PLCE1

PLCE1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPLCE1, NPHS3, PLCE, PPLC, phospholipase C epsilon 1
External IDsOMIM: 608414; MGI: 1921305; HomoloGene: 9478; GeneCards: PLCE1; OMA:PLCE1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

51196

74055

Ensembl

ENSG00000138193

ENSMUSG00000024998

UniProt

Q9P212

Q8K4S1

RefSeq (mRNA)

NM_001165979
NM_001288989
NM_016341

NM_019588

RefSeq (protein)

NP_001159451
NP_001275918
NP_057425

NP_062534

Location (UCSC)Chr 10: 93.99 – 94.33 MbChr 19: 38.47 – 38.77 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.