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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... See more...
Aliases for ORAI1 Gene
Aliases for ORAI1 Gene
External Ids for ORAI1 Gene
- HGNC: 25896
- NCBI Entrez Gene: 84876
- Ensembl: ENSG00000276045
- OMIM®: 610277
- UniProtKB/Swiss-Prot: Q96D31
Previous HGNC Symbols for ORAI1 Gene
- TMEM142A
Previous GeneCards Identifiers for ORAI1 Gene
- GC12P120550
- GC12P122064
- GC12P119077
- GC12P121665
- GC12P121668
- GC12P122336
- GC12P122415
- GC12P122440
- GC12P122635
- GC12P121672
- GC12P121679
- GC12P121683
- GC12P121997
- GC12P122020
- GC12P122103
- GC12P122178
- GC12P122258
- GC12P122835
Summaries 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 TCR signaling in naive CD4+ T cells and Downstream signaling events of B Cell Receptor (BCR). Gene Ontology (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 Summary 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, PubMed:28219928, PubMed:20354224, PubMed:26956484). 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).
-
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.
Additional gene information for ORAI1 Gene
- HGNC (25896)
- NCBI Entrez Gene (84876)
- Ensembl (ENSG00000276045)
- OMIM® (610277)
- UniProtKB/Swiss-Prot (Q96D31)
- Open Targets Platform(ENSG00000276045)
- Monarch Initiative
- Search for ORAI1 at DataMed
- Search for ORAI1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ORAI1 Gene
Genomics for ORAI1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ORAI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ORAI1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ORAI1
- Top Transcription factor binding sites by QIAGEN in the ORAI1 gene promoter:
-
- FOXO1
- FOXO1a
- HNF-4alpha1
- HNF-4alpha2
- p53
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- S8
- STAT5A
Genomic Locations for ORAI1 Gene
Latest Assembly
- chr12:121,626,550-121,642,677
- (GRCh38/hg38)
- Size:
- 16,128 bases
- Orientation:
- Plus strand
Previous Assembly
- chr12:122,064,455-122,079,946
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 15,492 bases
- Orientation:
- Plus strand
Genomic View for ORAI1 Gene
Genes around ORAI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
ORAI1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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, PubMed:28219928, PubMed:27185316, PubMed:30481768). 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). Interacts with ADCY8; interaction is calcium store depletion independent; interaction occurs in membrane raft; interaction increases markedly after store depletion; positively regulates SOCE-induced adenylate cyclase activity; contributes to the targeting of ADCY8 to discrete regions of the plasma membrane that are shielded from other calcium events (PubMed:22494970). Interacts with EFHB; the interaction takes place upon Ca(2+)-store depletion (PubMed:30481768).
- SequenceCaution:
-
- Sequence=AAH13386.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI04634.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55068.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- In Greek mythology, the 'Orai' are the keepers of the gates of heaven: Eunomia (order or harmony), Dike (justice) and Eirene (peace).
Protein Expression for ORAI1 Gene
Post-translational modifications for ORAI1 Gene
- N-glycosylated (PubMed:19249086, PubMed:26956484). N-glycosylation inhibits channel activity in T cells (PubMed:26956484).
- Ubiquitinated.
- Cys-195 is oxidated, leading to inactivation of channel activity.
-
Glycosylation at Asn223
- NX_Q96D31 (NX_Q96D31-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ORAI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ ORAI1 Antibody
- NSJ Bioreagents ORAI1 Antibody (CRACM1)
- HUABIO Orai1 Antibody (ER1803-11)
- Novus Biologicals Antibodies for ORAI1
-
Abcam antibodies for ORAI1
- Invitrogen Antibodies for ORAI1 (AFLGC-Orai1)
-
Custom Antibody ServicesProSci Antibodies for ORAI1
- ORAI calcium release-activated calcium modulator 1 [4041]
- ORAI calcium release-activated calcium modulator 1 [4281]
- ORAI calcium release-activated calcium modulator 1 [30-571]
- ORAI calcium release-activated calcium modulator 1 [30-572]
- ORAI calcium release-activated calcium modulator 1 [46-765]
- ORAI calcium release-activated calcium modulator 1 [PM-5205]
- ORAI calcium release-activated calcium modulator 1 [PM-5207]
-
Santa Cruz Biotechnology (SCBT) Antibodies for ORAI1
Protein products for research
-
OriGene Purified Proteins for ORAI1
- Search Origene for MassSpec and Protein Over-expression Lysates for ORAI1
- Origene Custom Protein Services for ORAI1
-
Abcam proteins for ORAI1
Assay products for research
- antibodies-online: Show 7 available ORAI1 Elisa Kits ranked by validation data
- Compare Top ORAI1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ORAI1 Gene
Domains & Families for ORAI1 Gene
Gene Families for ORAI1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for ORAI1 Gene
- InterPro:
- Blocks:
-
- Protein of unknown function DUF1650
- ProtoNet:
Suggested Antigen Peptide Sequences for ORAI1 Gene
- GenScript: Design optimal peptide antigens:
-
- Transmembrane protein 142A (CRCM1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96D31- Family:
-
- Belongs to the Orai family.
