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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ORAI1 Gene

protein-coding   GIFtS: 60
GCID: GC12P122064

ORAI Calcium Release-Activated Calcium Modulator 1

(Previous name: transmembrane protein 142A)
(Previous symbol: TMEM142A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ORAI Calcium Release-Activated Calcium Modulator 11 2     Calcium Release-Activated Calcium Modulator 11 2
TMEM142A1 2 3 5     Protein Orai-12 3
Transmembrane Protein 142A1 2 3     ORAT12
CRACM12 3 5     Calcium Release-Activated Calcium Channel Protein 12

External Ids:    HGNC: 258961   Entrez Gene: 848762   Ensembl: ENSG000001825007   OMIM: 6102775   UniProtKB: Q96D313   

Export aliases for ORAI1 gene to outside databases

Previous GC identifers: GC12P120550 GC12P119077


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 estrogen-receptor negative breast cancer, and immune dysfunction with t-cell inactivation due to calcium entry defect 1, and among its related super-pathways are TCR signaling in naive CD8+ T cells and Immune System. GO annotations related to this gene include protein binding and store-operated calcium channel activity. An important paralog of this gene is ORAI2.

UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31
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

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ORAI1 gene promoter:
         p53   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   STAT5A   HNF-4alpha2   POU3F2   HNF-4alpha1   S8   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidORAI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ORAI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ORAI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

ORAI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ORAI1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P122064:  view genomic region     (about GC identifiers)

Start:
122,064,455 bp from pter      End:
122,080,583 bp from pter
Size:
16,129 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31 (See protein sequence)
Recommended Name: Calcium release-activated calcium channel protein 1  
Size: 301 amino acids; 32668 Da
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)
Subcellular location: Cell membrane; Multi-pass membrane protein. Note=Isoform beta is more mobile in the plasma
membrane
Miscellaneous: In Greek mythology, the 'Orai' are the keepers of the gates of heaven: Eunomia (order or harmony),
Dike (justice) and Eirene (peace)
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;
1 PDB 3D structure from and Proteopedia for ORAI1:
4EHQ (3D)    
Secondary accessions: Q3MHV3 Q6DHX2 Q96BP7 Q96K71
Alternative initiation: 2 isoforms:  Q96D31-1   Q96D31-2   

Explore the universe of human proteins at neXtProt for ORAI1: NX_Q96D31

Explore proteomics data for ORAI1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96D31

  • ORAI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ORAI1 Protein Expression
    REFSEQ proteins: NP_116179.2  
    ENSEMBL proteins: 
     ENSP00000328216   ENSP00000441198  
    Reactome Protein details: Q96D31
    Human Recombinant Protein Products for ORAI1: 
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    GenScript Custom Purified and Recombinant Proteins Services for ORAI1
    Novus Biologicals ORAI1 Proteins
    Novus Biologicals ORAI1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane IDA16645049
    GO:0043234protein complex IEA--

    ORAI1 for ontologies           About GeneDecksing



    ORAI1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ORAI: ORAI calcium release-activated calcium modulators

    1 InterPro protein domain:
     IPR012446 CRAC_channel

    Graphical View of Domain Structure for InterPro Entry Q96D31

    ProtoNet protein and cluster: Q96D31

    1 Blocks protein domain: IPB012446 Protein of unknown function DUF1650

    UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31
    Similarity: Belongs to the Orai family


    ORAI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRCM1_HUMAN, Q96D31
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17905723
    GO:0015279store-operated calcium channel activity IDA16645049
         
    ORAI1 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Orai1):
     cellular  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  vision/eye 

    ORAI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Orai1tm1Rao for ORAI1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ORAI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ORAI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ORAI1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ORAI1 

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate ORAI1 (see all 17):
    hsa-miR-106a hsa-miR-519a hsa-miR-93 hsa-miR-520g hsa-miR-526b* hsa-miR-17 hsa-miR-20a hsa-miR-519d
    SwitchGear 3'UTR luciferase reporter plasmidORAI1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of ORAI1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORAI1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ORAI1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD4+ T cells0.64
    TCR signaling in naive CD8+ T cells0.64
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Platelet calcium homeostasis
    Platelet calcium homeostasis0.53
    Elevation of cytosolic Ca2+ levels0.47
    4Signaling by the B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.81
    5Platelet activation, signaling and aggregation
    Hemostasis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ORAI1
        TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells


