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Mouse Anti-ITPR1 Recombinant Antibody (CBYY-I0045) (CBMAB-I0113-YY)

This product is Mouse antibody that recognizes ITPR1. The antibody CBYY-I0045 can be used for immunoassay techniques such as: WB, IF, IP
See all ITPR1 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Cattle, Dog, Mouse, Rat
Clone
CBYY-I0045
Antibody Isotype
IgG2a
Application
WB, IF, IP

Basic Information

Specificity
Human, Cattle, Dog, Mouse, Rat
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Inositol 1,4,5-Trisphosphate Receptor Type 1
Introduction
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.
Entrez Gene ID
Human3708
Mouse16438
Rat25262
Cattle317697
Dog476548
UniProt ID
HumanQ14643
MouseP11881
RatP29994
CattleQ9TU34
DogF1PW86
Alternative Names
Inositol 1,4,5-Trisphosphate Receptor Type 1
Function
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797).
Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity).
Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity).
Biological Process
Calcium ion transport1 PublicationNAS:UniProtKB
Cell morphogenesisIEA:Ensembl
Endoplasmic reticulum calcium ion homeostasisIEA:Ensembl
Epithelial fluid transportIEA:Ensembl
Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressISS:UniProtKB
Negative regulation of calcium-mediated signalingManual Assertion Based On ExperimentIDA:GO_Central
Post-embryonic developmentIEA:Ensembl
Regulation of autophagyManual Assertion Based On ExperimentTAS:ParkinsonsUK-UCL
Release of sequestered calcium ion into cytosolISS:UniProtKB
Response to hypoxiaManual Assertion Based On ExperimentIDA:BHF-UCL
Signal transduction1 PublicationNAS:UniProtKB
Voluntary musculoskeletal movementIEA:Ensembl
Cellular Location
Endoplasmic reticulum membrane; Cytoplasmic vesicle, secretory vesicle membrane; Cytoplasm, perinuclear region. Endoplasmic reticulum and secretory granules (By similarity).
Involvement in disease
Spinocerebellar ataxia 15 (SCA15):
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.
Spinocerebellar ataxia 29 (SCA29):
An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor.
Gillespie syndrome (GLSP):
A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation.
Topology
Cytoplasmic: 1-2282
Helical: 2283-2303
Lumenal: 2304-2314
Helical: 2315-2335
Cytoplasmic: 2336-2361
Helical: 2362-2382
Lumenal: 2383-2405
Helical: 2406-2426
Cytoplasmic: 2427-2448
Helical: 2449-2469
Lumenal: 2470-2577
Helical: 2578-2598
Cytoplasmic: 2599-2758
PTM
Phosphorylated on tyrosine residues.
Ubiquitination at multiple lysines targets ITPR1 for proteasomal degradation. Approximately 40% of the ITPR1-associated ubiquitin is monoubiquitin, and polyubiquitins are both 'Lys-48'- and 'Lys-63'-linked (By similarity).
Phosphorylated by cAMP kinase (PKA). Phosphorylation prevents the ligand-induced opening of the calcium channels. Phosphorylation by PKA increases the interaction with inositol 1,4,5-trisphosphate and decreases the interaction with AHCYL1.
Palmitoylated by ZDHHC6 in immune cells, leading to regulation of ITPR1 stability and function.

Yao, J., Ni, M., Tian, S., Sun, B., Wang, R., Estillore, J. P., ... & Chen, S. W. (2023). A Gain-of-function Mutation in the Gating Domain of ITPR1 Impairs Motor Movement and Increases Thermal and Mechanical Sensitivity. Neuroscience, 522, 11-22.

Jarius, S., Bräuninger, S., Chung, H. Y., Geis, C., Haas, J., Komorowski, L., ... & Roth, C. (2022). Inositol 1, 4, 5-trisphosphate receptor type 1 autoantibody (ITPR1-IgG/anti-Sj)-associated autoimmune cerebellar ataxia, encephalitis and peripheral neuropathy: review of the literature. Journal of Neuroinflammation, 19(1), 196.

Sun, B., Ni, M., Tian, S., Guo, W., Cai, S., Sondergaard, M. T., ... & Wayne Chen, S. R. (2022). A gain‐of‐function mutation in the ITPR1 gating domain causes male infertility in mice. Journal of cellular physiology, 237(8), 3305-3316.

Peng, D., Li, W., Zhang, B., & Liu, X. (2021). Overexpression of lncRNA SLC26A4‐AS1 inhibits papillary thyroid carcinoma progression through recruiting ETS1 to promote ITPR1‐mediated autophagy. Journal of Cellular and Molecular Medicine, 25(17), 8148-8158.

Kinoshita, A., Ohyama, K., Tanimura, S., Matsuda, K., Kishino, T., Negishi, Y., ... & Yoshiura, K. I. (2021). Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells. Development, 148(16), dev188755.

Yu, M., Lu, W., Cao, Z., & Xuan, T. (2021). LncRNA LINC00662 exerts an oncogenic effect on osteosarcoma by the miR-16-5p/ITPR1 Axis. Journal of oncology, 2021, 1-16.

Stendel, C., Wagner, M., Rudolph, G., & Klopstock, T. (2019). Gillespie's syndrome with minor cerebellar involvement and no intellectual disability associated with a novel ITPR1 mutation: report of a case and literature review. Neuropediatrics, 50(06), 382-386.

Xu, S., Wang, P., Zhang, J., Wu, H., Sui, S., Zhang, J., ... & Pang, D. (2019). Ai-lncRNA EGOT enhancing autophagy sensitizes paclitaxel cytotoxicity via upregulation of ITPR1 expression by RNA-RNA and RNA-protein interactions in human cancer. Molecular cancer, 18(1), 1-18.

Paganini, L., Pesenti, C., Milani, D., Fontana, L., Motta, S., Sirchia, S. M., ... & Miozzo, M. R. (2018). A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. American Journal of Medical Genetics Part A, 176(6), 1427-1431.

Synofzik, M., Helbig, K. L., Harmuth, F., Deconinck, T., Tanpaiboon, P., Sun, B., ... & Schüle, R. (2018). De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. European Journal of Human Genetics, 26(11), 1623-1634.

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For research use only. Not intended for any clinical use.

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