PLCE1 Gene: Phospholipase C Epsilon 1
Comprehensive genomic and functional analysis of PLCE1, a key regulator of intracellular signaling linked to nephrotic syndrome and cancer.
Gene Information Card
| Symbol | PLCE1 |
|---|---|
| Full Name | phospholipase C epsilon 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 51196 ncbi.nlm.nih.gov/gene/51196 |
| Ensembl ID | ENSG00000138193 |
| UniProt ID | Q9P212 |
| OMIM ID | 608414 |
| HGNC ID | 17175 |
| Aliases | NPHS3, PLCE, PPLC, FLJ10580, FLJ11015 |
Description
PLCE1 (phospholipase C epsilon 1) encodes a member of the phospholipase C family that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). This enzyme is activated by Ras and other small GTPases, linking receptor tyrosine kinases and G protein-coupled receptors to intracellular calcium and protein kinase C signaling. PLCE1 is critical for kidney podocyte function and is implicated in hereditary nephrotic syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome type 3 (NPHS3) | Loss-of-function mutations in PLCE1 disrupt podocyte signaling, leading to proteinuria and renal failure. | OMIM #610725; ClinVar; PMID: 16415883 |
| Diffuse mesangial sclerosis | Biallelic PLCE1 mutations cause early-onset nephrotic syndrome with glomerular sclerosis. | OMIM #610725; PMID: 16415883 |
| Esophageal squamous cell carcinoma | PLCE1 overexpression and amplification promote tumor growth via Ras-MAPK pathway activation. | COSMIC; PMID: 23535731 |
| Gastric cancer | PLCE1 variants and altered expression associated with increased risk and progression. | COSMIC; PMID: 23535731 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Testis | 15.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.2 | Embryonic kidney cells; high expression |
| A549 | 9.8 | Lung carcinoma; moderate expression |
| MCF7 | 5.4 | Breast cancer; low expression |
| HepG2 | 3.1 | Liver cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3286C>T (p.Arg1096*) | Nonsense | Rare | Loss of function; truncation of catalytic domain; associated with nephrotic syndrome |
| c.3469G>A (p.Asp1157Asn) | Missense | Rare | Loss of function; reduced phospholipase activity; reported in NPHS3 |
| c.4490T>C (p.Leu1497Pro) | Missense | Rare | Likely loss of function; disrupts Ras-binding domain |
| Amplification (copy number gain) | Copy number variation | Frequent in esophageal cancer | Gain of function; increased PLCE1 expression and signaling |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg1096*, p.Asp1157Asn) that truncate or impair the catalytic or regulatory domains, leading to reduced IP3/DAG production and disrupted podocyte signaling.
Gain of Function (GOF)
Gene amplification and overexpression in esophageal and gastric cancers enhance Ras-MAPK pathway activation, promoting cell proliferation.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with wild-type PLCE1 function in heterozygous state, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • phosphatidylinositol phospholipase C activity |
| • calcium ion binding | • Ras GTPase binding |
| • signal transduction | • intracellular signal transduction |
| • inositol phosphate metabolic process | • lipid catabolic process |
| • cell proliferation | • kidney development |
Pathways
• Phospholipase C signaling pathway
• Ras signaling pathway
• Calcium signaling pathway
• MAPK signaling pathway
• VEGF signaling pathway
Protein Summary
PLCE1 is a 2302-amino acid multidomain protein containing a catalytic core (X and Y domains), a C2 domain, two Ras-associating (RA) domains, and a pleckstrin homology (PH) domain. It is activated by Ras, Rap, and G protein subunits, converting PIP2 into IP3 and DAG. This enzyme is essential for podocyte function in the kidney and modulates cell growth, differentiation, and migration. Mutations cause nephrotic syndrome, while overexpression contributes to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCE1 Knockout HEK293 Cell Line | EDJ-KQ1279 | Human | 51196 | Details Get a Quote |
| PLCE1 Knockout A-549 Cell Line | EDJ-KQ20668 | Human | 51196 | Details Get a Quote |
| PLCE1 Knockout HCT 116 Cell Line | EDJ-KQ20669 | Human | 51196 | Details Get a Quote |
| PLCE1 Knockout HeLa Cell Line | EDJ-KQ20670 | Human | 51196 | Details Get a Quote |
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