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 5
  • Transmembrane Protein 142A 2 3 4
  • Calcium Release-Activated Calcium Modulator 1 2 3
  • Protein Orai-1 3 4
  • TMEM142A 3 4
  • CRACM1 3 4
  • Calcium Release-Activated Calcium Channel Protein 1 3
  • ORAT1 3
  • IMD9 3
  • TAM2 3

External Ids for ORAI1 Gene

Previous HGNC Symbols for ORAI1 Gene

  • TMEM142A

Previous GeneCards Identifiers for ORAI1 Gene

  • GC12P120550
  • GC12P122064
  • GC12P119077
  • GC12P121665
  • GC12P121668
  • GC12P121672

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 Myopathy, Tubular Aggregate, 2. Among its related pathways are Platelet activation, signaling and aggregation and Cardiac conduction. GO annotations related to this gene include identical protein binding and store-operated calcium channel activity. An important paralog of this gene is ORAI3.

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 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628). 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 (PubMed:16582901).

Tocris Summary for ORAI1 Gene

  • STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated calcium entry (SOCE). STIM (stromal interaction molecule) proteins are ER Ca2+ sensors. Orai proteins are STIM binding partners that form the channel pore.

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

Regulatory Elements for ORAI1 Gene

Enhancers for ORAI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ORAI1 on UCSC Golden Path with GeneCards custom track

Promoters for ORAI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ORAI1 Gene

Chromosome:
12
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

Genes around ORAI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORAI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:17905723, PubMed:19249086, PubMed:24351972). Interacts with CALM; this may displace STIM1 and STIM2 and might thereby modulate channel activity (PubMed:23109337). Interacts with CRACR2A/EFCAB4B; the interaction is direct and takes place in absence of Ca(2+) (PubMed:20418871). 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) (PubMed:22586105). Interacts with SLC35G1 (PubMed:22084111). Interacts with UBQLN1 (PubMed:23307288).
    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

Post-translational modifications for ORAI1 Gene

Other Protein References for ORAI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ORAI1 Gene

Domains & Families for ORAI1 Gene

Gene Families for ORAI1 Gene

Protein Domains for ORAI1 Gene

Suggested Antigen Peptide Sequences for ORAI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96D31

UniProtKB/Swiss-Prot:

CRCM1_HUMAN :
  • Belongs to the Orai family.
Family:
  • Belongs to the Orai family.
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 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628). 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 (PubMed:16582901).

Gene Ontology (GO) - Molecular Function for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,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

Human Phenotype Ontology for ORAI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ORAI1 Gene

MGI Knock Outs for ORAI1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ORAI1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ORAI1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cytoplasmic vesicle, autophagosome. Note=Isoform beta is more mobile in the plasma membrane. Colocalizes with UBQLN1 in the autophagosome. {ECO:0000269 PubMed:23307288}.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005776 autophagosome IDA 23307288
GO:0005887 integral component of plasma membrane IDA 16645049
GO:0016020 membrane IEA,IDA 19946888
GO:0016323 basolateral plasma membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with ORAI1: view

Pathways & Interactions for ORAI1 Gene

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

SIGNOR curated interactions for ORAI1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002115 store-operated calcium entry IBA --
GO:0002250 adaptive immune response IEA --
GO:0051924 regulation of calcium ion transport IMP 16921383
GO:0051928 positive regulation of calcium ion transport IDA 16645049
GO:0061180 mammary gland epithelium development IEA --
genes like me logo Genes that share ontologies with ORAI1: view

Drugs & Compounds for ORAI1 Gene

(1) Drugs for ORAI1 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
SKF 96365 hydrochloride Pharma SOCE inhibitor, TRPC channel blocker; also inhibits store-operated Ca2+ entry 0

(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

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(108) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ORAI1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ORAI1

Flow Cytometry Products

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 (x7.2) and Skin - Sun Exposed (Lower leg) (x4.2).

