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MIRAGE
inositol 1,4,5-trisphosphate receptor type 1
Summary
- Gene Symbol
-
- ITPR1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- ATP-binding
- Alternative splicing
- Apoptosis
- Calcium channel
- Cytoplasm
- Cytoplasmic vesicle
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Intellectual disability
- Isopeptide bond
- Ligand-gated ion channel
- Membrane
- Metal-binding
- Palmitate
- Phosphoprotein
- Receptor
- Reference proteome
- Repeat
- Spinocerebellar ataxia
- Transmembrane helix
- Ubl conjugation
- Zinc
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| single fertilization | ||
| release of sequestered calcium ion into cytosol | ||
| calcium import into the mitochondrion | ||
| regulation of autophagy | ||
| cell morphogenesis |
GO Hierarchy
biological process
cellular process [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nuclear inner membrane | ||
| platelet dense granule membrane | ||
| endoplasmic reticulum | ||
| transport vesicle membrane | ||
| plasma membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| ATP binding | ||
| calcium ion transmembrane transporter activity | ||
| inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels | ||
| protein domain specific binding | ||
| calcium-release channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- inositol 1,4,5-trisphosphate receptor
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| InterPro |
|---|
| Inositol 1,4,5-trisphosphate receptor |
| MIR motif |
| RIH domain |
| Ryanodine/Inositol 1,4,5-trisphosphate receptor |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050965 | spinocerebellar ataxia type 15 | |
| DOID:0050978 | spinocerebellar ataxia type 29 | |
| DOID:0060319 | cardiac arrest | |
| DOID:0111578 | Gillespie syndrome | |
| DOID:10591 | pre-eclampsia | |
| DOID:10652 | Alzheimer's disease | |
| DOID:11714 | gestational diabetes | |
| DOID:12858 | Huntington's disease | |
| DOID:12930 | dilated cardiomyopathy | |
| DOID:1441 | autosomal dominant cerebellar ataxia |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 16438 | MGI:96623 | MOUSE49714 | ||
| 25262 | RGD:2933 | RATNO32094 | ||
| 40664 | FB:FBgn0010051 | |||
| 177546 | WB:WBGene00002173 | |||
| 317697 | BOVIN17442 | |||
| 397454 | PIGXX04492 | |||
| 399254 | Xenbase:XB-GENE-920773 | |||
| 460134 | 9598_0:0010f1 | PANTR30309 | ||
| 476548 | CANLF07320 | |||
| 567611 | ZFIN:ZDB-GENE-070604-3 |
