Recombinant Human Inositol 1,4,5-trisphosphate receptor type 1 (ITPR1), partial

1. Tespa1 functions in T cell development and the regulation of TCR-induced Ca(2+) signalling through IP3R1 PMID: 28598420
2. Data show that native IP3 receptors (IP3Rs) are scaffolded into small clusters within endoplasmic reticulum (ER) membranes. PMID: 29138405
3. ITPR1 homozygous pathogenic variant is associated with Gillespie syndrome presenting a cardiac defect (pulmonary valve stenosis) and a genitourinary malformation. PMID: 29169895
4. MICU2 restricts spatial crosstalk between InsP3R and MCU channels by regulating threshold and gain of MICU1-mediated inhibition and activation of MCU. PMID: 29241542
5. Findings show that a pathogenic gain-of-function missense mutation within the suppressor region of ITPR1 causes SCA29 without cerebellar atrophy or other neuroimaging abnormalities; the Arg36Cys variant results in enhanced Ca2+ release due to alterations in the Ca2+ signal patterns from transient to sigmoidal, supporting a gain-of-function disease mechanism. PMID: 28620721
6. we provide a detailed phenotypic description of a family with a missense mutation in ITPR1 PMID: 28826917
7. High ITPR1 expression is associated with cervical carcinoma. PMID: 27588468
8. We also observed that acetylcholine attenuated the formation of NCX1-TRPC3-IP3R1 complexes and maintained calcium homeostasis in cells treated with TNF-alpha. PMID: 28395930
9. wogonoside promotes the expression of PLSCR1 and enhances its nuclear translocation and binding to the 1, 4, 5-trisphosphate receptor 1 (IP3R1) promoter in AML patient-derived primary cells. Wogonoside activates IP3R1, in turn, promotes release of Ca(2+) from endoplasmic reticulum, and eventually leads to cell differentiation PMID: 28492556
10. study broadens the mutational spectrum of ITPR1 and also emphasizes the importance of considering ITPR1 mutations as a potential cause of inherited cerebellar ataxias PMID: 29186133
11. predominant role of P2Y1 receptors in human embryonic stem cells and a transition of P2Y-IP3R coupling in derived cardiovascular progenitor cells are responsible for the differential Ca(2+) mobilization between these cells. PMID: 27098757
12. we broadened the spectrum of ITPR1-related ataxias by identifying a de novo missense mutations in a patient with very severe hypoplasia of cerebellum and pons, mimicking PCH. PMID: 27862915
13. Homozygous ITPR1 missense variant [c.5360T>C; p.(L1787P)] segregated with cerebellar hypoplasia. Heterozygous carriers were asymptomatic. PMID: 28488678
14. increased mitochondrial calcium due to the gain-of-function enhancement of IP3R channels in the cells expressing PS1-M146L leads to the opening of permeability transition pore in high conductance state. PMID: 27184076
15. Data suggest that ADRB2 (beta2 adrenergic receptor) activation (as illustrated by epinephrine and nor epinephrine) leads to robust calcium ion mobilization from intracellular stores in endoplasmic reticulum via activation of phosphoinositide phospholipase C (PLC) and opening of inositol trisphosphate receptor (IP3R). PMID: 28442571
16. Data indicate that unlike ryanodine receptor RyRs, inositol 145-trisphosphate receptor IP3Rs are present and continually functional at early stages of cardiomyocyte differentiation. PMID: 27430888
17. ITPR1 is the SCA15 causative gene. PMID: 27908616
18. results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic defects for Gillespie syndrome, further extending the spectrum of ITPR1-related diseases PMID: 27108797
19. Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. PMID: 27108798
20. Studies indicate that four IP3-binding sites within the tetrameric inositol 1,4,5-trisphosphate receptors (IP3Rs) must bind inositol 145-trisphosphate (IP3) before the channel can open for intracellular Ca2+ signals. PMID: 27048564
21. Data show that inositol 145-trisphosphate receptor type 1 (IP3R1) -with a single inositol 145-trisphosphate (IP3) binding-deficient subunit lack activity. PMID: 27048566
22. SNPs in ITPR1 and CNTN4 are involved in the regulation of serum uric acid concentrations in Mexican Americans PMID: 27039371
23. concluded that the HERPUD1-mediated cytoprotective effect against oxidative stress depends on the ITPR and Ca(2+) transfer from the endoplasmic reticulum to mitochondria PMID: 26616647
24. Studies indicate that the ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR). PMID: 25966694
25. ITPR1 missense mutations cause infantile-onset cerebellar ataxia. PMID: 25794864
