phospholipase C beta 1
| UniProt | Protein Name |
|---|---|
| Q9NQ66 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| G2/M transition of mitotic cell cycle | ||
| signal transduction | ||
| G protein-coupled receptor signaling pathway | ||
| G protein-coupled receptor signaling pathway | ||
| phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway |
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol phospholipase C activity | ||
| phosphatidylinositol phospholipase C activity | ||
| phosphatidylinositol phospholipase C activity | ||
| phosphatidylinositol phospholipase C activity | ||
| phospholipase C activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0080459 | developmental and epileptic encephalopathy 12 |
| HPO ID | HPO Term |
|---|---|
| HP:0004302 | Functional motor deficit |
| HP:0006813 | Focal hemiclonic seizure |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0007359 | Focal-onset seizure |
| HP:0008936 | Axial hypotonia |
| HP:0010821 | Focal emotional seizure with laughing |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0011097 | Epileptic spasm |
| HP:0011121 | Abnormal skin morphology |
| HP:0012448 | Delayed myelination |
| Disease ID | Disease Name |
|---|---|
| ORPHA:3451 |
|
| ORPHA:293181 |
|
| OMIM:613722 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 5330 | SGD:S000006189 | ||
| 5331 | SGD:S000006189 | ||
| 5332 | SGD:S000006189 | ||
| 5333 | SGD:S000006189 | ||
| 5334 | SGD:S000006189 | ||
| 5335 | SGD:S000006189 | ||
| 5336 | SGD:S000006189 | ||
| 9651 | SGD:S000006189 | ||
| 18795 | MOUSE35321 | ||
| 18797 | SGD:S000006189 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025