PLCG1

Chr 20q12

phospholipase C gamma 1

Aliases:: PLC148, PLC-II, PLCgamma1, NCKAP3
MANE:: ENST00000685551.1

OMIM: 172420 ↗NCBI: 5335 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLCG1 · P19174

v62025-08-01

Predicted Aligned Error matrix for PLCG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.8/ 100

Confident

1,290 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)27%
Low(50–70)6%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Autoinflammatory disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cancer
0.60
bone development disease
0.55
cutaneous leishmaniasis
0.50
angiosarcoma
0.46
immune dysregulation, autoimmunity, and autoinflammation
0.45
Hypercholesterolemia
0.40
adult T-cell leukemia/lymphoma
0.38
angioimmunoblastic T-cell lymphoma
0.38
duodenal adenocarcinoma
0.37
hemangioblastoma
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 gamma-1

Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, EGFR, FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Plays a role in actin reorganization and cell migration (PubMed:17229814). Guanine nucleotide exchange factor that binds the GTPase DNM1 and catalyzes the dissociation of GDP, allowing a GTP molecule to bind in its place, therefore enhancing DNM1-dependent endocytosis (By similarity)