Aliases for ITPR1 Gene
- Inositol 1,4,5-Trisphosphate Receptor Type 1 2 3
- Inositol 1,4,5-Trisphosphate Receptor, Type 1 2 3 5
- Type 1 Inositol 1,4,5-Trisphosphate Receptor 3 4
- Type 1 InsP3 Receptor 3 4
- INSP3R1 3 4
- IP3R 1 3 4
- Inositol 1,4,5-Triphosphate Receptor, Type 1 3
- Protein Phosphatase 1, Regulatory Subunit 94 3
- Spinocerebellar Ataxia 15 2
- Spinocerebellar Ataxia 16 2
- Spinocerebellar Ataxia 29 2
- IP3 Receptor Isoform 1 4
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 29, congenital nonprogressive and spinocerebellar ataxia 15. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include ion channel activity and 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. 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).
Inositol 1,4,5-trisphosphate (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.