ITPR1 Back

inositol 1,4,5-triphosphate receptor, type 1

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NCBI Description of ITPR1
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.

Community Annotation of ITPR1 Add / Edit ITPR1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ITPR1 is highly significantly mutated in
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ITPR1 is significantly mutated in
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ITPR1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ITPR1