ORAI1 (ORAI calcium release-activated calcium modulator 1)

2007-02-01  

Identity

HGNC
ORAI1
LOCATION
12q24.31
LOCUSID
84876
ALIAS
CRACM1,IMD9,ORAT1,TAM2,TMEM142A

Other Information

Locus ID:

NCBI: 84876
MIM: 610277
HGNC: 25896

Variants:

dbSNP: 84876
ClinVar: 84876
COSMIC: ORAI1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Primary immunodeficiencyKEGGko05340
Calcium signaling pathwayKEGGhsa04020
Primary immunodeficiencyKEGGhsa05340
Platelet activationKEGGhsa04611
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersREACTOMER-HSA-983695
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet calcium homeostasisREACTOMER-HSA-418360
Elevation of cytosolic Ca2+ levelsREACTOMER-HSA-139853
Muscle contractionREACTOMER-HSA-397014
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
165829012006A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.817
166450492006CRACM1 is a plasma membrane protein essential for store-operated Ca2+ entry.535
169213832006Orai1 is an essential pore subunit of the CRAC channel.506
192490862009STIM1 clusters and activates CRAC channels via direct binding of a cytosolic domain to Orai1.412
191827902009SOAR and the polybasic STIM1 domains gate and regulate Orai channels.297
169788652006CRACM1 multimers form the ion-selective pore of the CRAC channel.264
191858472009Orai1 and STIM1 are critical for breast tumor cell migration and metastasis.234
167335272006Amplification of CRAC current by STIM1 and CRACM1 (Orai1).233
167665332006Orai1 and STIM reconstitute store-operated calcium channel function.230
181874242008Dynamic coupling of the putative coiled-coil domain of ORAI1 with STIM1 mediates ORAI1 channel activation.185

Citation

Dessen P

ORAI1 (ORAI calcium release-activated calcium modulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46187/orai1