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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PLCE1 Gene

protein-coding GIFtS: 63
GCID: GC10P095753

phospholipase C, epsilon 1

Explore 30 diseases affiliated with
PLCE1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Phospholipase C, Epsilon 1¹ ²		PPLC² ³
PLCE¹ ² ³		EC 3.1.4.11³ ⁸
NPHS3¹ ² ⁵		1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Epsilon-1²
KIAA1516¹ ³ ⁵		1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Epsilon-1²
Pancreas-Enriched Phospholipase C² ³		Phosphoinositide-Specific Phospholipase C Epsilon-1²
Phosphoinositide Phospholipase C-Epsilon-1² ³		Phospholipase C-Epsilon-1³
PLC-Epsilon-1¹

External Ids:	HGNC: 17175¹	Entrez Gene: 51196²	Ensembl: ENSG00000138193⁷	OMIM: 608414⁵	UniProtKB: Q9P212³

Export aliases for PLCE1 gene to outside databases

Previous GC identifers: GC10P094683 GC10P095024 GC10P095921 GC10P095455 GC10P095743 GC10P089380

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLCE1:

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)

UniProtKB/Swiss-Prot: PLCE1_HUMAN, Q9P212

Function: 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

summary for PLCE1:

Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic

molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the

hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and

1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily

activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth

factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological

functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane

phospholipids.

Gene Wiki entry for PLCE1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PLCE1 gene promoter:
HFH-3 C/EBPbeta AML1a FOXO3 LCR-F1 FOXO3b FOXI1 FOXO4 FOXO3a TGIF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PLCE1 promoter sequence

Search SABiosciences Chromatin IP Primers for PLCE1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLCE1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23 Ensembl cytogenetic band: 10q23.33 HGNC cytogenetic band: 10q23

PLCE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLCE1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P095753: view genomic region (about GC identifiers)

Start:	95,753,746 bp from pter	End:	96,088,149 bp from pter
Size:	334,404 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PLCE1_HUMAN, Q9P212 (See protein sequence)

Recommended Name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1

Size: 2302 amino acids; 258715 Da

Cofactor: Calcium

Subunit: Interacts with RHOA (By similarity). Interacts with IQGAP1, HRAS, RAP1A, RAP2A, RAP2B and RRAS

Subcellular location: Cytoplasm, cytosol. Cell membrane. Golgi apparatus membrane. Note=Recruited to plasma membrane by

activated HRAS and RAP2. Recruited to perinuclear membrane by activated RAP1A. Isoform 1 and isoform 2 associates with

Golgi membranes

Sequence caution: Sequence=AAF22005.1; Type=Frameshift; Positions=1131; Sequence=AAG17145.2; Type=Frameshift;

Positions=2296; Sequence=BAA96040.2; Type=Erroneous initiation; Sequence=BAB14090.1; Type=Erroneous initiation;

Sequence=CAH70739.1; Type=Erroneous gene model prediction; Sequence=CAH73288.1; Type=Erroneous gene model prediction;

Sequence=CAH73757.1; Type=Erroneous gene model prediction; Sequence=CAI16674.1; Type=Erroneous gene model prediction;

3 PDB 3D structures from and Proteopedia for PLCE1:

2BYE (3D)

2BYF (3D)

2C5L (3D)

Secondary accessions: A6NGW0 A6NLA1 A7MBN7 A8K1D7 B9EIJ6 Q1X6H8 Q5VWL4 Q5VWL5 Q9H9X8 Q9HBX6 Q9HC53

Q9UHV3

Alternative splicing: 2 isoforms: Q9P212-1 Q9P212-2 (Ref.2 (AAG28341) sequence is in conflict in position: 69:L->P)

Explore the universe of human proteins at neXtProt for PLCE1: NX_Q9P212

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9P212

4 DME Specific Peptides for PLCE1 (Q9P212)

LSDLVIY

YHGHTLT

CGYVLKP

SSHNTYL

PLCE1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001159451.1 NP_057425.3

ENSEMBL proteins:

ENSP00000360431 ENSP00000360426 ENSP00000260766 ENSP00000360438

Reactome Protein details: Q9P212
Human Recombinant Protein Products for PLCE1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for PLCE1
	GenScript Custom Purified and Recombinant Proteins Services for PLCE1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	IDA	11022048
GO:0005886	plasma membrane	IDA	11022048

