PLCZ1 Gene: Phospholipase C Zeta 1
Key regulator of calcium oscillations in mammalian fertilization
Gene Information Card
| Symbol | PLCZ1 |
|---|---|
| Full Name | Phospholipase C Zeta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 89869 ncbi.nlm.nih.gov/gene/89869 |
| Ensembl ID | ENSG00000139151 |
| UniProt ID | Q86YW0 |
| OMIM ID | 608075 |
| HGNC ID | 19237 |
| Aliases | PLCzeta, PLCZ |
Description
The PLCZ1 gene encodes phospholipase C zeta 1, a sperm-specific enzyme that triggers calcium oscillations in the egg upon fertilization. It is the smallest known mammalian phospholipase C isoform and lacks a pleckstrin homology domain. PLCZ1 is essential for egg activation and early embryonic development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility due to sperm fertilization failure | Loss-of-function mutations in PLCZ1 impair calcium release, preventing egg activation | ClinVar, OMIM |
| Oocyte activation deficiency | Absent or reduced PLCZ1 protein leads to failed calcium oscillations | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM not available; RNA-seq shows testis-specific expression) |
| Sperm | N/A | High protein expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | Primary site of expression |
| Testicular cells | N/A | Detected in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Loss of catalytic activity |
| c.588_590del (p.Ile197del) | Deletion | Rare | Impaired calcium oscillation induction |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Reduced phospholipase activity |
Mutation functional classification
Loss of Function (LOF)
Most reported PLCZ1 mutations are loss-of-function, reducing or abolishing calcium oscillation activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not documented; mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol signaling system
• Calcium signaling pathway
• Fertilization
Protein Summary
Phospholipase C zeta 1 (PLCZ1) is a 608-amino acid protein expressed exclusively in sperm. It catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate inositol 1,4,5-trisphosphate (IP3) and diacylglycerol, leading to calcium release from intracellular stores. This calcium oscillation is the primary signal for egg activation and initiation of embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCZ1 Knockout HEK293 Cell Line | EDJ-KQ1618 | Human | 89869 | Details Get a Quote |
| PLCZ1 Knockout HeLa Cell Line | EDJ-KQ57745 | Human | 89869 | Details Get a Quote |
| PLCZ1 Knockout A-549 Cell Line | EDJ-KQ66240 | Human | 89869 | Details Get a Quote |
| PLCZ1 Knockout HCT 116 Cell Line | EDJ-KQ74662 | Human | 89869 | Details Get a Quote |
