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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ITPR1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3708
Official gene symbolITPR1
Full nameinositol 1,4,5-triphosphate receptor, type 1
Aliases,DKFZp313E1334,DKFZp313N1434,INSP3R1,IP3R,IP3R1,SCA15,SCA16,
Gene summaryThis 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]
LocationChromosome: 3   Locus: 3p26-p25
Gene position4535032 - 4889524  Map Viewer
Gene orientationplus
Gene size354493 bp
Gene sequence
OMIM ID147265