    5/8        Reactome Pathways for ORAI1 (see all 8)
        Hemostasis
    Platelet homeostasis
    Adaptive Immune System
    Elevation of cytosolic Ca2+ levels
    Signaling by the B Cell Receptor (BCR)


    2         Kegg Pathways  (Kegg details for ORAI1):
        Calcium signaling pathway
    Primary immunodeficiency


    ORAI1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ORAI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for ORAI1 (Q96D311, 2, 3 ENSP000003282164) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STIM1Q135861, 2, 3, ENSP000003007374EBI-2291476,EBI-448878 MINT-8186918 I2D: score=2 STRING: ENSP00000300737
    ATP2C2O751851, 3, ENSP000002624294EBI-2291476,EBI-2939806 I2D: score=1 STRING: ENSP00000262429
    TRPC6Q9Y2103, ENSP000003409134I2D: score=1 STRING: ENSP00000340913
    TRPC3Q135073, ENSP000003689664I2D: score=1 STRING: ENSP00000368966
    EFCAB4BQ9BSW21, ENSP000004093824EBI-2291476,EBI-739773 STRING: ENSP00000409382
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002115store-operated calcium entry IEA--
    GO:0007596blood coagulation TAS--
    GO:0051924regulation of calcium ion transport IMP16921383
    GO:0051928positive regulation of calcium ion transport IDA16645049

    ORAI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ORAI1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SKF 96365 hydrochlorideTRPC channel blocker; also inhibits store-operated Ca2+ entry[130495-35-1]

    Search CenterWatch for drugs/clinical trials and news about ORAI1 / CRCM1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ORAI1 gene: 
    NM_032790.3  

    Unigene Cluster for ORAI1:

    ORAI calcium release-activated calcium modulator 1
    Hs.55148  [show with all ESTs]
    Unigene Representative Sequence: BM558579
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330079(uc021rff.1) ENST00000537188
    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate ORAI1 (see all 17):
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    SwitchGear 3'UTR luciferase reporter plasmidORAI1 3' UTR sequence
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ORAI1

    Additional mRNA sequence: 

    AK027372.1 BC013386.1 BC015369.1 BC075831.1 BC104633.1 

    4 DOTS entries:

    DT.212931  DT.91698308  DT.95373207  DT.92451792 

    24/108 AceView cDNA sequences (see all 108):

    BQ230434 W76549 BM713220 AI262451 BI767201 BQ055778 CR618487 AI205571 
    CR616901 CA423557 BG574128 BI042414 CR622003 AA312083 BM845467 BG775018 
    BM757320 CD366381 AI928523 CA454002 AA778558 BQ693967 BF980986 AA477033 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ORAI1 expression in normal human tissues (normalized intensities)      ORAI1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTGTGAC
    ORAI1 Expression
    About this image


    ORAI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Primary Oocyte Primary Follicle
             oocyte   
     
     Lung (Respiratory System)
             bronchoalveolar lavage cells   
     
     Gonad
             Primary Oocyte Primary Follicle

    See ORAI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ORAI1

    SOURCE GeneReport for Unigene cluster: Hs.55148
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORAI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ORAI1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Orai11 , 5 ORAI calcium release-activated calcium modulator 11, 5 88.48(n)1
    91.03(a)1
      5 (62.72 cM)5
    1093051  NM_175423.31  NP_780632.11 
     1230150745 
    chicken
    (Gallus gallus)
    Aves ORAI11 ORAI calcium release-activated calcium modulator 1 77.43(n)
    91.15(a)
      416845  NM_001030658.1  NP_001025829.1 
    lizard
    (Anolis carolinensis)
    Reptilia ORAI16
    Uncharacterized protein
    92(a)
    1 ↔ 1
    GL343550.1(125296-143540)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239672 Xenopus laevis transcribed sequence with moderate similarity more 79.2(n)    CA981521.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.259452 Danio rerio clone RK055A1G11 hypothetical protein FLJ14466 more 82.41(n)    AY394960.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta olf186-F1 CG11430-PA 61.03(n)
    53.85(a)
      37040  NM_170626.1  NP_725727.1 
    worm
    (Caenorhabditis elegans)
    Secernentea orai-16
    Protein orai
    29(a)
    1 → many
    III(647126-654463)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ORAI1 gene
    ORAI22  ORAI32  
    2 SIMAP similar genes for ORAI1 using alignment to 2 protein entries:     CRCM1_HUMAN (see all proteins):
    ORAI2    ORAI3