PLCE1 for ontologies About GeneDecksing

PLCE1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PLCE1
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for PLCE1
	GenScript Custom Superior Antibodies Services for PLCE1
	Novus Biologicals PLCE1 Antibodies
	Abcam antibodies for PLCE1
	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for PLCE1

Assay Products for PLCE1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PLCE1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PLCE1 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR015359 PLipase_C_EF-hand-like

IPR011992 EF-hand-like_dom

IPR001192 Pinositol_PLipase_C

IPR018029 C2_membr_targeting

IPR023578 Ras_GEF_dom

Graphical View of Domain Structure for InterPro Entry Q9P212

ProtoNet protein and cluster: Q9P212

3 Blocks protein families:

IPB000008 C2 domain

IPB000159 RA domain

IPB000909 Phosphatidylinositol-specific phospholipase C

UniProtKB/Swiss-Prot: PLCE1_HUMAN, Q9P212

Domain: The Ras-associating domain 1 is degenerated and may not bind HRAS. The Ras-associating domain 2 mediates

interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane

Domain: The Ras-GEF domain has a GEF activity towards HRAS and RAP1A. Mediates activation of the mitogen-activated

protein kinase pathway

Similarity: Contains 1 C2 domain

Similarity: Contains 1 PI-PLC X-box domain

Similarity: Contains 1 PI-PLC Y-box domain

Similarity: Contains 2 Ras-associating domains

Similarity: Contains 1 Ras-GEF domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PLCE1_HUMAN, Q9P212

Function: 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

Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate +

diacylglycerol

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

Induction: Overexpressed during heart failure

Enzyme Number (IUBMB): EC 3.1.4.11¹ ²

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004435	phosphatidylinositol phospholipase C activity	IDA	11022047
GO:0004629	phospholipase C activity	IDA	11022047
GO:0005057	receptor signaling protein activity	TAS	11022048
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	11022047
GO:0005509	calcium ion binding	IEA	--

PLCE1 for ontologies About GeneDecksing

Phenotypes:
4 GenomeRNAi human phenotypes for PLCE1:

Cell cycle / mitosis defect

Increased G1 DNA content

Increased HPV18 LCR reporter a

Increased cell number in G2M,

4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Plce1):

cardiovascular system

homeostasis/metabolism

muscle

tumorigenesis

PLCE1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for PLCE1: Plce1^tm1Avsm Plce1^tm1Tkat

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PLCE1

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PLCE1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLCE1
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate PLCE1 (see all 9):
		hsa-miR-3140-3p hsa-miR-3611 hsa-miR-3622b-3p hsa-miR-3156-5p hsa-miR-145 hsa-miR-4302 hsa-miR-4276 hsa-miR-628-5p

		SwitchGear 3'UTR luciferase reporter plasmid: PLCE1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLCE1 (see all 7) OriGene shRNA RFP: PLCE1 OriGene siRNA: PLCE1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCE1
		Sirion Biotech Custom design and validation of potent shRNA sequences against PLCE1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PLCE1
			Sirion Biotech Customized adenovirus for potent knockdown of PLCE1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLCE1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLCE1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PLCE1 (NM_016341)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCE1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCE1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PLCE1
		Search LifeMap BioReagents cell lines for PLCE1
		Sirion Biotech Customized stable knockdown cell line services for PLCE1 Sirion Biotech Customized inducible knockdown cell line services for PLCE1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCE1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/36 super-pathways (see all 36) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sweet Taste Signaling

	Sweet Taste Signaling	1.00			Cellular Effects of Sildenafil	0.46
	Melatonin Signaling	0.72			Sperm Motility	0.36

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

CREB Pathway

	CREB Pathway	1.00			Activation of PKC through GPCR	0.63
	IP3 Pathway	0.68			Intracellular Calcium Signaling	0.50

G-protein signaling_RhoA regulation pathway

	G-protein signaling RhoB regulation pathway	0.16			G-protein signaling_Rap2B regulation pathway	0.04
	G-protein signaling_RhoB regulation pathway	0.16			G-protein signaling Rap2B regulation pathway	0.04

NFAT and Cardiac Hypertrophy

	NFAT and Cardiac Hypertrophy	1.00			IGF1R Signaling	0.37
	Signaling Involved in Cardiac Hypertrophy	0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for PLCE1 (see all 6)

	Development Beta-adrenergic receptors regulation of ERK
	G-protein signaling Rap2B regulation pathway
	Signal transduction IP3 signaling
	Anandamide biosynthesis and metabolism
	G-protein signaling RhoB regulation pathway

