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  3. PLCE1

PLCE1 (Phospholipase C epsilon 1)

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The Function of PLCE1

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.

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Protein names

Recommended name:

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

Alternative name(s):

Pancreas-enriched phospholipase C
Phosphoinositide phospholipase C-epsilon-1
Phospholipase C-epsilon-1
PLC-epsilon-1

PLCE1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS11187837 (PLCE1) ??
  2. RS117607728 (PLCE1) ??
  3. RS1223629 (PLCE1) ??
  4. RS2274223 (PLCE1) ??
  5. RS3765524 (PLCE1) ??
  6. RS3781264 (PLCE1) ??
  7. RS7072574 (PLCE1) ??
  8. RS932764 (PLCE1) ??
  9. RS9419788 (PLCE1) ??
  10. RS9663362 (PLCE1) ??

Top Gene-Substance Interactions

PLCE1 Interacts with These Diseases

Disease Score

Substances That Increase PLCE1

Substances Interaction Organism Category

Substances That Decrease PLCE1

Substances Interaction Organism Category

Advanced Summary

     Covered on Genetics Home Reference: congenital nephrotic syndromeFrom NCBI Gene: Nephrotic syndrome, type 3From UniProt: Nephrotic syndrome 3 (NPHS3): A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. [MIM:610725]

     From NCBI Gene: This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009] From UniProt: 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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3
  • STAT5B
  • GATA-1
  • NF-1
  • Bach1
  • Lmo2

Tissue specificity:

Widely expressed. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen.

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Calcium signaling pathway
  • Inositol phosphate metabolism
  • Phosphatidylinositol signaling system

Induction:

Overexpressed during heart failure.

Enzyme Regulation:

Activated by the heterotrimeric G-protein subunits GNA12, GNA13 and GNB1-GNG2. Activated by HRAS, RAP1A, RHOA, RHOB, RHOC, RRAS and RRAS2. Activated by the G(s)-coupled GPCRs ADRB2, PTGER1 and CHRM3 through cyclic-AMP formation and RAP2B activation. Inhibited by G(i)-coupled GPCRs.

Molecular Function:

  • Enzyme Binding
  • Guanyl-Nucleotide Exchange Factor Activity
  • Metal Ion Binding
  • Phosphatidylinositol Phospholipase C Activity
  • Phospholipase C Activity
  • Ras Gtpase Binding
  • Signal Transducer Activity, Downstream Of Receptor

Biological Processes:

  • Activation Of Mapk Activity
  • Calcium-Mediated Signaling
  • Cell Proliferation
  • Cytoskeleton Organization
  • Diacylglycerol Biosynthetic Process
  • Epidermal Growth Factor Receptor Signaling Pathway
  • Glomerulus Development
  • Heart Development
  • Inositol Phosphate-Mediated Signaling
  • Inositol Phosphate Metabolic Process
  • Lipid Catabolic Process
  • Phospholipase C-Activating G-Protein Coupled Receptor Signaling Pathway
  • Phospholipid Metabolic Process
  • Positive Regulation Of Cytosolic Calcium Ion Concentration
  • Protein Kinase C-Activating G-Protein Coupled Receptor Signaling Pathway
  • Ras Protein Signal Transduction
  • Regulation Of Cell Growth
  • Regulation Of G-Protein Coupled Receptor Protein Signaling Pathway
  • Regulation Of Protein Kinase Activity
  • Regulation Of Ras Protein Signal Transduction
  • Regulation Of Smooth Muscle Contraction
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| phosphoinositide phospholipase C| 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1| 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1| 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1-like| A306_01296| Anapl_03548| AS27_02620| AS28_14241| CB1_000155002| D623_10018026| GW7_00943| I79_006986| M91_16744| M959_09898| MDA_GLEAN10014828| N300_07488| N301_10630| N302_13503| N303_09174| N305_11473| N306_13883| N307_06156| N308_09026| N309_12987| N310_11327| N311_08548| N312_11872| N320_11716| N321_12408| N322_10349| N324_09687| N326_03470| N327_13867| N328_06779| N329_07566| N330_13415| N331_04181| N332_02333| N335_14255| N339_01230| N340_09598| N341_08099| NPHS3| PAL_GLEAN10018344| pancreas-enriched phospholipase C| phosphoinositide phospholipase C-epsilon-1| phosphoinositide-specific phospholipase C epsilon-1| phospholipase C epsilon| phospholipase C, epsilon 1| Plce| PLCepsilon| PLC-epsilon-1| PPLC| TREES_T100006508| UY3_06680| Y1Q_007945| Y956_01504| Z169_12832| plce1

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