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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 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 |
|---|---|---|
| protein binding | ||
| phosphatidylinositol phospholipase C activity | ||
| GTPase activator activity | ||
| calmodulin binding | ||
| identical protein binding |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050562 | West syndrome | |
| DOID:0050709 | early infantile epileptic encephalopathy | |
| DOID:0050742 | nicotine dependence | |
| DOID:0050759 | myotonic dystrophy type 2 | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0050848 | obstructive sleep apnea | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060306 | Meier-Gorlin syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001347 | Hyperreflexia |
| HP:0001508 | Failure to thrive |
| HP:0002059 | Cerebral atrophy |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002376 | Developmental regression |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0002521 | Hypsarrhythmia |
| HP:0002540 | Inability to walk |
| HP:0002650 | Scoliosis |
| HP:0003593 | Infantile onset |
| 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 |
|---|---|---|---|
| 102432706 | MYOLU17480 | ||
| 117015870 | RHIFE23989 | ||
| 100219122 | TAEGU22258 | ||
| 103246657 | CHLSB07727 | ||
| 108527553 | RHIBE23738 | ||
| 104668296 | RHIRO39075 | ||
| 100597115 | NOMLE02820 | ||
| 114593658 | PODMU16879 | ||
| 105299444 | PTEVA15633 | ||
| 115037695 | ECHNA30864 |
