ITPR1, Official Symbol ITPR1provided by HGNC Official Full Name inositol 1,4,5-trisphosphate receptor type 1provided by HGNC Primary source HGNC:HGNC:6180 See related Ensembl:ENSG00000150995 MIM:147265; AllianceGenome:HGNC:6180 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACV; CLA4; IP3R; IP3R1; SCA15; SCA16; SCA29; INSP3R1; PPP1R94 Summary 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] Expression Ubiquitous expression in thyroid (RPKM 15.8), brain (RPKM 10.9) and 22 other tissues See more Orthologs mouse all