ORAI1 - ORAI calcium release-activated calcium modulator 1 Gene

Homo sapiens

Also known as IMD9; TAM2; ORAT1; CRACM1; TMEM142A

Gene ID: 84876 | Gene type: protein coding

About ORAI1

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:121,626,550-121,642,040 (from NCBI)

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]

ORAI1 Products(1)

mRNA	Protein	Name
NM_032790.3	NP_116179.2	calcium release-activated calcium channel protein 1

ORAI1 Protein Structure

Orai-1

0
100
200
303 a.a.

Protein Preferred Names

Protein Names

calcium release-activated calcium channel protein 1

calcium release-activated calcium modulator 1

Related Diseases

Diseases

Alias

Immunodeficiency 9

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1	Combined Immunodeficiency Due To Orai1 Deficiency
IMD9	Cid Due To Orai1 Deficiency
Severe Combined Immunodeficiency Due To Crac Channel Dysfunction	Immunodeficiency, Type 9

Myopathy, Tubular Aggregate, 2

TAM2	Tubular Aggregate Myopathy 2

Stormorken Syndrome

Thrombocytopathy, Asplenia, And Miosis	Stormorken-Sjaastad-Langslet Syndrome
STRMK	York Platelet Syndrome
Yps	Thrombocytopathy, Asplenia And Miosis
Thrombocytopathy Asplenia Miosis	Thrombocytopathy-Asplenia-Miosis Syndrome
Miosis Disorder

Myopathy, Tubular Aggregate, 1

Tubular Aggregate Myopathy	Tam
Myopathy With Tubular Aggregates	TAM1
Myopathy, Tubular Aggregate	Tubular Aggregate Myopathy 1

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

Anhidrosis

Hypohidrosis	Absence Of Sweating
Adiaphoresis	Impaired Sweating
Oligohidrosis

Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2	Combined Immunodeficiency Due To Stim1 Deficiency
IMD10	Stim1 Deficiency
Cid Due To Stim1 Deficiency	Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2
Immunodeficiency, Type 10

T Cell And Nk Cell Immunodeficiency

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Urolithiasis

Myopathy

Muscular Diseases

Myopathies

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Nephrolithiasis

Kidney Stones	Stone - Kidney/Ureter
Kidney Calculi

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-101942	Zegocractin	Inhibitor	99.93%	Phase 2

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19408	Pyr10	Inhibitor	99.42%	Unkown
HY-103310	MRS1845	Inhibitor	99.69%	Unkown
HY-113618B	RO2959 monohydrochloride	Inhibitor	98.21%	Unkown
HY-113618A	RO2959 hydrochloride	Inhibitor	/	Unkown
HY-12521	GSK-5498A	Inhibitor	98.14%	Unkown
HY-103071	GSK-5503A	Inhibitor	/	Unkown
HY-RS09822	ORAI1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ORAI1	VGNC	VGNC:44137
Rattus norvegicus	ORAI1	RGD	RGD:1311873
Mus musculus	ORAI1	MGD	MGI:1925542
Bos taurus	ORAI1	VGNC	VGNC:32443
Macaca mulatta	ORAI1	VGNC	VGNC:75464
Felis catus	ORAI1	VGNC	VGNC:63971

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