PLCB1: Phospholipase C Beta 1
A key signaling enzyme in phosphoinositide metabolism, implicated in neurological disorders and cancer
Gene Information Card
| Symbol | PLCB1 |
|---|---|
| Full Name | phospholipase C beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 23236 ncbi.nlm.nih.gov/gene/23236 |
| Ensembl ID | ENSG00000101247 |
| UniProt ID | Q9NQ66 |
| OMIM ID | 607120 |
| HGNC ID | 9055 |
| Aliases | PLC-beta-1, PLC-154, PI-PLC, PLCB1A, PLCB1B |
Description
PLCB1 encodes phospholipase C beta 1, an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate (PIP2) to generate the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). This gene is involved in G protein-coupled receptor signaling and plays critical roles in neuronal development, synaptic plasticity, and cell proliferation. Mutations in PLCB1 are associated with infantile epileptic encephalopathy and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 12 (DEE12) | Loss-of-function mutations impair PIP2 hydrolysis, disrupting neuronal calcium signaling and synaptic transmission | OMIM #617816; ClinVar |
| Schizophrenia | Rare variants and altered expression may affect dopaminergic and glutamatergic signaling pathways | NCBI Gene; PubMed studies |
| Cancer (e.g., breast, prostate, colorectal) | Dysregulated PLCB1 expression or activity alters cell proliferation and migration via IP3/DAG signaling | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 10.8 | High |
| Testis | 6.2 | Medium |
| Heart | 3.1 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 8.7 | Common overexpression system |
| MCF7 (breast cancer) | 5.4 | Hormone-responsive |
| HepG2 (liver cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1786C>T (p.Arg596*) | Nonsense | Rare | Loss of function; truncation of catalytic domain |
| c.2032G>A (p.Gly678Arg) | Missense | Rare | Likely loss of function; disrupts active site |
| c.2540T>C (p.Leu847Pro) | Missense | Rare | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in the catalytic domain reduce or abolish PIP2 hydrolysis, leading to impaired neuronal signaling and epileptic encephalopathy.
Gain of Function (GOF)
Not well-documented; some cancer-associated variants may increase activity, but evidence is limited.
Dominant Negative (DN)
Not reported for PLCB1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004435 - phosphatidylinositol phospholipase C activity | • GO:0004871 - G protein-coupled receptor activity |
| • GO:0005515 - protein binding | • GO:0005737 - cytoplasm |
| • GO:0005886 - plasma membrane | • GO:0007165 - signal transduction |
| • GO:0016020 - membrane | • GO:0035556 - intracellular signal transduction |
Pathways
• Phospholipase C beta signaling pathway (Reactome: R-HSA-1855204)
• G alpha (q) signaling events (Reactome: R-HSA-416476)
• Calcium signaling pathway (KEGG: hsa04020)
• Inositol phosphate metabolism (KEGG: hsa00562)
Protein Summary
Phospholipase C beta 1 (PLC-beta-1) is a 1216-amino acid protein that catalyzes the hydrolysis of PIP2 into IP3 and DAG. It contains a pleckstrin homology (PH) domain, EF-hand motifs, catalytic X and Y domains, and a C-terminal C2 domain. PLCB1 is activated by G alpha q subunits and is essential for calcium mobilization and protein kinase C activation. The protein is predominantly expressed in the brain and plays a key role in neuronal excitability and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCB1 Knockout HEK293 Cell Line | EDJ-KQ319 | Human | 23236 | Details Get a Quote |
| PLCB1 Knockout A-549 Cell Line | EDJ-KQ18465 | Human | 23236 | Details Get a Quote |
| PLCB1 Knockout HCT 116 Cell Line | EDJ-KQ18466 | Human | 23236 | Details Get a Quote |
| PLCB1 Knockout HeLa Cell Line | EDJ-KQ18467 | Human | 23236 | Details Get a Quote |
| PLCB1 Knockout HAP1 Cell Line | EDC08161 | Human | 23236 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
