Recombinant Human Inositol 1,4,5-trisphosphate receptor type 1 (ITPR1), Truncated

Uniprot Id

Q14643

Target Species

Human

Target Name

ITPR1

Target Full Name

Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1

Target Function

Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1. 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.

Target Involvement

Spinocerebellar ataxia 15 (SCA15); Spinocerebellar ataxia 29 (SCA29); Gillespie syndrome (GLSP)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle membrane; Multi-pass membrane protein. Cytoplasm, perinuclear region.

Target Protein Families

InsP3 receptor family

Target Tissue Specificity

Widely expressed.

Target Synonyms

4; 5-trisphosphate receptor; 5-trisphosphate receptor type 1; DKFZp313E1334; DKFZp313N1434; inositol 1 4 5 triphosphate receptor type 1; Inositol 1 4 5 trisphosphate Receptor Type 1; Inositol 1; InsP3R1; IP3; IP3 receptor; IP3 receptor isoform 1; IP3R 1; IP3R; IP3R1; ITPR 1; Itpr1; ITPR1_HUMAN; SCA15; SCA16; SCA29; Type 1 inositol 1 4 5 trisphosphate receptor; Type 1 inositol 1; Type 1 InsP3 receptor

Target Background

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.