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Human ITPR1 Protein expressed in Wheat germ - ABIN1308255
Jarius, Wandinger, Horn, Heuer, Wildemann: A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterization. in Journal of neuroinflammation 2010
Inositol 1,4,5-trisphosphate receptors (IP3Rs) are required for the hematopoietic and cardiac fate divergence of mouse embryonic stem cells. Deletion of IP3Rs (IP3R-tKO) reduced Flk1+/PDGFRalpha- hematopoietic mesoderm, c-Kit+/CD41+ hematopoietic progenitor cell population, and the colony-forming unit activity, but increased cardiac progenitor markers as well as cardiomyocytes.
Data show that endothelial cells (ECs)-specific type 1 1,4,5-trisphosphate receptor knockout (IP3R1(-/-)) mice are hypertensive and display blunted vasodilation in response to acetylcholine (ACh (显示 FGFR3 蛋白)).
Cone-specific gene deletion of the inositol-1,4,5-trisphosphate receptor type I (IP3R1) also significantly increased cone density in the CNG (显示 CNGA1 蛋白)-channel-deficient mice, suggesting that IP3R1 signaling contributes to Ca(2 (显示 CA2 蛋白)+) homeostasis and cone survival.
Pathological mutations of ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) were found in seven patients from four families all localized in the IRBIT (显示 AHCYL1 蛋白) (inositol triphosphate receptor binding protein) domain.
The results suggest that IP3R1 and IP3R3 (显示 ITPR3 蛋白) are required for extra-embryonic vascularization in the placenta, allantois, and yolk sac (显示 ADCY10 蛋白).
The results show that phosphorylations by Cdk1 (显示 CDK1 蛋白) and MAPK (显示 MAPK1 蛋白) enhance the activity of IP3R1, which is consistent with its maximal activity observed at the time of fertilization and the role of Ca(2 (显示 CA2 蛋白)+) release in egg activation.
data indicate that PTPalpha (显示 PTPRA 蛋白) and FAK (显示 PTK2 蛋白), which are enriched in FAs (显示 FAS 蛋白), interact with IP3R1 at adjacent ER sites to spatially sequester IL-1 (显示 IL1A 蛋白)-induced Ca(2 (显示 CA2 蛋白)+) signalling
IGF-1 (显示 IGF1 蛋白) strengthens the interaction between NCS-1 (显示 NCS1 蛋白) and IP3R in the process of regulation of nuclear Ca2 (显示 CA2 蛋白)+ signaling in cardiomyocytes.
Car8 (显示 CA8 蛋白) regulates inflammatory pain by inhibiting the ITPR1-cytosolic free calcium pathway.
cGMP/protein kinase (显示 CDK7 蛋白) G signaling suppresses Itpr1 phosphorylation and promotes endoplasmic reticulum stress in photoreceptors of Cnga3 (显示 CNGA3 蛋白)-deficient mice.
ITPR1 homozygous pathogenic variant is associated with Gillespie syndrome presenting a cardiac defect (pulmonary valve stenosis) and a genitourinary malformation.
MICU2 restricts spatial crosstalk between InsP3R and MCU (显示 MCU 蛋白) channels by regulating threshold and gain of MICU1 (显示 MICU1 蛋白)-mediated inhibition and activation of MCU (显示 MCU 蛋白).
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 (显示 CA2 蛋白)+ release due to alterations in the Ca2 (显示 CA2 蛋白)+ signal patterns from transient to sigmoidal, supporting a gain-of-function disease mechanism.
we provide a detailed phenotypic description of a family with a missense mutation in ITPR1
High ITPR1 expression is associated with cervical carcinoma.
We also observed that acetylcholine attenuated the formation of NCX1 (显示 SLC8A1 蛋白)-TRPC3 (显示 TRPC3 蛋白)-IP3R1 complexes and maintained calcium homeostasis in cells treated with TNF-alpha (显示 TNF 蛋白).
wogonoside promotes the expression of PLSCR1 (显示 PLSCR1 蛋白) and enhances its nuclear translocation and binding to the 1, 4, 5-trisphosphate receptor 1 (IP3R1) promoter in AML (显示 RUNX1 蛋白) patient-derived primary cells. Wogonoside activates IP3R1, in turn, promotes release of Ca(2 (显示 CA2 蛋白)+) from endoplasmic reticulum, and eventually leads to cell differentiation
study broadens the mutational spectrum of ITPR1 and also emphasizes the importance of considering ITPR1 mutations as a potential cause of inherited cerebellar ataxias
predominant role of P2Y1 (显示 P2RY1 蛋白) receptors in human embryonic stem cells and a transition of P2Y (显示 P2RY1 蛋白)-IP3R coupling in derived cardiovascular progenitor cells are responsible for the differential Ca(2 (显示 CA2 蛋白)+) mobilization between these cells.
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.
STIM1 (显示 STIM1 蛋白) and STIM2 (显示 Stim2 蛋白) are expressed in bovine aortic endothelial cells and they both interact with IP3R-1.
we propose a model in which the partial unfolding of the suppressor domain by apo (显示 C9orf3 蛋白)-CaM (显示 KRIT1 蛋白) and the stepwise binding of the N lobe (显示 LTF 蛋白) of CaM (显示 KRIT1 蛋白) to the suppressor domain are important elements of calcium/CaM (显示 KRIT1 蛋白) inhibition of IP(3)R
structural mapping of the amino acid sequences to several functional domains is deduced within the structure of the InsP3R1 tetramer
the InsP3R/Ca2 (显示 CA2 蛋白)+ channel is regulated by chromogranin B (显示 CHGB 蛋白)
the redox potential and Ca(2 (显示 CA2 蛋白)+) can regulate IP(3)R through totally different mechanisms: Ca(2 (显示 CA2 蛋白)+) by the indirect effect and the redox potential by direct action causing conformational changes
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.
inositol 1,4,5-triphosphate receptor, type 1
, type I inositol triphosphate receptor
, IP3 receptor
, IP3R 1
, InsP3R type I