5/39 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PLCE1 (see all 39)

	Antioxidant Action of Vitamin-C
	Intracellular Calcium Signaling
	Aldosterone Signaling in Epithelial Cells
	UVA-Induced MAPK Signaling
	PACAP Signaling

5/6 GeneGo (Thomson Reuters) Pathways for PLCE1 (see all 6)

	Anandamide biosynthesis and metabolism
	G-protein signaling Rap2B regulation pathway
	G-protein signaling RhoB regulation pathway
	Development Beta-adrenergic receptors regulation of ERK
	G-protein signaling G-Protein alpha-12 signaling pathway

5 BioSystems Pathways for PLCE1

	Kit Receptor Signaling Pathway
	D-myo-inositol-5-phosphate metabolism
	D-myo-inositol (1,4,5)-trisphosphate biosynthesis
	superpathway of inositol phosphate compounds
	phospholipases

3 Reactome Pathways for PLCE1

	Metabolism
	Inositol phosphate metabolism
	Synthesis of IP3 and IP4 in the cytosol

1 PharmGKB Pathway for PLCE1

Proton Pump Inhibitor Pathway, Pharmacodynamics

4 Kegg Pathways (Kegg details for PLCE1):

	Inositol phosphate metabolism
	Metabolic pathways
	Calcium signaling pathway
	Phosphatidylinositol signaling system

PLCE1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PLCE1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/78 Interacting proteins for PLCE1 (Q9P212^{2, 3} ENSP00000260766⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 78)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NRAS	P01111²^,³, ENSP00000358548⁴	MINT-65550 I2D: score=5 STRING: ENSP00000358548
HRAS	P01112³, ENSP00000309845⁴	I2D: score=2 STRING: ENSP00000309845
SIAH1	Q8IUQ4³, ENSP00000349156⁴	I2D: score=1 STRING: ENSP00000349156
SIAH2	O43255³, ENSP00000322457⁴	I2D: score=2 STRING: ENSP00000322457
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000187	activation of MAPK activity	IDA	11022047
GO:0001558	regulation of cell growth	TAS	11022047
GO:0006644	phospholipid metabolic process	IC	11022048
GO:0006651	diacylglycerol biosynthetic process	TAS	11022047
GO:0006940	regulation of smooth muscle contraction	TAS	11022047

PLCE1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EMD Millipore small molecules for PLCE1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for PLCE1 available from Tocris Bioscience About this table

Compound	Action	CAS #
m-3M3FBS	Phospholipase C activator	[200933-14-8]
AACOCF3	Phospholipase A2 inhibitor	[149301-79-1]
U 73122	Phospholipase C inhibitor	[112648-68-7]
D609	Selective PC-PLC inhibitor	[83373-60-8]

10/1224 HMDB Compounds for PLCE1 (see all 1224) About this table

Compound	Synonyms	CAS #	PubMed Ids
DG(16:0e/18:0/0:0)	2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)	--	12486725
Calcium	Ca (see all 2)	7440-70-2	--
DG(14:0/14:0/0:0)	DAG(14:0/14:0) (see all 9)	--	--
DG(14:0/14:1(9Z)/0:0)	DAG(14:0/14:1) (see all 15)	--	--
DG(14:0/15:0/0:0)	Diacylglycerol(29:0) (see all 9)	--	--
DG(14:0/16:0/0:0)	DAG(30:0) (see all 9)	--	--
DG(14:0/16:1(9Z)/0:0)	DG(30:1) (see all 15)	--	--
DG(14:0/18:0/0:0)	DG(14:0/18:0) (see all 9)	--	--
DG(14:0/18:1(11Z)/0:0)	Diacylglycerol (see all 15)	--	--
DG(14:0/18:1(9Z)/0:0)	1-myristoyl-2-oleoyl-sn-glycerol (see all 15)	--	--

Search CenterWatch for drugs/clinical trials and news about PLCE1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PLCE1 gene (2 alternative transcripts):

NM_001165979.1 NM_016341.3

Unigene Cluster for PLCE1:

Phospholipase C, epsilon 1

Hs.655033 [show with all ESTs]

Unigene Representative Sequence: BC151854

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000371380 ENST00000371375(uc001kjp.3) ENST00000464214 ENST00000260766(uc001kjk.3 uc010qnx.2)

ENST00000371385(uc001kjm.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PLCE1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLCE1
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate PLCE1 (see all 9):
		hsa-miR-3140-3p hsa-miR-3611 hsa-miR-3622b-3p hsa-miR-3156-5p hsa-miR-145 hsa-miR-4302 hsa-miR-4276 hsa-miR-628-5p

