PLCB1

Chr 20p12.3

phospholipase C beta 1

Aliases:: KIAA0581, PLC-I, PLC154
MANE:: ENST00000338037.11

OMIM: 607120 ↗NCBI: 23236 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLCB1 · Q9NQ66

v62025-08-01

Predicted Aligned Error matrix for PLCB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.6/ 100

Confident

1,216 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)17%
Low(50–70)4%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 12
0.76
Abnormality of the skeletal system
0.39
hypertensive disorder
0.38
infantile spasms
0.38
genetic developmental and epileptic encephalopathy
0.37
malignant migrating partial seizures of infancy
0.37
epilepsy of infancy with migrating focal seizures
0.37
early-infantile DEE
0.37
early infantile epileptic encephalopathy, autosomal recessive
0.37
alcohol drinking
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1

Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier