ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)

2007-02-01 Affiliation

Identity

HGNC

ITPR1

LOCATION

3p26.1

LOCUSID

3708

ALIAS

ACV,CLA4,INSP3R1,IP3R,IP3R1,PPP1R94,SCA15,SCA16,SCA29

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3708
MIM: 147265
HGNC: 6180
Ensembl: ENSG00000150995

Variants:

dbSNP: 3708
ClinVar: 3708
TCGA: ENSG00000150995
COSMIC: ITPR1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000150995	ENST00000302640	Q14643
ENSG00000150995	ENST00000354582	A0A3F2YNW8
ENSG00000150995	ENST00000357086	Q14643
ENSG00000150995	ENST00000443694	Q14643
ENSG00000150995	ENST00000456211	Q14643
ENSG00000150995	ENST00000467056	A0A3B3IRT5
ENSG00000150995	ENST00000478515	A0A3B3ITQ4
ENSG00000150995	ENST00000544951	B7ZMI3
ENSG00000150995	ENST00000647685	A0A3B3ITM1
ENSG00000150995	ENST00000647708	A0A3B3IRZ9
ENSG00000150995	ENST00000648016	A0A3B3IRP0
ENSG00000150995	ENST00000648038	A0A3B3ITQ1
ENSG00000150995	ENST00000648212	A0A3B3IU13
ENSG00000150995	ENST00000648266	A0A3B3IU04
ENSG00000150995	ENST00000648309	Q14643
ENSG00000150995	ENST00000648390	A0A3B3ISR4
ENSG00000150995	ENST00000648431	A0A3B3IU05
ENSG00000150995	ENST00000648564	A0A3B3ISE3
ENSG00000150995	ENST00000649015	Q14643
ENSG00000150995	ENST00000649051	A0A3B3ITM6
ENSG00000150995	ENST00000649139	A0A3B3ITM1
ENSG00000150995	ENST00000649414	A0A3B3IS59
ENSG00000150995	ENST00000649908	A0A3B3ITM1
ENSG00000150995	ENST00000650146	A0A3B3IS70
ENSG00000150995	ENST00000650294	A0A3B3ITU8

Expression (GTEx)

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

Pathway	Source	External ID
Calcium signaling pathway	KEGG	ko04020
Phosphatidylinositol signaling system	KEGG	ko04070
Autophagy - animal	KEGG	ko04140
Apoptosis	KEGG	ko04210
Gap junction	KEGG	ko04540
Long-term potentiation	KEGG	ko04720
Long-term depression	KEGG	ko04730
GnRH signaling pathway	KEGG	ko04912
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Calcium signaling pathway	KEGG	hsa04020
Phosphatidylinositol signaling system	KEGG	hsa04070
Autophagy - animal	KEGG	hsa04140
Apoptosis	KEGG	hsa04210
Gap junction	KEGG	hsa04540
Long-term potentiation	KEGG	hsa04720
Long-term depression	KEGG	hsa04730
GnRH signaling pathway	KEGG	hsa04912
Alzheimer's disease	KEGG	hsa05010
Huntington's disease	KEGG	hsa05016
Vascular smooth muscle contraction	KEGG	hsa04270
Vascular smooth muscle contraction	KEGG	ko04270
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Oocyte meiosis	KEGG	ko04114
Oocyte meiosis	KEGG	hsa04114
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Gastric acid secretion	KEGG	ko04971
Gastric acid secretion	KEGG	hsa04971
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Proteoglycans in cancer	KEGG	hsa05205
Proteoglycans in cancer	KEGG	ko05205
Estrogen signaling pathway	KEGG	hsa04915
Estrogen signaling pathway	KEGG	ko04915
Thyroid hormone synthesis	KEGG	hsa04918
Thyroid hormone synthesis	KEGG	ko04918
Inflammatory mediator regulation of TRP channels	KEGG	hsa04750
Inflammatory mediator regulation of TRP channels	KEGG	ko04750
Platelet activation	KEGG	hsa04611
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Renin secretion	KEGG	hsa04924
Renin secretion	KEGG	ko04924
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Signaling by the B Cell Receptor (BCR)	REACTOME	R-HSA-983705
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	REACTOME	R-HSA-983695
Innate Immune System	REACTOME	R-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosis	REACTOME	R-HSA-2029480
Role of phospholipids in phagocytosis	REACTOME	R-HSA-2029485
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
DAG and IP3 signaling	REACTOME	R-HSA-1489509
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated Ca+2 mobilization	REACTOME	R-HSA-2871809
C-type lectin receptors (CLRs)	REACTOME	R-HSA-5621481
CLEC7A (Dectin-1) signaling	REACTOME	R-HSA-5607764
CLEC7A (Dectin-1) induces NFAT activation	REACTOME	R-HSA-5607763
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Nitric oxide stimulates guanylate cyclase	REACTOME	R-HSA-392154
cGMP effects	REACTOME	R-HSA-418457
Platelet calcium homeostasis	REACTOME	R-HSA-418360
Elevation of cytosolic Ca2+ levels	REACTOME	R-HSA-139853
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
Effects of PIP2 hydrolysis	REACTOME	R-HSA-114508
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
EGFR interacts with phospholipase C-gamma	REACTOME	R-HSA-212718
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
PLC-gamma1 signalling	REACTOME	R-HSA-167021
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (q) signalling events	REACTOME	R-HSA-416476
Opioid Signalling	REACTOME	R-HSA-111885
G-protein mediated events	REACTOME	R-HSA-112040
PLC beta mediated events	REACTOME	R-HSA-112043
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
Ca2+ pathway	REACTOME	R-HSA-4086398
Muscle contraction	REACTOME	R-HSA-397014
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	REACTOME	R-HSA-381676
Aldosterone synthesis and secretion	KEGG	hsa04925
Aldosterone synthesis and secretion	KEGG	ko04925
Cardiac conduction	REACTOME	R-HSA-5576891
Ion homeostasis	REACTOME	R-HSA-5578775
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
15067324	2004	Gene expression profiling predicts clinical outcome of prostate cancer.	171
17256008	2007	Regulation of autophagy by the inositol trisphosphate receptor.	129
19325567	2009	The inositol 1,4,5-trisphosphate receptor regulates autophagy through its interaction with Beclin 1.	102
17590087	2007	Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.	101
18657507	2008	Targeting Bcl-2-IP3 receptor interaction to reverse Bcl-2's inhibition of apoptotic calcium signals.	92
16223735	2005	Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.	70
25966694	2015	Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.	68
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
12766172	2003	RhoA interaction with inositol 1,4,5-trisphosphate receptor and transient receptor potential channel-1 regulates Ca2+ entry. Role in signaling increased endothelial permeability.	59
19730683	2009	The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.	59

Citation

Dessen P

ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45527/itpr1