PLCE1

Also known as NPHS3, PLCE, PPLC, phospholipase C epsilon 1

Phospholipase C epsilon 1 (PLCE1) is an enzyme that in humans is encoded by the PLCE1 gene. This gene encodes a phospholipase enzyme (PLCE1) that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). Mutations in this gene cause early-onset nephrotic syndrome and have been associated with respiratory chain deficiency with diffuse mesangial sclerosis.

Gene data

PLCE1

Name: phospholipase C epsilon 1
Type: protein-coding
Position: 93,993,894–94,332,823 (+)
Aliases: NPHS3, PLCE, PPLC
Ensembl: ENSG00000138193
RefSeq RNA: NM_001165979.2, NM_001288989.2, NM_016341.4, XM_006717885.5, XM_006717888.5
RefSeq protein: NP_001159451.1, NP_001275918.1, NP_057425.3, XP_006717948.1, XP_006717951.1

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].

Pathways

via MyGene.info

Gene · Ensembl

phospholipase C epsilon 1

Symbol: PLCE1
Biotype: Protein coding
Organism: Homo sapiens
Location: 10:93,993,807-94,332,823
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein PLCE1 PDB 2bye.png

Show 5 more facts

HomoloGene ID: 9478
genomic end: 94332823
exact match: identifiers.org/ncbigene/51196
genomic start: 93993931
cytogenetic location: 10q23.33

Sources (6)

via Wikidata · CC0

~4 min read

Article

7 sections

Contents

Structure
Function
Catalytic activity
Clinical significance
Interactions
References
Further reading

== Structure == PLCE1 is located on the q arm of chromosome 10 in position 23.33 and has 39 exons. PLCE1, the protein encoded by this gene, is located on the Golgi apparatus, the cell membrane, and in the cytosol. It contains 3 turns, 15 beta strands, and 6 alpha helixes. PLCE1 contains a 260 amino acid Ras-GEF domain at p. 531-790, a 149 amino acid PI-PLC X-box domain at p. 1392-1540, a 117 amino acid PI-PLC Y-box domain at p. 1730 – 1846, a 101 amino acid C2 domain at p. 1856 – 1956, a 103 amino acid Ras-associating 1 domain at p. 2012 – 2114, and a 104 amino acid Ras-associating 2 domain at p. 2135 – 2238. There is a region of 79 amino acids from p. 1686 – 1764 that is required for PLCE1 to be activated by RHOA, RHOB, GNA12, GNA13 and G-beta gamma. PLCE1 also has a Ca2+ cofactor. Alternative splicing results in multiple transcript variants encoding distinct isoforms.