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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
  • 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

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 and cAMP signaling pathway. GO annotations related to this gene include identical protein binding and store-operated calcium channel activity. An important paralog of this gene is ORAI2.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ORAI1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ORAI1 Gene at MOPED

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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0016020 membrane IEA,IDA 19946888
GO:0016323 basolateral plasma membrane 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:0002250 adaptive immune response IEA --
GO:0070588 calcium ion transmembrane transport 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
2-APB Pharma Antagonist, Pore Blocker IP3 receptor antagonist. Also TRP channel modulator 0

(4) Additional Compounds for ORAI1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5J 4
827001-82-1
ML 9 hydrochloride
105637-50-1
SKF 96365 hydrochloride
130495-35-1
YM 58483
223499-30-7

(5) Tocris Compounds for ORAI1 Gene

Compound Action Cas Number
2-APB IP3 receptor antagonist. Also TRP channel modulator 524-95-8
5J 4 CRAC channel blocker; anti-inflammatory 827001-82-1
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
SKF 96365 hydrochloride TRPC channel blocker; also inhibits store-operated Ca2+ entry 130495-35-1
YM 58483 Inhibitor of SOCE in non-excitable cells 223499-30-7
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 (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, MOPED, and MaxQB for ORAI1 Gene



SOURCE GeneReport for Unigene cluster for ORAI1 Gene Hs.55148

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

Protein tissue co-expression partners for ORAI1 Gene

- Elite partner

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 35
  • 93.4 (n)
  • 97.53 (a)
dog
(Canis familiaris)
Mammalia ORAI1 35
  • 91.56 (n)
  • 95 (a)
mouse
(Mus musculus)
Mammalia Orai1 35
  • 88.27 (n)
  • 91.7 (a)
Orai1 16
chimpanzee
(Pan troglodytes)
Mammalia ORAI1 35
  • 98.34 (n)
  • 99.34 (a)
rat
(Rattus norvegicus)
Mammalia Orai1 35
  • 88.01 (n)
  • 90.91 (a)
chicken
(Gallus gallus)
Aves ORAI1 35
  • 77.43 (n)
  • 91.15 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia orai2 35
  • 75.53 (n)
  • 88.19 (a)
Str.15128 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23967 35
zebrafish
(Danio rerio)
Actinopterygii Dr.25945 35
LOC566671 35
  • 74.19 (n)
  • 83.41 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8801 35
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

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
VAR_026226 Immunodeficiency 9 (IMD9)
rs3741596 - 121,641,389(+) CCGCC(A/G)GTGGC reference, missense
VAR_071473 Myopathy, tubular aggregate, 2 (TAM2)
rs1983268 -- 121,642,322(-) TAGCT(C/T)ACTGC downstream-variant-500B
rs7135617 -- 121,631,099(+) AAGTT(G/T)CCTGT intron-variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ORAI1 Gene

Disorders for ORAI1 Gene

MalaCards: The human disease database

(7) 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
combined immunodeficiency due to orai1 deficiency
  • cid due to orai1 deficiency
myopathy, tubular aggregate, 1
  • tubular aggregate myopathy
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 67
  2. Distinct structural domains of caveolin-1 independently regulate Ca2+ release-activated Ca2+ channels and Ca2+ microdomain-dependent gene expression. (PMID: 25645930) Yeh Y.C. … Parekh A.B. (Mol. Cell. Biol. 2015) 3
  3. Orai1-Orai2 complex is involved in store-operated calcium entry in chondrocyte cell lines. (PMID: 25769459) Inayama M. … Imaizumi Y. (Cell Calcium 2015) 3
  4. Store-Operated Ca2+ Channels in Mesangial Cells Inhibit Matrix Protein Expression. (PMID: 25788524) Wu P. … Ma R. (J. Am. Soc. Nephrol. 2015) 3
  5. Facilitation of Orai3 targeting and store-operated function by Orai1. (PMID: 25791427) Alansary D. … Niemeyer B.A. (Biochim. Biophys. Acta 2015) 3

Products for ORAI1 Gene

Sources for ORAI1 Gene

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