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phospholipase C beta 1
Summary
- Gene Symbol
-
- PLCB1
- Aliases
-
- KIAA0581
- PLC-I
- PLC154
- phosphoinositide phospholipase C
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Calcium
- Cytoplasm
- Epilepsy
- Hydrolase
- Lipid degradation
- Membrane
- Nucleus
- Palmitate
- Phosphoprotein
- Reference proteome
- Transducer
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9NQ66 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| negative regulation of transcription, DNA-templated | ||
| ion channel modulating, G protein-coupled receptor signaling pathway | ||
| positive regulation of DNA-templated transcription | ||
| glutamate receptor signaling pathway | ||
| inositol trisphosphate metabolic process |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of immune system process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
negative regulation of metabolic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of primary metabolic process [inference]
regulation of signaling [inference]
regulation of localization [inference]
regulation of locomotion [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
signal transduction
regulation of cell communication [inference]
regulation of cellular metabolic process [inference]
positive regulation of cellular process [inference]
negative regulation of cellular process [inference]
regulation of cell cycle [inference]
regulation of cell motility [inference]
regulation of multicellular organismal process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| nuclear speck | ||
| glutamatergic synapse | ||
| protein-containing complex | ||
| nuclear membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| calcium ion binding | ||
| protein binding | ||
| lamin binding | ||
| enzyme binding | ||
| phosphatidylinositol-4,5-bisphosphate binding |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0080459 | developmental and epileptic encephalopathy 12 | |
| DOID:10652 | Alzheimer's disease | |
| DOID:5419 | schizophrenia | |
| DOID:5844 | myocardial infarction | |
| DOID:9119 | acute myeloid leukemia | |
| DOID:9970 | obesity |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000505 | Visual impairment |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000826 | Precocious puberty |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0001276 | Hypertonia |
| HP:0001336 | Myoclonus |
| Disease ID | Disease Name |
|---|---|
| ORPHA:293181 |
|
| ORPHA:3451 |
|
| OMIM:613722 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000936
- Gene Name
- phospholipase C, beta 1 (phosphoinositide-specific)