26. cAMP is delivered directly and at saturating concentrations to its targets, mediate sensitization of IP3R and a more slowly developing inhibition of IP3 accumulation. PMID: 25431134
27. the ability to generate tetramers with defined wild type and mutant subunits will be useful in probing fundamental questions relating to IP3Rs (R1, R2, R3) structure and function. PMID: 26009177
28. hyperphosphorylation contributes to prostate cancer cell resistance to androgen deprivation PMID: 25740420
29. ITPR1 has a role in the pathogenesis of autoimmune cerebellitis in cerebellar ataxia. PMID: 25498830
30. IT plays an essential role in the development of drug dependence. PMID: 26255430
31. we identified two in our cohort with a diagnosis of ataxic cerebral palsy who were found to have a de novo mutation in ITPR1 PMID: 25981959
32. Ca(2+) release mediated by IP3R1 is an essential mechanism during the early steps of myoblast differentiation. PMID: 25468730
33. IP3R palmitoylation is a critical regulator of Ca(2+) flux in immune cells and a previously unidentified DHHC/Selk complex is responsible for this process. PMID: 25368151
34. a pleiotropic enzyme transglutaminase type 2 targets the allosteric coupling domain of IP3R type 1 (IP3R1) and negatively regulates IP3R1-mediated calcium signaling and autophagy by locking the subunit configurations. PMID: 25201980
35. Both ITPR1 and Beclin-1 silencing in 786-0 cells inhibited NK-induced autophagy. PMID: 25297632
36. These data indicate that imiquimod triggers IP3 receptor-dependent Ca(2+) signaling independently of TLR7. PMID: 24971541
37. Activation of GalR2 leads to elevation of intracellular Ca(2+) due to Ca(2+) efflux from endoplasmic reticulum through IP3R sequentially opening BK alpha channels. PMID: 24602615
38. results indicate that in some congenital myopathy patients RYR1 deficiency concomitantly alters the expression pattern of several proteins involved in calcium homeostasis and that this may influence the manifestation of these diseases PMID: 23553787
39. The Galphaq-protein/coupled receptor/IP3R axis modulates the electromechanical properties of the human myocardium and its propensity to develop arrhythmias. PMID: 23983250
40. CHERP and ALG-2 participate in regulation of alternative splicing of IP3R1 pre-mRNA and provide new insights into post-transcriptional regulation of splicing variants in Ca(2+) signaling pathways. PMID: 24078636
41. Studies indicate that three subtypes of inositol 1,4,5-trisphosphate (IP3) receptors (IP3R1, -2, and -3) are assembled to form homo- and heterotetrameric channels that mediate Ca(2+) release from intracellular stores. PMID: 23955339
42. These results suggest an involvement of hydrogen sulfide in both IP3-induced calcium signalling and induction of apoptosis, possibly through the activation of endoplasmic reticulum stress. PMID: 23582047
43. The inositol 1,4,5-trisphosphate receptors are not degradated until very late in apoptosis, and this is despite robust calpain activation as determined by alpha-fodrin cleavage in the presence of Z-VAD-FMK. PMID: 23122728
44. we propose a novel regulatory mechanism of IP3R1 activity by type III intermediate filament vimentin PMID: 22929228
45. study demonstrates that alteration of ITPR1 function cause a distinct congenital nonprogressive ataxia; highlighting heterogeneity associated with ITPR1 gene and a role of the ITPR1-related pathway in the development and maintenance of the cerebellum. PMID: 22986007
46. Glutathionylation may represent a fundamental mechanism for regulating IP3R activity during physiological redox signalling and during pathologicalical oxidative stress PMID: 22855054
47. These combined findings implicate IP3-gated Ca(2+) as a key regulator of TDP-43 nucleoplasmic shuttling and proteostasis and suggest pharmacologic inhibition of ITPR1 as a strategy to combat TDP-43-induced neurodegeneration in vivo. PMID: 22872699
48. Thus, rather than involving the 5-HT3-dependent pathway, the negative effect of ondansetron on platelet aggregation is instead manifested through the attenuation of agonist-induced IP3 production and MAPK (p38 and ERK2). PMID: 22818390
49. Type 1 inositol-1,4,5-trisphosphate receptor is a late substrate of caspases during apoptosis. PMID: 22473799
50. Authors conclude that ITPR1 gene deletions are much rarer in Japan than in Europe. PMID: 22318346

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HGNC: 6180

OMIM: 117360

KEGG: hsa:3708

STRING: 9606.ENSP00000306253

UniGene: Hs.567295