1. Gene
  2. ORAI1 - ORAI calcium release-activated calcium modulator 1 Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calcium channel activity IDA
IDA: Inferred from direct assay
31009446 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
18757751 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17360584 GOA
enables store-operated calcium channel activity IDA
IDA: Inferred from direct assay
16645049 GOA
Biological Process GO Annotation Evidence Reference Source
involved in calcineurin-NFAT signaling cascade IMP
IMP: Inferred from mutant phenotype
33941685 GOA
involved in calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
31009446 GOA
involved in positive regulation of adenylate cyclase activity IDA
IDA: Inferred from direct assay
19171672 GOA
involved in positive regulation of calcium ion transport IDA
IDA: Inferred from direct assay
16645049 GOA
involved in regulation of calcium ion transport IMP
IMP: Inferred from mutant phenotype
16921383 GOA
involved in store-operated calcium entry IDA
IDA: Inferred from direct assay
16921383 GOA
Cellular Component GO Annotation Evidence Reference Source
located in membrane raft IDA
IDA: Inferred from direct assay
22494970 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
16645049 GOA
located in plasma membrane raft IDA
IDA: Inferred from direct assay
19171672 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ORAI1 Protein Structure

Orai-1

Orai-1: Mediator of CRAC channel activity (70 - 271)

  • 0
  • 100
  • 200
  • 303 a.a.
Protein Preferred Names Protein Names

calcium release-activated calcium channel protein 1

calcium release-activated calcium modulator 1

ORAI1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Cross
ORAI1 Q96D31 Trpc6 Mus musculus Q61143 17360584
Cross
ORAI1 Q96D31 Trpc6 Mus musculus Q61143 17360584
Intra
ORAI1 Q96D31 STIM1 Homo sapiens Q13586 19249086
Intra
ORAI1 Q96D31 ORAI1 Homo sapiens Q96D31 20018736
Intra
ORAI1 Q96D31 STIM1 Homo sapiens Q13586 19249086
Intra
ORAI1 Q96D31 STIM1 Homo sapiens Q13586 19249086
Intra
ORAI1 Q96D31 ORAI1 Homo sapiens Q96D31
GMS
19249086
Intra
ORAI1 Q96D31 STIM1 Homo sapiens Q13586 19706554
Intra
ORAI1 Q96D31 STIM1 Homo sapiens Q13586
AFM
24996186
Intra
ORAI1 Q96D31 ORAI1 Homo sapiens Q96D31 18757751
Intra
ORAI1 Q96D31 STIM1 Homo sapiens Q13586
GMS
19249086
Intra
ORAI1 Q96D31 STIM1 Homo sapiens Q13586 20418871
Intra
ORAI1 Q96D31 EFHB Homo sapiens Q8N7U6 30481768
Intra
ORAI1 Q96D31 ATP2C2 Homo sapiens O75185 20887894
Intra
ORAI1 Q96D31 ATP2C2 Homo sapiens O75185 20887894
Intra
ORAI1 Q96D31 ATP2C2 Homo sapiens O75185 20887894
Intra
ORAI1 Q96D31 ORAI3 Homo sapiens Q9BRQ5 24954132
Intra
ORAI1 Q96D31 ORAI3 Homo sapiens Q9BRQ5 19887627
Intra
ORAI1 Q96D31 CRACR2A Homo sapiens Q9BSW2 20418871
Intra
ORAI1 Q96D31 CRACR2A Homo sapiens Q9BSW2 20418871
Intra
ORAI1 Q96D31 TRPC1 Homo sapiens P48995 21408196
Cross: Cross-species interaction Intra: Intraspecies interaction

ORAI1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83412 ORAI1 Antibody (YA3157) WB Human

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

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