PLCL1: Phospholipase C Like 1 (Inactive)
A catalytically inactive phospholipase C family member implicated in synaptic signaling and neuropsychiatric disorders.
Gene Information Card
| Symbol | PLCL1 |
|---|---|
| Full Name | phospholipase C like 1 (inactive) |
| Gene Type | protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 5334 ncbi.nlm.nih.gov/gene/5334 |
| Ensembl ID | ENSG00000115896 |
| UniProt ID | Q15111 |
| OMIM ID | 604895 |
| HGNC ID | 9063 |
| Aliases | PLCE2, PLCL, PLC-L, PLC-L2, PLCL2 |
Description
PLCL1 encodes a protein that belongs to the phospholipase C family but lacks catalytic activity due to critical amino acid substitutions in the active site. It functions as a scaffold protein, modulating intracellular calcium signaling and synaptic vesicle dynamics. PLCL1 is highly expressed in brain and is involved in neurotransmitter release, learning, and memory. Genetic variants have been associated with bipolar disorder, schizophrenia, and major depressive disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar Disorder | Altered PLCL1 expression may disrupt calcium signaling and synaptic plasticity in prefrontal cortex. | GWAS association (PMID: 21926972) |
| Schizophrenia | PLCL1 variants linked to altered glutamatergic signaling and dendritic spine density. | Case-control studies (PMID: 22472876) |
| Major Depressive Disorder | Reduced PLCL1 expression in hippocampus may impair neurogenesis and stress response. | Expression QTL analysis (PMID: 25644384) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain - Cortex | 12.5 | Medium |
| Brain - Cerebellum | 10.8 | Medium |
| Testis | 6.2 | Low |
| Heart - Left Ventricle | 3.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| U87MG (glioblastoma) | 6.7 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% (gnomAD) | May alter protein stability and scaffold function |
| c.567G>A (p.Glu189Lys) | Missense | 0.002% (gnomAD) | Located in PH domain; potential impact on membrane binding |
| c.890_892del (p.Glu297del) | In-frame deletion | <0.001% | Reported in bipolar disorder cohort |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity (inactive) | • calcium ion binding |
| • phosphatidylinositol binding | • signal transduction |
| • synaptic vesicle exocytosis | • nervous system development |
Pathways
• Phospholipase C signaling
• Calcium signaling pathway
• Synaptic vesicle cycle
Protein Summary
PLCL1 is a 1095-amino acid protein with a pleckstrin homology (PH) domain, EF-hand motifs, and a C2 domain, but lacks catalytic residues essential for phosphoinositide hydrolysis. It acts as a scaffold that interacts with G protein subunits and other signaling molecules to regulate calcium-dependent processes. In neurons, PLCL1 modulates neurotransmitter release and receptor trafficking. Its expression is enriched in brain regions involved in mood and cognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCL1 Knockout HEK293 Cell Line | EDJ-KQ5478 | Human | 5334 | Details Get a Quote |
| PLCL1 Knockout HeLa Cell Line | EDJ-KQ28694 | Human | 5334 | Details Get a Quote |
| PLCL1 Knockout A-549 Cell Line | EDJ-KQ62647 | Human | 5334 | Details Get a Quote |
| PLCL1 Knockout HCT 116 Cell Line | EDJ-KQ71114 | Human | 5334 | Details Get a Quote |
