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FLASH GENE

Symbol

PLCE1

contributors: mct/npt - updated : 28-12-2020

HGNC name	phospholipase C, epsilon 1
HGNC id	17175

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NPHS3 childhood nephrotic syndrome 3 SRN3 steroid-resistant nephrotic syndrome 3
Location	10q23.33      Physical location : 95.753.745 - 96.088.146
Synonym name	pancreas-enriched phospholipase C
	nephrosis type 3
	phosphoinositide-specific phospholipase C epsilon-1
Synonym symbol(s)	KIAA1516, RP11-76P2.1, FLJ23659, NPHS3, PLCE, MGC167842, PLC-epsilon-1
EC.number	3.1.4.11

DNA

TYPE	functioning gene
STRUCTURE	338.89 kb     33 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001165979 31 - 6516 NP_001159451 - 1994 - 2019 31383001 NM_016341 33 - 12481 NP_057425 - 2302 - 2019 31383001 NM_001288989 33 - 12433 NP_001275918 - 2286 - 2019 31383001

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine small intestine     highly Nervous brain         Reproductive female system placenta     highly Respiratory respiratory tract trachea     highly Urinary kidney nephron renal capsule glomerulus highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	in developing glomerular podocytes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal guanine exchange factor (RAS-GEF) domain, followed by central catalytic X and Y domains
	a regulatory C2 domain
	an EF-hand domain
	a PI-PLC x-box domain
	a PI-PLC y-box domain
	two C-terminal HRAS-associating (RA) domains (RA1 and RA2), RA2 domain, in a mode specific to PLCE, having a role in membrane targeting with further regulatory impact on PLC activity (Bunney 2006)

HOMOLOGY

interspecies	homolog to rattus Plce1
	homolog to murine Plce1

Homologene

FAMILY

phospholipase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic

basic FUNCTION	initiating a cascade of intracellular responses that result in cell growth and differentiation and gene expression
	required for cell growth
	has an oncogenic role in skin and intestinal carcinogenesis through inflammation signaling pathways, and in head and neck squamous cell carcinoma progression by binding Ras family small GTPases
	crucial podocyte protein, highly expressed in embryonic and mature glomeruli, which catalyzes the hydrolysis of phosphatidylinositol-4,5-bispohosphate and generates the second messengers inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG) (Machuca 2009)
	might regulate cell growth, differentiation, apoptosis and angiogenesis
	may be involved in the development of sporadic colorectal cancer through its inhibitory effect on cell proliferation
	essential roles of PLCE1 in esophageal carcinoma cells
	PLCE1 also plays a role in the proliferation and differentiation of podocytes, regardless of the presence of NCK2

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with IQGAP1
	interacting with BRAF (Chaib 2008)
	redundant role of PLCE1-mediated TRPC6 activation at least in podocytes
	AVIL colocalized and interacted with the phospholipase enzyme PLCE1 and with the ARP2/3 actin-modulating complex
	PLCE1 regulates Rho GTPase activity and cell migration through interacting with NCK2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SRN3 , NPHS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   lower in hepatocellular carcinoma (HCC) cell lines than normal liver epithelial cells and significantly associated with poorer overall survival tumoral     --low   in 42p100 of colorectal cancer tissues compared with pair-matched normal tissues

Susceptibility

to gastric adenocarcinoma and esophageal squamous cell carcinoma to dengue shock syndrome

Variant & Polymorphism other	variant assoiciated to risk of gastric adenocarcinoma and esophageal squamous cell carcinoma
	variant increasing susceptibility for dengue shock syndrome

Candidate gene
Marker	may function as a promising biomarker for HCC prognosis
Therapy target
	System Type Disorder Pubmed cancer digestive oesophagus targeting PLCE1 and its downstream molecules could be effective therapies for esophageal cancer

ANIMAL & CELL MODELS