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MIRAGE
phospholipase C beta 3
Summary
- Gene Symbol
-
- PLCB3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Calcium
- Cytoplasm
- Dwarfism
- Hydrolase
- Lipid degradation
- Membrane
- Nucleus
- Phosphoprotein
- Reference proteome
- Transducer
- Proteins
| UniProt | Protein Name |
|---|---|
| Q01970 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| release of sequestered calcium ion into cytosol |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol phospholipase C activity | ||
| phosphatidylinositol phospholipase C activity | ||
| phospholipase C activity | ||
| calcium ion binding | ||
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase
- Functional Category
-
- I: Lipid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0112303 | spondylometaphyseal dysplasia with corneal dystrophy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000316 | Hypertelorism |
| HP:0000463 | Anteverted nares |
| HP:0000520 | Proptosis |
| HP:0000773 | Short ribs |
| HP:0000774 | Narrow chest |
| HP:0001156 | Brachydactyly |
| HP:0001319 | Neonatal hypotonia |
| HP:0001643 | Patent ductus arteriosus |
| HP:0002643 | Neonatal respiratory distress |
| Disease ID | Disease Name |
|---|---|
| OMIM:618961 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002106
- Gene Name
- phospholipase C, beta 3 (phosphatidylinositol-specific)
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 5330 | SGD:S000006189 | ||
| 5331 | Xenbase:XB-GENE-1008413 | ||
| 5332 | SGD:S000006189 | ||
| 5333 | SGD:S000006189 | ||
| 5334 | SGD:S000006189 | ||
| 5335 | SGD:S000006189 | ||
| 5336 | SGD:S000006189 | ||
| 9651 | SGD:S000006189 | ||
| 18797 | Xenbase:XB-GENE-1008413 | MOUSE27073 | |
| 18799 | SGD:S000006189 |
