ITPR1
Summary: This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| inositol 1,4,5-trisphosphate receptor type 1 | MIM:147265 | Ensembl:ENSG00000150995 | HGNC:HGNC:6180 | PA29978 | 3p26.1 |
GO terms in ITPR1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
| MF | ISS | GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
| MF | TAS | GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
| MF | IBA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0015085 | calcium ion transmembrane transporter activity |
| MF | ISS | GO:0015278 | calcium-release channel activity |
| MF | IDA | GO:0019855 | calcium channel inhibitor activity |
| MF | IBA | GO:0035091 | phosphatidylinositol binding |
| MF | ISS | GO:0035091 | phosphatidylinositol binding |
| MF | IBA | GO:0070679 | inositol 1,4,5 trisphosphate binding |
| MF | IEA | GO:0070679 | inositol 1,4,5 trisphosphate binding |
| CC | IEA | GO:0005637 | nuclear inner membrane |
| CC | IEA | GO:0005730 | nucleolus |
| CC | ISS | GO:0005783 | endoplasmic reticulum |
| CC | NAS | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005955 | calcineurin complex |
| CC | IEA | GO:0014069 | postsynaptic density |
| CC | HDA | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0016529 | sarcoplasmic reticulum |
| CC | IEA | GO:0016529 | sarcoplasmic reticulum |
| CC | IEA | GO:0030658 | transport vesicle membrane |
| CC | IBA | GO:0030659 | cytoplasmic vesicle membrane |
| CC | IBA | GO:0030667 | secretory granule membrane |
| CC | IDA | GO:0031088 | platelet dense granule membrane |
| CC | IDA | GO:0031094 | platelet dense tubular network |
| CC | TAS | GO:0031095 | platelet dense tubular network membrane |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IDA | GO:0001666 | response to hypoxia |
| BP | NAS | GO:0006816 | calcium ion transport |
| BP | NAS | GO:0007165 | signal transduction |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | TAS | GO:0010506 | regulation of autophagy |
| BP | TAS | GO:0030168 | platelet activation |
| BP | IEA | GO:0032469 | endoplasmic reticulum calcium ion homeostasis |
| BP | IEA | GO:0042045 | epithelial fluid transport |
| BP | IEA | GO:0048016 | inositol phosphate-mediated signaling |
| BP | TAS | GO:0050796 | regulation of insulin secretion |
| BP | IDA | GO:0050849 | negative regulation of calcium-mediated signaling |
| BP | IEA | GO:0050882 | voluntary musculoskeletal movement |
| BP | IBA | GO:0051209 | release of sequestered calcium ion into cytosol |
| BP | ISS | GO:0051209 | release of sequestered calcium ion into cytosol |
| BP | ISS | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress |
| BP | TAS | GO:1903779 | regulation of cardiac conduction |
Gene expression in normal tissue: ITPR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ITPR1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-111885 | Opioid Signalling |
| reactome | R-HSA-112040 | G-protein mediated events |
| reactome | R-HSA-112043 | PLC beta mediated events |
| reactome | R-HSA-114508 | Effects of PIP2 hydrolysis |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-139853 | Elevation of cytosolic Ca2+ levels |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1489509 | DAG and IP3 signaling |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-194138 | Signaling by VEGF |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029485 | Role of phospholipids in phagocytosis |
| reactome | R-HSA-2454202 | Fc epsilon receptor (FCERI) signaling |
| reactome | R-HSA-2871809 | FCERI mediated Ca+2 mobilization |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-381676 | Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| reactome | R-HSA-3858494 | Beta-catenin independent WNT signaling |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-392154 | Nitric oxide stimulates guanylate cyclase |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-4086398 | Ca2+ pathway |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-418346 | Platelet homeostasis |
