ORAI1 ORAI calcium release-activated calcium modulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ORAI1provided by HGNC
Official Full Name: ORAI calcium release-activated calcium modulator 1provided by HGNC
Primary source: HGNC:HGNC:25896
See related: Ensembl:ENSG00000276045 MIM:610277; AllianceGenome:HGNC:25896
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IMD9; TAM2; ORAT1; CRACM1; TMEM142A
Summary: 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]
Annotation information: Annotation category: suggests misassembly
Expression: Ubiquitous expression in skin (RPKM 16.4), duodenum (RPKM 14.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (121626530..121643109)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (121619725..121636322)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (122064455..122079946)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of Orai1 and Peizo1 genes expression with cellular proliferation, metastasis and angiogenesis biomarkers in colon tumor biopsies of CRC patients.
Title: Association of Orai1 and Peizo1 genes expression with cellular proliferation, metastasis and angiogenesis biomarkers in colon tumor biopsies of CRC patients.
Neutrophil-specific ORAI1 Calcium Channel Inhibition Reduces Pancreatitis-associated Acute Lung Injury.
Title: Neutrophil-specific ORAI1 Calcium Channel Inhibition Reduces Pancreatitis-associated Acute Lung Injury.
Physiological functions of calcium signaling via Orai1 in cancer.
Title: Physiological functions of calcium signaling via Orai1 in cancer.
Functional differences in agonist-induced plasma membrane expression of Orai1alpha and Orai1beta.
Title: Functional differences in agonist-induced plasma membrane expression of Orai1α and Orai1β.
Orai1 calcium channel inhibition prevents progression of chronic pancreatitis.
Title: Orai1 calcium channel inhibition prevents progression of chronic pancreatitis.
Super resolution microscopy analysis reveals increased Orai1 activity in asthma and cystic fibrosis lungs.
Title: Super resolution microscopy analysis reveals increased Orai1 activity in asthma and cystic fibrosis lungs.
A pathogenic human Orai1 mutation unmasks STIM1-independent rapid inactivation of Orai1 channels.
Title: A pathogenic human Orai1 mutation unmasks STIM1-independent rapid inactivation of Orai1 channels.
The store-operated Ca[2+] channel Orai1alpha is required for agonist-evoked NF-kappaB activation by a mechanism dependent on PKCbeta2.
Title: The store-operated Ca(2+) channel Orai1α is required for agonist-evoked NF-κB activation by a mechanism dependent on PKCβ2.
STIM1 and ORAI1 form a novel cold transduction mechanism in sensory and sympathetic neurons.
Title: STIM1 and ORAI1 form a novel cold transduction mechanism in sensory and sympathetic neurons.
AKAP79 Orchestrates a Cyclic AMP Signalosome Adjacent to Orai1 Ca[2+] Channels.
Title: AKAP79 Orchestrates a Cyclic AMP Signalosome Adjacent to Orai1 Ca(2+) Channels.

Submit: New GeneRIF Correction See all GeneRIFs (358)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined immunodeficiency due to ORAI1 deficiency MedGen: C2748568 OMIM: 612782 GeneReviews: Not available	Compare labs
Myopathy, tubular aggregate, 2 MedGen: C4014557 OMIM: 615883 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat modulates ORAI expression in neuron cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables store-operated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables store-operated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in calcium ion import	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in ion channel modulating, G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in ligand-gated ion channel signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mammary gland epithelium development	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of adenylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in store-operated calcium entry	IBA Inferred from Biological aspect of Ancestor more info
involved_in store-operated calcium entry	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
part_of calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane raft	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: calcium release-activated calcium channel protein 1

Names: calcium release-activated calcium modulator 1; protein orai-1; transmembrane protein 142A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007500.1 RefSeqGene

Range

4981..20466

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_93

mRNA and Protein(s)

NM_032790.4 → NP_116179.2 calcium release-activated calcium channel protein 1

See identical proteins and their annotated locations for NP_116179.2

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) represents the protein-coding allele.

Source sequence(s)

AC140062, LKPB02000057

UniProtKB/Swiss-Prot

Q3MHV3, Q6DHX2, Q96BP7, Q96D31, Q96K71

Conserved Domains (1) summary

pfam07856
Location:73 → 267

Orai-1; Mediator of CRAC channel activity

RNA

NR_186857.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) represents the non-protein coding allele.

Source sequence(s)

AC140062, KF511472

Related

ENST00000646827.1