		SwitchGear 3'UTR luciferase reporter plasmid: PLCE1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLCE1 (see all 7) OriGene shRNA RFP: PLCE1 OriGene siRNA: PLCE1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCE1
		Sirion Biotech Custom design and validation of potent shRNA sequences against PLCE1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLCE1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLCE1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PLCE1 (NM_016341)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCE1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCE1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLCE1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PLCE1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLCE1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLCE1

Additional cDNA sequence:

AB040949.2 AF170071.1 AF190642.2 AK022543.1 AK025366.1 AK074239.1 AK289852.1 AK297779.1

AL050031.1 AY995135.1 BC140705.1 BC144286.1 BC151854.1 BX641131.1

7 DOTS entries:

DT.452444 DT.100754722 DT.101965210 DT.95160380 DT.97787584 DT.100024125 DT.97832581

24/138 AceView cDNA sequences (see all 138):

AI421345 AF170071 AI160750 BQ011378 AI299702 BM670035 AI633578 CB045373

BP349709 CD672190 AW135904 AW272589 CD627810 AI674036 BU734868 AW134737

CD627805 N93105 CA445306 AB040949 AI418741 CD627798 AW008702 CA419168

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PLCE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCTGAGGC

About this image

PLCE1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Neural Ectoderm

Brain

Diencephalic Floor Plate

Neural Tube

Mesencephalic Floor Plate

Neural Tube

Metencephalon

Neural Tube

Spinal Cord

Spinal Floor Plate

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (Generation and expan...)

Definitive endoderm-like cells (A scalable, suspensi...)

Mesoderm-like cells (Derivation of cardio...)

DKK1-induced cells (Derivation of cardio...)

See PLCE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PLCE1

SOURCE GeneReport for Unigene cluster: Hs.655033

UniProtKB/Swiss-Prot: PLCE1_HUMAN, Q9P212

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

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCE1 gene from 8/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Plce1^{1 , 5}	phospholipase C, epsilon 1^{1, 5}	84.79(n)¹ 85.62(a)¹		19 (33.16 cM)⁵ 74055¹ NM_019588.2¹ NP_062534.2¹ 38524197⁵
chicken (Gallus gallus)	Aves	PLCE1⁶	--	77(a)	1 ↔ 1	Un(44920832-44931081)
lizard (Anolis carolinensis)	Reptilia	PLCE1⁶	--	78(a)	1 ↔ 1	GL343219.1(1336470-1441519)
zebrafish (Danio rerio)	Actinopterygii	plce1¹	phospholipase C, epsilon 1	65.28(n) 66.56(a)		568288 NM_001161653.1 NP_001155125.1
mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP002529¹	AGAP002529-PA	47.66(n) 42.18(a)		1273433 XM_563634.3 XP_563634.3
worm (Caenorhabditis elegans)	Secernentea	plc-1¹	Protein PLC-1	45.34(n) 34.67(a)		181274 NM_001129669.1 NP_001123141.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ATPLC1⁶ ATPLC1⁶ (see all 9)	phosphoinositide phospholipase C 1 (see all 9)	23(a) 23(a) (see all 9)	many ↔ many many ↔ many (see all 9)	4(18020674-18022985) 5(23704231-23706800)
rice (Oryza sativa)	Liliopsida	-- -- (see all 4)	phospholipase C, putative, expressed (see all 4)	24(a) 24(a) (see all 4)	many ↔ many many ↔ many (see all 4)	3(10024184-10026867) 5(1535692-1541555)

ENSEMBL Gene Tree for PLCE1 (if available)
TreeFam Gene Tree for PLCE1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PLCE1 gene

PLCE1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for PLCE1
PGOHUM00000241226