| reactome | R-HSA-418360 | Platelet calcium homeostasis |
| reactome | R-HSA-418457 | cGMP effects |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-4420097 | VEGFA-VEGFR2 Pathway |
| reactome | R-HSA-5218921 | VEGFR2 mediated cell proliferation |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5578775 | Ion homeostasis |
| reactome | R-HSA-5578775 | Ion homeostasis |
| reactome | R-HSA-5607763 | CLEC7A (Dectin-1) induces NFAT activation |
| reactome | R-HSA-5607764 | CLEC7A (Dectin-1) signaling |
| reactome | R-HSA-5621481 | C-type lectin receptors (CLRs) |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-9006925 | Intracellular signaling by second messengers |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| reactome | R-HSA-983695 | Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
| reactome | R-HSA-983695 | Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
| reactome | R-HSA-983705 | Signaling by the B Cell Receptor (BCR) |
| reactome | R-HSA-983705 | Signaling by the B Cell Receptor (BCR) |
| pharmgkb | PA2024 | Beta-agonist/Beta-blocker Pathway, Pharmacodynamics |
| kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
| kegg | hsa04022 | cGMP-PKG signaling pathway - Homo sapiens (human) |
| kegg | hsa04070 | Phosphatidylinositol signaling system - Homo sapiens (human) |
| kegg | hsa04114 | Oocyte meiosis - Homo sapiens (human) |
| kegg | hsa04140 | Autophagy - animal - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04270 | Vascular smooth muscle contraction - Homo sapiens (human) |
| kegg | hsa04371 | Apelin signaling pathway - Homo sapiens (human) |
| kegg | hsa04540 | Gap junction - Homo sapiens (human) |
| kegg | hsa04611 | Platelet activation - Homo sapiens (human) |
| kegg | hsa04621 | NOD-like receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04625 | C-type lectin receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04713 | Circadian entrainment - Homo sapiens (human) |
| kegg | hsa04720 | Long-term potentiation - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04724 | Glutamatergic synapse - Homo sapiens (human) |
| kegg | hsa04725 | Cholinergic synapse - Homo sapiens (human) |
| kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
| kegg | hsa04728 | Dopaminergic synapse - Homo sapiens (human) |
| kegg | hsa04730 | Long-term depression - Homo sapiens (human) |
| kegg | hsa04750 | Inflammatory mediator regulation of TRP channels - Homo sapiens (human) |
| kegg | hsa04912 | GnRH signaling pathway - Homo sapiens (human) |
| kegg | hsa04915 | Estrogen signaling pathway - Homo sapiens (human) |
| kegg | hsa04918 | Thyroid hormone synthesis - Homo sapiens (human) |
| kegg | hsa04921 | Oxytocin signaling pathway - Homo sapiens (human) |
| kegg | hsa04922 | Glucagon signaling pathway - Homo sapiens (human) |
| kegg | hsa04924 | Renin secretion - Homo sapiens (human) |
| kegg | hsa04925 | Aldosterone synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04927 | Cortisol synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa04970 | Salivary secretion - Homo sapiens (human) |
| kegg | hsa04971 | Gastric acid secretion - Homo sapiens (human) |
| kegg | hsa04972 | Pancreatic secretion - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
| kegg | hsa05167 | Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human) |
| kegg | hsa05205 | Proteoglycans in cancer - Homo sapiens (human) |
| netpath | Pathway_BCR | BCR |
| netpath | Pathway_TCR | TCR |
| smpdb | SMP00296 | Acebutolol Action Pathway |
| smpdb | SMP00297 | Alprenolol Action Pathway |
| smpdb | SMP00298 | Atenolol Action Pathway |
| smpdb | SMP00299 | Betaxolol Action Pathway |
| smpdb | SMP00300 | Bisoprolol Action Pathway |
| smpdb | SMP00301 | Esmolol Action Pathway |