    ORAI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/429 SNPs in ORAI1 are shown (see all 429)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0262264
    Immune dysfunction with T-cell inactivation due to calcium entry defect 1 (IDTICED1)4--see VAR_0262262 R W mis40--------
    rs1871053591,2
    --121860996(+) ATTAGC/GAGATA 1 -- us2k10--------
    rs1900389581,2
    --121861068(+) TGTAAC/TTAACC 1 -- us2k10--------
    rs1494086691,2
    --121861129(+) TTAAAA/TTTTAA 1 -- us2k10--------
    rs2004492081,2
    --121861129(+) TTAAA-/TTTTAA 1 -- us2k10--------
    rs586144441,2
    C--121861132(+) AATTTA/TAAAAA 1 -- us2k11Minor allele frequency- T:0.00WA 2
    rs359896861,2
    C,F--121861133(+) ATTTTA/TAAAAA 1 -- us2k14Minor allele frequency- T:0.14NA CSA 126
    rs1485416671,2
    C--121861159(+) CTCTGC/TGGGAA 1 -- us2k10--------
    rs1170826321,2
    F--121861176(+) ACTTCT/CTGGGG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs123209391,2
    C,F,A,H--121861262(+) CAACCT/GGCAAT 1 -- us2k123Minor allele frequency- G:0.43NS EA NA WA CSA 2344

    HapMap Linkage Disequilibrium report for ORAI1 (122064455 - 122080583 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ORAI1: --

    Human Gene Mutation Database (HGMD): ORAI1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ORAI1
    DNA2.0 Custom Variant and Variant Library Synthesis for ORAI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610277   
    OMIM disorders: 612782  
    UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 1 (IDTICED1) [MIM:612782]: 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 anhidrosis and non-progressive myopathy may be observed. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/23 diseases for ORAI1 (see all 23):    About MalaCards
    estrogen-receptor negative breast cancer    immune dysfunction with t-cell inactivation due to calcium entry defect 1    nephrolithiasis    kawasaki disease
    ectodermal dysplasia    ankylosing spondylitis    severe combined immunodeficiency    spondylitis
    myopathy    diabetes mellitus    atopic dermatitis    hypoxia
    glioblastoma    dermatitis    cystic fibrosis    breast cancer
    retinitis    lung cancer    endotheliitis    prostate cancer


    ORAI1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: ORAI1 (1 document)

    Export disorders for ORAI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ORAI1 gene, integrated from 9 sources (see all 138):
    (articles sorted by number of sources associating them with ORAI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. (PubMed id 16582901)1, 2, 3 Feske S.... Rao A. (2006)
    2. Junctate is a Ca2+-sensing structural component of Ora i1 and stromal interaction molecule 1 (STIM1). (PubMed id 22586105)1, 2 Srikanth S....Gwack Y. (2012)
    3. Alternative translation initiation gives rise to two isoforms of orai1 with distinct plasma membrane mobilities. (PubMed id 22641696)1, 2 Fukushima M.... Putney J.W. (2012)
    4. STIM2 protein mediates distinct store-dependent and store-independent modes of CRAC channel activation. (PubMed id 17905723)1, 2 Parvez S.... Penner R. (2008)
    5. Orai1 and STIM reconstitute store-operated calcium channel function. (PubMed id 16766533)1, 2 Soboloff J....Gill D.L. (2006)
    6. Amplification of CRAC current by STIM1 and CRACM1 (Orai1). (PubMed id 16733527)1, 2 Peinelt C.... Kinet J.-P. (2006)
    7. CRACM1 is a plasma membrane protein essential for store-operated Ca2+ entry. (PubMed id 16645049)1, 2 Vig M....Kinet J.-P. (2006)
    8. Large store-operated calcium selective currents due to co-expression of Orai1 or Orai2 with the intracellular calcium sensor, Stim1. (PubMed id 16807233)1, 2 Mercer J.C.... Putney J.W. Jr. (2006)
    9. A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients. (PubMed id 16147976)1, 2 Feske S.... Lewis R.S. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84876 HGNC: 25896 AceView: FLJ14466 Ensembl:ENSG00000182500 euGenes: HUgn84876
    ECgene: ORAI1 Kegg: 84876 H-InvDB: ORAI1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ORAI1 Pharmacogenomics, SNPs, Pathways
    ORAI1basehttp://bioinf.uta.fi/ORAI1base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ORAI1 gene:
    Search GeneIP for patents involving ORAI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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