PLCG1: Phospholipase C Gamma 1
A key signaling enzyme in immune receptor and growth factor pathways, implicated in autoimmunity and cancer.
Gene Information Card
| Symbol | PLCG1 |
|---|---|
| Full Name | Phospholipase C Gamma 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q12 |
| NCBI Gene ID | 5335 ncbi.nlm.nih.gov/gene/5335 |
| Ensembl ID | ENSG00000124181 |
| UniProt ID | P19174 |
| OMIM ID | 172420 |
| HGNC ID | 9065 |
| Aliases | PLC1, PLCII, PLC-gamma-1, PLCgamma1 |
Description
PLCG1 encodes phospholipase C gamma 1, an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate (PIP2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). It is activated by receptor tyrosine kinases and immune receptors, playing a critical role in T-cell receptor signaling, B-cell receptor signaling, and growth factor pathways. Mutations in PLCG1 are associated with autoinflammatory diseases and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoinflammatory syndrome, familial, with or without immunodeficiency | Gain-of-function mutations lead to constitutive PLCG1 activation, causing aberrant immune signaling and inflammation. | ClinVar, OMIM |
| T-cell lymphoma (angioimmunoblastic) | Recurrent gain-of-function mutations (e.g., S345F) drive PLCG1 hyperactivation, promoting T-cell proliferation and survival. | COSMIC, NCBI |
| Chronic lymphocytic leukemia | Somatic mutations in PLCG1 contribute to B-cell receptor pathway dysregulation. | COSMIC, ClinVar |
| Colorectal cancer | Altered PLCG1 expression and mutations implicated in tumor progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 9.2 | Medium |
| Bone marrow | 7.1 | Low |
| Lung | 6.3 | Low |
| Brain | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression; model for T-cell signaling |
| Raji (Burkitt lymphoma) | 11.8 | High expression; B-cell line |
| HEK293 (embryonic kidney) | 8.4 | Moderate expression |
| HeLa (cervical carcinoma) | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| S345F | Missense | Recurrent in T-cell lymphoma | Gain-of-function; increased PLC activity |
| R48W | Missense | Rare in autoinflammatory syndrome | Gain-of-function; enhanced signaling |
| D1165H | Missense | Sporadic in CLL | Likely gain-of-function |
| E1163K | Missense | Reported in colorectal cancer | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in human disease.
Gain of Function (GOF)
S345F, R48W, and other hotspot mutations increase PLCG1 enzymatic activity, leading to sustained IP3/DAG signaling.
Dominant Negative (DN)
Not described for PLCG1.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • calcium ion binding |
| • phosphatidylinositol phospholipase C activity | • signal transduction |
| • T cell receptor signaling pathway | • B cell receptor signaling pathway |
| • cell proliferation | • apoptotic process |
Pathways
• T cell receptor signaling pathway (KEGG hsa04660)
• B cell receptor signaling pathway (KEGG hsa04662)
• Fc epsilon RI signaling pathway (KEGG hsa04664)
• VEGF signaling pathway (KEGG hsa04370)
• Phospholipase C signaling (Reactome R-HSA-1855204)
Protein Summary
PLCG1 is a 1290-amino acid protein containing SH2, SH3, and PH domains, along with a catalytic TIM barrel. It is activated by tyrosine phosphorylation at Y771, Y783, and Y1254. The enzyme converts PIP2 into IP3 (mobilizes intracellular calcium) and DAG (activates protein kinase C). It is essential for lymphocyte development and immune responses. Dysregulation via gain-of-function mutations contributes to autoimmunity and lymphomagenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCG1 Knockout HEK293 Cell Line | EDJ-KQ582 | Human | 5335 | Details Get a Quote |
| PLCG1 Knockout HeLa Cell Line | EDJ-KQ18033 | Human | 5335 | Details Get a Quote |
| PLCG1 Knockout A-549 Cell Line | EDJ-KQ19000 | Human | 5335 | Details Get a Quote |
| PLCG1 Knockout HCT 116 Cell Line | EDJ-KQ19001 | Human | 5335 | Details Get a Quote |
| PLCG1 Knockout HAP1 Cell Line | EDC08248 | Human | 5335 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
