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.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
IHC-P
Human, Mouse, Rat
1:100-500
IHC-F
Human, Mouse, Rat
1:100-500
IF
Human, Mouse, Rat
1:100-500
交叉反应
交叉反应: Human, Mouse, Rat
相关产品
暂无相关产品
靶标
基因名
ITPR1
蛋白名
Inositol 1, 4, 5-trisphosphate receptor type 1
亚基
Homotetramer. Interacts with TRPC4. The PPXXF motif binds HOM1, HOM2 and HOM3. Interacts with RYR1, RYR2, ITPR1, SHANK1 and SHANK3. Interacts with ERP44 in a pH-, redox state- and calcium-dependent manner which results in the inhibition the calcium channel activity. The strength of this interaction inversely correlates with calcium concentration. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Interacts with AHCYL1 (By similarity). Interacts with MRVI1 and CABP1 (via N-terminus).
亚细胞定位
Endoplasmic reticulum membrane.
组织特异性
Widely expressed.
翻译后修饰
Phosphorylated by cAMP kinase. Phosphorylation prevents the ligand-induced opening of the calcium channels.
Phosphorylated on tyrosine residues.
疾病
Defects in ITPR1 are the cause of spinocerebellar ataxia type 15 (SCA15) (SCA15) [MIM:606658]. 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.
相似性
Belongs to the InsP3 receptor family.
Contains 5 MIR domains.
功能
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate.