Aliases for ITPR1 Gene
- Inositol 1,4,5-Trisphosphate Receptor Type 1 2 3 4 5
- Type 1 Inositol 1,4,5-Trisphosphate Receptor 3 4
- Protein Phosphatase 1, Regulatory Subunit 94 2 3
- Type 1 InsP3 Receptor 3 4
- INSP3R1 3 4
- IP3R 1 3 4
- Inositol 1,4,5-Trisphosphate Receptor, Type 1 2
- Inositol 1,4,5-Triphosphate Receptor, Type 1 3
- Spinocerebellar Ataxia 15 2
- Spinocerebellar Ataxia 16 2
- Spinocerebellar Ataxia 29 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. Among its related pathways are Signaling by GPCR and Oxytocin signaling pathway. Gene Ontology (GO) annotations related to this gene include ion channel activity and calcium channel activity. An important paralog of this gene is ITPR2.
UniProtKB/Swiss-Prot Summary for ITPR1 Gene
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). 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.