Aliases for ITPR1 Gene
- Inositol 1,4,5-Trisphosphate Receptor, Type 1 2 3
- Type 1 Inositol 1,4,5-Trisphosphate Receptor 3 4
- Type 1 InsP3 Receptor 3 4
- INSP3R1 3 4
- IP3R 1 3 4
- SCA15 3 6
- SCA16 3 6
- SCA29 3 6
- Inositol 1,4,5-Triphosphate Receptor, Type 1 3
- Inositol 1,4,5-Trisphosphate Receptor Type 1 3
- Protein Phosphatase 1, Regulatory Subunit 94 3
- Spinocerebellar Ataxia 15 2
External Ids for ITPR1 Gene
Previous HGNC Symbols for ITPR1 Gene
Previous GeneCards Identifiers for ITPR1 Gene
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. [provided by RefSeq, Nov 2009]
GeneCards Summary for ITPR1 Gene
ITPR1 (Inositol 1,4,5-Trisphosphate Receptor, Type 1) is a Protein Coding gene. Diseases associated with ITPR1 include spinocerebellar ataxia 15 and spinocerebellar ataxia 29, congenital nonprogressive. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include phosphatidylinositol binding and intracellular ligand-gated calcium channel activity. An important paralog of this gene is RYR1.
UniProtKB/Swiss-Prot for ITPR1 Gene
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. 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).
Inositol 1,4,5-triphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum, and mediate the mobilization of intracellular Ca2+ stores. IP3 receptors play an important role in intracellular Ca2+ signaling in a variety of cell types. There are three IP3 receptor subtypes; IP3R1, IP3R2 and IP3R3, which exist as homo- and heterotetramers. All subtypes are closely associated with calmodulin and FK506-binding protein and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.