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, PubMed:28219928, PubMed:20354224, PubMed:26956484). 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).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Oxidation at Cys-195 leads to inactivation of channel activity.
Phenotypes From GWAS Catalog for ORAI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005262 | calcium channel activity | IDA | 31009446 |
| GO:0005515 | protein binding | IPI | 17360584 |
| GO:0005516 | calmodulin binding | IEA | -- |
| GO:0015279 | store-operated calcium channel activity | IDA | 16645049 |
| GO:0042802 | identical protein binding | IPI | 18757751 |
Phenotypes for ORAI1 Gene
- MGI mutant phenotypes for ORAI1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for ORAI1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Moderately decreased NFAT1-GFP nuclear translocation
- Increased the percentage of infected cells
Animal Models for ORAI1 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for ORAI1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ORAI1 - Starting at $85 >
- * ORAI1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ORAI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ORAI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ORAI1
miRNA for ORAI1 Gene
- miRTarBase miRNAs that target ORAI1
-
- hsa-miR-17-5p (MIRT133312)
- hsa-miR-20a-5p (MIRT133313)
- hsa-miR-93-5p (MIRT133314)
- hsa-miR-106b-5p (MIRT133316)
- hsa-miR-20b-5p (MIRT133317)
- hsa-miR-519d-3p (MIRT133321)
- mmu-miR-742-3p (MIRT578074)
- mmu-miR-3078-5p (MIRT578076)
- hsa-miR-4668-5p (MIRT616652)
- hsa-miR-4799-5p (MIRT616653)
- hsa-miR-6505-3p (MIRT616654)
- hsa-miR-4509 (MIRT616655)
- hsa-miR-4744 (MIRT616656)
- hsa-miR-8087 (MIRT616657)
- hsa-miR-7161-5p (MIRT616658)
- hsa-miR-548u (MIRT616659)
- hsa-miR-186-5p (MIRT616660)
- hsa-miR-3133 (MIRT616661)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ORAI1
- Browse OriGene Inhibitory RNA Products For ORAI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ORAI1
Clone products for research
- Applied Biological Materials (abm): Clones for ORAI1 - Starting at $45 >
- * ORAI1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ORAI1
- Addgene plasmids for ORAI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ORAI1
Cell Lines for research
-
Horizon Cell Lines for ORAI1
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. Note=Isoform beta is more mobile in the plasma membrane (PubMed:23307288). Colocalizes with STIM1 at the cell membrane (PubMed:27185316). {ECO:0000269 PubMed:23307288, ECO:0000269 PubMed:27185316}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
- Cytosol (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | IEA,IDA | 19171672 |
| GO:0005887 | integral component of plasma membrane | IDA | 16645049 |
| GO:0016020 | membrane | IBA | 21873635 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ORAI1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Aldosterone synthesis and secretion |
.41
|
|
| 2 | Cardiac conduction |
.39
|
|
| 3 | Platelet homeostasis | ||
| 4 | TCR signaling in naive CD4+ T cells | ||
| 5 | Calcium signaling pathway | ||
Pathways by source for ORAI1 Gene
1 Sino Biological pathway for ORAI1 Gene
2 BioSystems pathways for ORAI1 Gene
11 Reactome pathways for ORAI1 Gene
8 KEGG pathways for ORAI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002115 | store-operated calcium entry | IBA,IDA | 28219928 |
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
Drugs & Compounds for ORAI1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| 2-APB | Pharma | IP3 receptor antagonist. Also TRP channel modulator | 0 | |||
| ML 9 hydrochloride | Pharma | Myosin light chain kinase inhibitor | 0 | |||
| SKF 96365 hydrochloride | Pharma | SOCE inhibitor, TRPC channel blocker; also inhibits store-operated Ca2+ entry | 0 | |||
| YM 58483 | Pharma | Inhibitor of SOCE in non-excitable cells | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 5J 4 |
|
827001-82-1 |
|
|
(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 |
Transcripts for ORAI1 Gene
mRNA/cDNA for ORAI1 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000611718 852 nts (view in UCSC)
- ENST00000617316 1496 nts (view in UCSC)
- ENST00000646827 2138 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ORAI1 - Starting at $85 >
- * ORAI1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ORAI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ORAI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ORAI1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ORAI1
- Browse OriGene Inhibitory RNA Products For ORAI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ORAI1
Clone products for research
- Applied Biological Materials (abm): Clones for ORAI1 - Starting at $45 >
- * ORAI1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ORAI1
