene

Variants for ORAI1 Gene

Sequence variations from dbSNP and Humsavar for ORAI1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs712853 -- 121,641,762(-) CTCCA(C/T)GCTCT utr-variant-3-prime
rs1983268 -- 121,642,322(-) TAGCT(C/T)ACTGC downstream-variant-500B
rs3741595 -- 121,641,283(+) GTCAT(C/T)GGCAC reference, synonymous-codon
rs3741596 - 121,641,389(+) CCGCC(A/G)GTGGC reference, missense
rs3741597 -- 121,641,442(+) GCAGC(C/T)GCCAT synonymous-codon, reference

Relevant External Links for ORAI1 Gene

HapMap Linkage Disequilibrium report
ORAI1
Human Gene Mutation Database (HGMD)
ORAI1

No data available for Structural Variations from Database of Genomic Variants (DGV) for ORAI1 Gene

Disorders for ORAI1 Gene

(1) OMIM Diseases for ORAI1 Gene (610277)

UniProtKB/Swiss-Prot

CRCM1_HUMAN
  • Immunodeficiency 9 (IMD9) [MIM:612782]: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. {ECO:0000269 PubMed:16147976, ECO:0000269 PubMed:16582901}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]: A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. {ECO:0000269 PubMed:24591628}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ORAI1

Human Genome Epidemiology (HuGE) Navigator
ORAI1
genes like me logo Genes that share disorders with ORAI1: view

Publications for ORAI1 Gene

  1. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. (PMID: 16582901) Feske S. … Rao A. (Nature 2006) 2 3 4
  2. CRACM1 is a plasma membrane protein essential for store-operated Ca2+ entry. (PMID: 16645049) Vig M. … Kinet J.-P. (Science 2006) 3 4
  3. Amplification of CRAC current by STIM1 and CRACM1 (Orai1). (PMID: 16733527) Peinelt C. … Kinet J.-P. (Nat. Cell Biol. 2006) 3 4
  4. Orai1 and STIM reconstitute store-operated calcium channel function. (PMID: 16766533) Soboloff J. … Gill D.L. (J. Biol. Chem. 2006) 3 4
  5. Large store-operated calcium selective currents due to co-expression of Orai1 or Orai2 with the intracellular calcium sensor, Stim1. (PMID: 16807233) Mercer J.C. … Putney J.W. Jr. (J. Biol. Chem. 2006) 3 4

Products for ORAI1 Gene

  • Addgene plasmids for ORAI1

Sources for ORAI1 Gene

Back to Top

Content