| smpdb | SMP00302 | Metoprolol Action Pathway |
| smpdb | SMP00303 | Nadolol Action Pathway |
| smpdb | SMP00304 | Oxprenolol Action Pathway |
| smpdb | SMP00305 | Penbutolol Action Pathway |
| smpdb | SMP00306 | Pindolol Action Pathway |
| smpdb | SMP00307 | Propranolol Action Pathway |
| smpdb | SMP00323 | Quinidine Action Pathway |
| smpdb | SMP00324 | Procainamide (Antiarrhythmic) Action Pathway |
| smpdb | SMP00325 | Disopyramide Action Pathway |
| smpdb | SMP00326 | Fosphenytoin (Antiarrhythmic) Action Pathway |
| smpdb | SMP00327 | Phenytoin (Antiarrhythmic) Action Pathway |
| smpdb | SMP00328 | Lidocaine (Antiarrhythmic) Action Pathway |
| smpdb | SMP00329 | Mexiletine Action Pathway |
| smpdb | SMP00330 | Tocainide Action Pathway |
| smpdb | SMP00331 | Flecainide Action Pathway |
| smpdb | SMP00332 | Ibutilide Action Pathway |
| smpdb | SMP00359 | Diltiazem Action Pathway |
| smpdb | SMP00366 | Nebivolol Action Pathway |
| smpdb | SMP00367 | Carvedilol Action Pathway |
| smpdb | SMP00368 | Labetalol Action Pathway |
| smpdb | SMP00375 | Verapamil Action Pathway |
| smpdb | SMP00376 | Amlodipine Action Pathway |
| smpdb | SMP00377 | Felodipine Action Pathway |
| smpdb | SMP00378 | Isradipine Action Pathway |
| smpdb | SMP00379 | Nifedipine Action Pathway |
| smpdb | SMP00380 | Nimodipine Action Pathway |
| smpdb | SMP00381 | Nisoldipine Action Pathway |
| smpdb | SMP00382 | Nitrendipine Action Pathway |
| smpdb | SMP00588 | Muscle/Heart Contraction |
| smpdb | SMP00657 | Bopindolol Action Pathway |
| smpdb | SMP00658 | Carteolol Action Pathway |
| smpdb | SMP00659 | Timolol Action Pathway |
| smpdb | SMP00660 | Sotalol Action Pathway |
| smpdb | SMP00661 | Epinephrine Action Pathway |
| smpdb | SMP00662 | Dobutamine Action Pathway |
| smpdb | SMP00663 | Isoprenaline Action Pathway |
| smpdb | SMP00664 | Arbutamine Action Pathway |
| smpdb | SMP00665 | Amiodarone Action Pathway |
| smpdb | SMP00666 | Levobunolol Action Pathway |
| smpdb | SMP00667 | Metipranolol Action Pathway |
| smpdb | SMP00668 | Bevantolol Action Pathway |
| smpdb | SMP00669 | Practolol Action Pathway |
| smpdb | SMP00670 | Bupranolol Action Pathway |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP289 | Myometrial Relaxation and Contraction Pathways |
| wikipathways | WP35 | G Protein Signaling Pathways |
| wikipathways | WP3679 | Cell-type Dependent Selectivity of CCK2R Signaling |
| wikipathways | WP536 | Calcium Regulation in the Cardiac Cell |
| wikipathways | WP69 | T-Cell antigen Receptor (TCR) Signaling Pathway |
| wikipathways | WP722 | Serotonin HTR1 Group and FOS Pathway |
| wikipathways | WP732 | Serotonin Receptor 2 and ELK-SRF-GATA4 signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD870 | BRD63610 | 2 |
| iGMDRD187 | BRD9876 | 3 |
| iGMDRD294 | Batimastat | 2 |
| iGMDRD138 | PX 12 | 1 |
| iGMDRD474 | Avrainvillamide | 2 |
| iGMDRD613 | CHEMBL258148 | 3 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD74 | Idarubicin | 4 |
| iGMDRD399 | Selumetinib | 4 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD398 | Sepantronium | 1 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD670 | ML 210 | 2 |
| iGMDRD483 | SCH-529074 | 2 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD394 | BX-795 | 6 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD289 | Parthenolide | 4 |
| iGMDRD415 | LE-135 | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD158 | NSC141540 | 5 |
| iGMDRD103 | SN-38 | 2 |
| iGMDRD5 | Tyrphostin AG 1478 | 3 |
| iGMDRD552 | AZD-1775 | 3 |
| iGMDRD322 | FK 866 | 1 |
| iGMDRD269 | Purmorphamine | 1 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD560 | MK-2206 | 3 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD154 | NSC23766 | 4 |
| iGMDRD341 | Triacsin c | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ITPR1
CLASSFICATION
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