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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 |
|---|---|---|
| interleukin-12-mediated signaling pathway | ||
| negative regulation of DNA-templated transcription | ||
| inositol trisphosphate metabolic process | ||
| ion channel modulating, G protein-coupled receptor signaling pathway | ||
| cellular response to vasopressin |
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 Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| enzyme binding | ||
| phospholipase C activity |
|
|
| phosphatidylinositol-4,5-bisphosphate binding | ||
| calcium ion binding | ||
| lamin binding |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060402 | chromosome 17p13.1 deletion syndrome | |
| DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
| DOID:0060551 | poikiloderma with neutropenia | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0080459 | developmental and epileptic encephalopathy 12 | |
| DOID:0080468 | developmental and epileptic encephalopathy 1 | |
| DOID:0080512 | Meier-Gorlin syndrome 1 | |
| DOID:0110035 | Alzheimer's disease 2 | |
| DOID:0110037 | Alzheimer's disease 5 | |
| DOID:0110038 | Alzheimer's disease 6 |
- 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 |
|
| OMIM:613722 |
|
| ORPHA:3451 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000936
- Gene Name
- phospholipase C, beta 1 (phosphoinositide-specific)
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 102529315 | VICPA00297 | ||
| 112158335 | ORYME16695 | ||
| 101065367 | TAKRU14042 | ||
| 102020797 | CHILA04920 | ||
| 105719088 | AOTNA04880 | ||
| 101047168 | SAIBB21825 | ||
| 111240392 | SERDU01521 | ||
| 108423552 | PYGNA04390 | ||
| 101954421 | ICTTR08186 | ||
| 103148043 | POEFO17138 |
