PLCD1 Gene - Phospholipase C Delta 1
Key regulator of phosphoinositide signaling and calcium homeostasis
Gene Information Card
| Symbol | PLCD1 |
|---|---|
| Full Name | Phospholipase C Delta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.2 |
| NCBI Gene ID | 5333 ncbi.nlm.nih.gov/gene/5333 |
| Ensembl ID | ENSG00000187091 |
| UniProt ID | P51178 |
| OMIM ID | 602142 |
| HGNC ID | 9060 |
| Aliases | PLC-delta-1, PLC-III |
Description
PLCD1 encodes phospholipase C delta 1, an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol, regulating intracellular calcium release and protein kinase C activation. It is involved in cell proliferation, differentiation, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukonychia totalis | Impaired calcium signaling in nail keratinocytes | OMIM #151600 |
| Esophageal squamous cell carcinoma | Reduced PLCD1 expression promotes tumor growth | PubMed 23431173 |
| Hepatocellular carcinoma | Epigenetic silencing of PLCD1 contributes to cancer progression | PubMed 25655958 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| HepG2 | 5.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Cys) | Missense | Rare | Altered catalytic activity |
| c.1720G>A (p.Gly574Ser) | Missense | Rare | Reduced enzyme activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain reduce or abolish phospholipase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • calcium ion binding |
| • phosphatidylinositol phospholipase C activity | • signal transduction |
| • intracellular calcium release |
Pathways
• Phospholipase C signaling pathway
• Calcium signaling pathway
• Inositol phosphate metabolism
Protein Summary
PLCD1 is a 756-amino acid protein containing pleckstrin homology (PH) domain, EF-hand domain, catalytic TIM barrel domain, and C2 domain. It is activated by calcium and translocates to the plasma membrane to hydrolyze PIP2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCD1 Knockout HEK293 Cell Line | EDJ-KQ1615 | Human | 5333 | Details Get a Quote |
| PLCD1 Knockout A-549 Cell Line | EDJ-KQ21306 | Human | 5333 | Details Get a Quote |
| PLCD1 Knockout HCT 116 Cell Line | EDJ-KQ21307 | Human | 5333 | Details Get a Quote |
| PLCD1 Knockout HeLa Cell Line | EDJ-KQ21308 | Human | 5333 | Details Get a Quote |