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80207202^1,2	F	--	89379605(+)	`CAATCA/GTGTTA`	1	--	us2k¹		1	WA	118
rs112499552^1,2		--	89379742(+)	`TGGAGC/TCTCCA`	1	--	us2k¹		1	CSA	2
rs76444795^1,2	F	--	89379745(+)	`AGCCTC/TCAAGA`	1	--	us2k¹		1	NA	120
rs75380282^1,2	C,F	--	89379841(+)	`GAAGGC/TTCAGC`	1	--	us2k¹		1	WA	118
rs75298948^1,2	F	--	89380245(+)	`TCCAGC/AGGCTA`	1	--	us2k¹		1	NA	120
rs75845544^1,2	F	--	89380313(+)	`AGCAAT/CGAAAG`	1	--	us2k¹		1	WA	118
rs75272109^1,2	F	--	89380392(+)	`TGGCAC/AAACGC`	1	--	us2k¹		1	WA	118
rs75587215^1,2	F	--	89380677(+)	`GGTCAG/AGGCCA`	1	--	us2k¹		1	WA	118
rs75639609^1,2	C,F	--	89381071(+)	`GCCTCT/CCGGGC`	1	--	ut5¹		1	WA	118
rs78350820^1,2	F	--	89381490(+)	`TGTGAA/GTACGG`	1	--	int¹		1	WA	118

HapMap Linkage Disequilibrium report for PLCE1 (95753746 - 96003746 bp, first 250kb of PLCE1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PLCE1
1 Indel: 44801
Human Gene Mutation Database (HGMD): PLCE1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLCE1

DNA2.0 Custom Variant and Variant Library Synthesis for PLCE1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PLCE1 for disorders           About GeneDecksing

OMIM gene information: 608414
OMIM disorders: 610725
UniProtKB/Swiss-Prot: PLCE1_HUMAN, Q9P212

Defects in PLCE1 are the cause of nephrotic syndrome type 3 (NPHS3) [MIM:610725]; also known as early-onset

nephrotic syndrome type 3. Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria,

hypoalbuminemia, edema. End-stage kidney disease is observed in steroid-resistant nephrotic syndrome

20/30 diseases for PLCE1 (see all 30): About MalaCards

diffuse mesangial sclerosis mesangial sclerosis nephrotic syndrome proteinuria

focal segmental glomerulosclerosis steroid-resistant nephrotic syndrome nephrotic syndrome type 3 gastric cardia adenocarcinoma

glomerulosclerosis dengue shock syndrome melas syndrome familial nephrotic syndrome

esophageal squamous cell carcinoma squamous cell carcinoma neurologic diseases esophagitis

copd esophageal cancer alzheimer's disease gastric cancer

3 diseases from the University of Copenhagen DISEASES database for PLCE1:

Gastric cardia adenocarcinoma Nephrotic syndrome Focal segmental glomerulosclerosis

Human Genome Epidemiology (HuGE) Navigator: PLCE1 (13 documents)

Export disorders for PLCE1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PLCE1 gene, integrated from 9 sources (see all 68):
(articles sorted by number of sources associating them with PLCE1)

Utopia: connect your pdf to the dynamic
world of online information

A novel bifunctional phospholipase C that is regulated by Galpha 12 and stimulates the Ras/mitogen-activated protein kinase pathway. (PubMed id 11022047)^{1, 2, 3} Lopez I.... Lomasney J.W. (2001)
Regulation of a novel human phospholipase C, PLCepsilon, through membrane targeting by Ras. (PubMed id 11022048)^{1, 2, 3} Song C.... Kataoka T. (2001)
The small GTPase R-Ras regulates organization of actin and drives membrane protrusions through the activity of PLCepsilon. (PubMed id 16537651)^{1, 2} Ada-Nguema A.S.... Keely P.J. (2006)
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. (PubMed id 17086182)^{1, 2} Hinkes B....Hildebrandt F. (2006)
Structural and mechanistic insights into ras association domains of phospholipase C epsilon. (PubMed id 16483931)^{1, 2} Bunney T.D.... Katan M. (2006)
Signaling properties and expression in normal and tumor tissues of two phospholipase C epsilon splice variants. (PubMed id 15558028)^{1, 2} Sorli S.C.... Katan M. (2005)
Phospholipase C epsilon modulates beta-adrenergic receptor-dependent cardiac contraction and inhibits cardiac hypertrophy. (PubMed id 16293787)^{1, 2} Wang H.... Smrcka A.V. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
Inhibition of phospholipase C-epsilon by Gi-coupled receptors. (PubMed id 15157671)^{1, 2} vom Dorp F.... Schmidt M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 51196	HGNC: 17175	AceView: PLCE1	Ensembl:ENSG00000138193	euGenes: HUgn51196
ECgene: PLCE1	Kegg: 51196	H-InvDB: PLCE1

(According to HUGE)
About This Section

HUGE: KIAA1516

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PLCE1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PLCE1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PLCE1 gene:
Search GeneIP for patents involving PLCE1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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phospholipase C, epsilon 1

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PLCE1 Gene

phospholipase C, epsilon 1

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