Protein differential expression in normal tissues from HIPED for ORAI1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.9), Breast (19.1), and CD8 Tcells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ORAI1 Gene



Protein tissue co-expression partners for ORAI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ORAI1 Gene:

ORAI1

SOURCE GeneReport for Unigene cluster for ORAI1 Gene:

Hs.55148
genes like me logo Genes that share expression patterns with ORAI1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ORAI1 Gene

Orthologs for ORAI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ORAI1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ORAI1 34
  • 93.4 (n)
  • 97.53 (a)
dog
(Canis familiaris)
Mammalia ORAI1 34
  • 91.56 (n)
  • 95 (a)
mouse
(Mus musculus)
Mammalia Orai1 34
  • 88.27 (n)
  • 91.7 (a)
Orai1 16
chimpanzee
(Pan troglodytes)
Mammalia ORAI1 34
  • 98.34 (n)
  • 99.34 (a)
rat
(Rattus norvegicus)
Mammalia Orai1 34
  • 88.01 (n)
  • 90.91 (a)
chicken
(Gallus gallus)
Aves ORAI1 34
  • 77.43 (n)
  • 91.15 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia orai2 34
  • 75.53 (n)
  • 88.19 (a)
Str.15128 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23967 34
zebrafish
(Danio rerio)
Actinopterygii Dr.25945 34
LOC566671 34
  • 74.19 (n)
  • 83.41 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8801 34
Species where no ortholog for ORAI1 was found in the sources mined by GeneCards:
  • 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

Paralogs for ORAI1 Gene

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

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

Variants for ORAI1 Gene

Sequence variations from dbSNP and Humsavar for ORAI1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs118203993 Immunodeficiency 9 (IMD9) 121,627,018(+) CCAGC(C/T)GGACC reference, missense
rs3741596 - 121,641,389(+) CCGCC(A/G)GTGGC reference, missense
rs587777528 Myopathy, tubular aggregate, 2 (TAM2) 121,641,471(+) GGTGC(C/T)CTTCG reference, missense
rs7310162 -- 121,633,673(+) ttaga(A/T)cttta intron-variant
rs1983268 -- 121,642,322(-) TAGCT(C/T)ACTGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for ORAI1 Gene

Variant ID Type Subtype PubMed ID
esv3630950 CNV loss 21293372
esv3630951 CNV gain 21293372
nsv1053272 CNV gain 25217958
nsv1131048 CNV deletion 24896259
nsv560458 CNV loss 21841781

Variation tolerance for ORAI1 Gene

Residual Variation Intolerance Score: 54.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ORAI1 Gene

Human Gene Mutation Database (HGMD)
ORAI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORAI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORAI1 Gene

Disorders for ORAI1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ORAI1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 9
  • immune dysfunction with t-cell inactivation due to calcium entry defect 1
myopathy, tubular aggregate, 2
  • tam2
myopathy, tubular aggregate, 1
  • myeloproliferative syndrome, transient
anhidrosis
  • absence of sweating
stormorken syndrome
  • thrombocytopathy, asplenia and miosis
- elite association - COSMIC cancer census association via MalaCards
Search ORAI1 in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ORAI1
genes like me logo Genes that share disorders with ORAI1: view

No data available for Genatlas for ORAI1 Gene

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 65
  2. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. (PMID: 24591628) Nesin V. … Tsiokas L. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 4 65
  3. STIM1/Orai1 coiled-coil interplay in the regulation of store-operated calcium entry. (PMID: 24351972) Stathopulos P.B. … Ikura M. (Nat. Commun. 2013) 3 4 65
  4. Ubiquilin 1 interacts with Orai1 to regulate calcium mobilization. (PMID: 23307288) Lee J.E. … Choi J.K. (Mol. Cells 2013) 3 4 65
  5. Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1). (PMID: 22586105) Srikanth S. … Gwack Y. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4 65

Products for ORAI1 Gene

Sources for ORAI1 Gene

Content
Loading form....