ITPR1
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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:147265 Ensembl IDEnsembl:ENSG00000150995 HGNC IDHGNC:HGNC:6180 PHARMGKB IDPA29978 Map Location3p26.1 | |||||
GO terms in ITPR1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
| MF | ISS | GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
| MF | TAS | GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
| MF | IBA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0015085 | calcium ion transmembrane transporter activity |
Gene expression in normal tissue: ITPR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ITPR1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-111885 | Opioid Signalling |
| reactome | R-HSA-112040 | G-protein mediated events |
| reactome | R-HSA-112043 | PLC beta mediated events |
| reactome | R-HSA-114508 | Effects of PIP2 hydrolysis |
| reactome | R-HSA-1280218 | Adaptive Immune System |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ITPR1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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