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PLCB4
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction. Defects in PLCB4 are the cause of auriculocondylar syndrome type 2 (ARCND2). ARCND2 is an autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: EC 3.1.4.11; Carbohydrate Metabolism - inositol phosphate; Phospholipase |
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Cellular Component: smooth endoplasmic reticulum; postsynaptic density; nucleus; cytosol
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Molecular Function: signal transducer activity; mitogen-activated protein kinase binding; calcium ion binding; phosphoinositide phospholipase C activity; phospholipase C activity
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Biological Process: negative regulation of potassium ion transport; lipid catabolic process
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Reference #:
Q15147 (UniProtKB)
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| Alt. Names/Synonyms: 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate; 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 4; 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4; dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4)); FLJ16169; inositoltrisphosphohydrolase; monophosphatidylinositol phosphodiesterase; phosphoinositidase C; phosphoinositide phospholipase C; Phosphoinositide phospholipase C-beta-4; phospholipase C, beta 4; Phospholipase C-beta-4; PI-PLC; PLC-beta-4; PLCB4; triphosphoinositide phosphodiesterase |
| Gene Symbols: PLCB4 |
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Molecular weight: 134,464 Da
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Basal Isoelectric point: 6.47
Predict pI for various phosphorylation states
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CST Pathways:
AMPK Signaling
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ErbB/HER Signaling
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GPCRs Signaling to MAPK/Erk
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Regulation of Actin Dynamics
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