- Addgene plasmids for ORAI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ORAI1
Relevant External Links for ORAI1 Gene
- GeneLoc Exon Structure for
- ORAI1
Expression for ORAI1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Primary Oocyte Primary Follicle
-
Gonad
- Primary Oocyte Primary Follicle
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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ORAI1
SOURCE GeneReport for Unigene cluster for ORAI1 Gene:
Hs.55148mRNA Expression by UniProt/SwissProt for ORAI1 Gene:
Q96D31-CRCM1_HUMAN
Tissue specificity:
Expressed in naive CD4 and CD8 T cells (at protein level) (PubMed:26956484). Expressed at similar levels in naive and effector T helper cells (PubMed:20354224).
Evidence on tissue expression from TISSUES for ORAI1 Gene
- Liver(4.5)
- Bone marrow(4.4)
- Muscle(3.7)
- Skin(2.5)
- Blood(2.5)
- Intestine(2.4)
- Heart(2.2)
- Kidney(2.2)
- Nervous system(2.2)
- Spleen(2.2)
- Lymph node(2.1)
- Stomach(2)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ORAI1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- ear
- eye
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- skull
- tooth
Thorax:
- heart
- lung
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- nail
- shin
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- sweat gland
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for ORAI1
-
OriGene qPCR primer pairs and template standards for ORAI1
Gene Expression Assays for research
Orthologs for ORAI1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ORAI1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | ORAI1 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | ORAI1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Orai1 30 17 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | Orai1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | ORAI1 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | orai2 30 |
|
||
| Str.15128 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23967 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC566671 30 |
|
||
| Dr.25945 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8801 30 |
|
- Species where no ortholog for ORAI1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ORAI1: view image
Paralogs for ORAI1 Gene
Variants for ORAI1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ORAI1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 193469 | Conflicting Interpretations: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2; not specified | 121,626,879(+) |
ACCGCC/. NC_000012.12:g.121626879_121626884delACCGCC |
NO_SEQUENCE_ALTERATION | |
| 835802 | Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 | 121,626,871(+) |
G/T NM_032790.3(ORAI1):c.124G>T (p.Ala42Ser) |
MISSENSE | |
| 839088 | Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 | 121,641,245(+) |
C/T NM_032790.3(ORAI1):c.508C>T (p.Arg170Cys) |
MISSENSE | |
| 850177 | Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 | 121,641,113(+) |
T/C NM_032790.3(ORAI1):c.376T>C (p.Cys126Arg) |
MISSENSE | |
| 850935 | Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 | 121,641,560(+) |
G/C NM_032790.3(ORAI1):c.823G>C (p.Glu275Gln) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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)
Additional Variant Information for ORAI1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORAI1 Gene
Disorders for ORAI1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 9 |
|
|
| myopathy, tubular aggregate, 2 |
|
|
| combined immunodeficiency due to crac channel dysfunction |
|
|
| stormorken syndrome |
|
|
| myopathy, tubular aggregate, 1 |
|
|
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 variants 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, ECO:0000269 PubMed:28058752}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for ORAI1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ORAI1 Gene
Publications for ORAI1 Gene
- A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. (PMID: 16582901) Feske S … Rao A (Nature 2006) 2 3 4 74
- Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. (PMID: 24591628) Nesin V … Tsiokas L (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 74
- EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction. (PMID: 30481768) Albarran L … Rosado JA (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018) 3 4
- ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. (PMID: 28058752) Böhm J … Laporte J (Human mutation 2017) 3 4
- Mitochondria control store-operated Ca2+ entry through Na+ and redox signals. (PMID: 28219928) Ben-Kasus Nissim T … Sekler I (The EMBO journal 2017) 3 4
ExternalLinks
Products for ORAI1 Gene
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Sources for ORAI1 Gene
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