ITPR1

Also known as ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16

Inositol 1,4,5-trisphosphate receptor type 1 is a protein that in humans is encoded by the ITPR1 gene.

Gene data

ITPR1

Name: inositol 1,4,5-trisphosphate receptor type 1
Type: protein-coding
Position: 4,493,345–4,847,506 (+)
Aliases: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
Ensembl: ENSG00000150995
RefSeq RNA: NM_001099952.4, NM_001168272.2, NM_001378452.1, NM_002222.7
RefSeq protein: NP_001093422.2, NP_001161744.1, NP_001365381.1, NP_002213.5

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].