IP3 receptor ist ein Gen, das durch das Symbol ITPR1 kodiert wird. Im Allgemeinen auch bezeichnet als: Inositol 1,4,5-trisphosphate receptor type 1 isoform 1; IP3R 1; Type 1 inositol 1,4,5-trisphosphate receptor; Type 1 InsP3 receptor; ITPR1; INSP3R1. IP3 receptor hat eine Masse von 313.93kDa, eine Aminosäurelänge von 2758, und ist an folgenden Krankheiten beteiligt: Spinocerebellar ataxia 15; Spinocerebellar ataxia 29; Gillespie syndrome.
Wir bieten 12 antikörper gegen IP3 receptor, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus, Ratte, Rind und Affe.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Widely expressed.
Rolle bei Krankheiten
Spinocerebellar ataxia 15: 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: 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: A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation.
Sequenzähnlichkeiten
Belongs to the InsP3 receptor family.
Posttranslationale Modifikation
Phosphorylated on tyrosine residues.
Zellort
Endoplasmic reticulum membrane. Cytoplasmic vesicle > Secretory vesicle membrane. Cytoplasm > Perinuclear region.
Endoplasmic reticulum and secretory granules (By similarity).
