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ITPR1

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Microglial cells)

Immune cell specificity

Immune cell enhanced (naive B-cell)

Cell line specificity

Cell line enhanced (HDLM-2, HEL, HeLa, HMC-1, U-87 MG)

Interaction

Homotetramer (By similarity). Interacts with TRPC4 (By similarity). 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 IRAG1 (PubMed:16990611). Interacts with CABP1 (via N-terminus) (PubMed:12032348, PubMed:14685260). Interacts with TESPA1. Interacts (when not phosphorylated) with AHCYL1 (when phosphorylated); the interaction suppresses inositol 1,4,5-trisphosphate binding to ITPR1 and is increased in the presence of BCL2L10 (PubMed:16793548, PubMed:27995898). Interacts with AHCYL2 (with lower affinity than with AHCYL1) (PubMed:19220705). Interacts with BCL2L10; the interaction is increased in the presence of AHCLY1 (PubMed:27995898). Interacts with BOK (via BH4 domain); protects ITPR1 from proteolysis by CASP3 during apoptosis (PubMed:23884412).

Molecular function

Calcium channel, Ion channel, Ligand-gated ion channel, Receptor

More Types Infomation

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