| Primary Identifier | MGI:96623 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 16438 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels; phosphatidylinositol binding activity; and protein domain specific binding activity. Involved in several processes, including G protein-coupled receptor signaling pathway; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and positive regulation of insulin secretion. Acts upstream of or within several processes, including calcium-mediated signaling; intracellular calcium ion homeostasis; and voluntary musculoskeletal movement. Located in endoplasmic reticulum; nucleus; and postsynaptic density. Part of calcineurin complex. Is active in Schaffer collateral - CA1 synapse. Is expressed in several structures, including brain; brown fat; genitourinary system; heart; and hemolymphoid system. Human ortholog(s) of this gene implicated in Gillespie syndrome; spinocerebellar ataxia type 15; and spinocerebellar ataxia type 29. Orthologous to human ITPR1 (inositol 1,4,5-trisphosphate receptor type 1). PHENOTYPE: Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
