AlphaFold predicted structure
PLCE1 · Q9P212
Mean pLDDT
60.4/ 100
Low
2,302 residues
Confidence breakdown
- Very high(≥ 90)27%
- Confident(70–90)21%
- Low(50–70)6%
- Very low(< 50)46%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PLCE1
Chr 10q23.33phospholipase C epsilon 1
- Aliases:
- KIAA1516, PLCE, NPHS3
- MANE:
- ENST00000371380.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalProteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalUnexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
nephrotic syndrome, type 3
0.76familial idiopathic steroid-resistant nephrotic syndrome
0.64nephrotic syndrome
0.63Abnormality of the skeletal system
0.52hypertensive disorder
0.48essential hypertension
0.43hypertension, pregnancy-induced
0.42aortic aneurysm
0.41abdominal aortic aneurysm
0.41Increased blood pressure
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation. In podocytes, is involved in the regulation of lamellipodia formation. Acts downstream of AVIL to allow ARP2/3 complex assembly (PubMed:29058690)
Diseases associated with PLCE1
Curated MONDO disease pages that list PLCE1 among their top associated genes.