PLCE1

GENERAL INFORMATION

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Gene name

PLCE1

Gene description

Phospholipase C, epsilon 1

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
RAS pathway related proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA015597 , HPA015598
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

PLCE1 (HGNC Symbol)

Synonyms

KIAA1516, NPHS3, PLCE

Description

Phospholipase C, epsilon 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

10

Cytoband

q23.33

Chromosome location (bp)

93993989 - 94332823

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000138193 (version 78.38)

Entrez gene

51196

UniProt

Q9P212 (UniProt - Evidence at protein level)

neXtProt

NX_Q9P212

Antibodypedia

PLCE1 antibodies


PROTEIN BROWSER

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ENST00000260766
 
ENST00000371375
 
ENST00000371380
 
ENST00000371385
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PLCE1-001 ENSP00000360431
ENST00000371380
Q9P212
Show all »
Show » Show » 2302 258.7 No 0
PLCE1-002 ENSP00000360426
ENST00000371375
Q9P212
Show all »
Show » Show » 1994 223.9 No 0
PLCE1-201 ENSP00000260766
ENST00000260766
Q9P212
Show all »
Show » Show » 2302 258.7 No 0
PLCE1-202 ENSP00000360438
ENST00000371385
Q9P212
Show all »
Show » Show » 1994 223.9 No 0