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PLCE1 Gene

protein-coding   GIFtS: 66
GCID: GC10P095753

Phospholipase C, Epsilon 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phospholipase C, Epsilon 11 2     NPHS32 5
Pancreas-Enriched Phospholipase C2 3     KIAA15163 5
Phosphoinositide Phospholipase C-Epsilon-12 3     Nephrosis Type 31
PLC-epsilon-12 3     1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Epsilon-12
PLCE2 3     Phosphoinositide-Specific Phospholipase C Epsilon-12
PPLC2 3     Phospholipase C-Epsilon-13
EC 3.1.4.113 8     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLCE1 Gene:
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)

GeneCards Summary for PLCE1 Gene:
PLCE1 (phospholipase C, epsilon 1) is a protein-coding gene. Diseases associated with PLCE1 include nephrotic syndrome type 3, and nephrotic syndrome. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and calcium ion binding. An important paralog of this gene is PLCG2.

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 Gene:
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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   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 plasmidPLCE1 promoter sequence
   Search Chromatin IP Primers for PLCE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
96,092,580 bp from pter
Size:
338,835 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for PLCE1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for PLCE1 (Q9P212)
     LSDLVIY  YHGHTLT  CGYVLKP  SSHNTYL 


    See PLCE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159451.1  NP_001275918.1  NP_057425.3  

    ENSEMBL proteins: 
     ENSP00000360431   ENSP00000360426   ENSP00000260766   ENSP00000360438  
    Reactome Protein details: Q9P212

    PLCE1 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    PLCE1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PLCE1
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    Novus Biologicals PLCE1 Antibodies
    Abcam antibodies for PLCE1
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for PLCE1
    LSBio Antibodies in human, mouse, rat for PLCE1

    PLCE1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PLCE1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: PLCepsilon1
    Phosphoinositide-specific phospholipase C

    Selected InterPro protein domains (see all 11):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-dom_pair
     IPR001192 PI-PLC_fam
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25

    Graphical View of Domain Structure for InterPro Entry Q9P212

    ProtoNet protein and cluster: Q9P212

    3 Blocks protein domains:
    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


    PLCE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity IDA11022047
    GO:0004629phospholipase C activity IDA11022047
    GO:0005057receptor signaling protein activity TAS11022048
    GO:0005085guanyl-nucleotide exchange factor activity TAS11022047
    GO:0005509calcium 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 3 alleles(MGI details for Plce1):
     cardiovascular system  homeostasis/metabolism  muscle  tumorigenesis 

    PLCE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PLCE1: Plce1tm1Avsm Plce1tm1Tkat

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLCE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PLCE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLCE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLCE1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PLCE1:
    hsa-mir-335-5p (MIRT017291), hsa-mir-192-5p (MIRT026288), hsa-mir-215-5p (MIRT024850)

    Block miRNA regulation of human, mouse, rat PLCE1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidPLCE1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PLCE1
    Predesigned siRNA for gene silencing in human, mouse, rat PLCE1

    Gene Editing
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    Clone
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    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
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCE1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLCE1_HUMAN, Q9P212: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus5
    plasma membrane5
    nucleus3
    chloroplast1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IDA11022048
    GO:0005886plasma membrane TAS--

    PLCE1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PLCE1 About   (see all 39)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.36
    Phosphatidylinositol signaling system0.61
    D-myo-inositol-5-phosphate metabolism0.00
    superpathway of inositol phosphate compounds0.60
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3phospholipases
    phospholipases0.34
    Anandamide biosynthesis and metabolism0.34
    4Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    Sperm Motility0.37
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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
    phospholipases
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for PLCE1
        Synthesis of IP3 and IP4 in the cytosol

    1 PharmGKB Pathway for PLCE1
        Proton Pump Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for PLCE1) (see all 8):
        Inositol phosphate metabolism
    Metabolic pathways
    Ras signaling pathway
    Rap1 signaling pathway
    Calcium signaling pathway


    PLCE1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLCE1
    Interactions:

        Search GeneGlobe Interaction Network for PLCE1

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

    Selected Interacting proteins for PLCE1 (Q9P2122, 3 ENSP000002607664) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NRASP011112, 3, ENSP000003585484MINT-65550 I2D: score=5 STRING: ENSP00000358548
    ENSG00000228321P013753, ENSP000003928584I2D: score=1 STRING: ENSP00000392858
    TNFP013753, ENSP000003986984I2D: score=1 STRING: ENSP00000398698
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IDA11022047
    GO:0001558regulation of cell growth TAS11022047
    GO:0006629lipid metabolic process ----
    GO:0006644phospholipid metabolic process IC11022048
    GO:0006651diacylglycerol biosynthetic process TAS11022047

    PLCE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for PLCE1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FIPIPhospholipase D inhibitor[939055-18-2]
    m-3M3FBSPhospholipase C activator[200933-14-8]
    Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
    U 73343Inactive analog of U 73122 (Cat. No. 1268)[142878-12-4]
    D609Selective PC-PLC inhibitor[83373-60-8]

    Selected HMDB Compounds for PLCE1 (see all 1224)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    CalciumCa (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)----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PLCE1 gene (3 alternative transcripts): 
    NM_001165979.2  NM_001288989.1  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
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    Selected qRT-PCR 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
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    GenScript: all cDNA clones in your preferred vector (see all 2): PLCE1 (NM_016341)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCE1
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      QuantiFast Probe-based Assays in human, mouse, rat PLCE1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 138):

    CD627798 BE218926 CB045373 AW008702 BP376346 BM670035 AA954204 AI299702 
    N93105 AW135904 BX470410 AI160750 CD627810 AL699322 CA445306 CD627805 
    AI418741 BU734868 AI421345 CD672190 AW272590 AB040949 AF170071 AI674036 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PLCE1 expression in normal human tissues (normalized intensities)      PLCE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCTGAGGC
    PLCE1 Expression
    About this image


    PLCE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Definitive endoderm-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
    PLCE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLCE1 Protein Expression

    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

        Custom PCR Arrays for PLCE1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCE1

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PLCE1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plce11 , 5 phospholipase C, epsilon 11, 5 84.79(n)1
    85.62(a)1
      19 (33.16 cM)5
    740551  NM_019588.21  NP_062534.21 
     384811095 
    chicken
    (Gallus gallus)
    Aves LOC4252241 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase more 73.67(n)
    73.85(a)
      425224  XM_004942153.1  XP_004942210.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLCE16
    phospholipase C, epsilon 1
    72(a)
    1 ↔ 1
    GL343219.1(1336451-1499515)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plce11 phospholipase C, epsilon 1 73.69(n)
    79.52(a)
      100495530  XM_002937176.2  XP_002937222.2 
    zebrafish
    (Danio rerio)
    Actinopterygii plce11 phospholipase C, epsilon 1 65.67(n)
    66.86(a)
      568288  NM_001161653.1  NP_001155125.1 
    worm
    (Caenorhabditis elegans)
    Secernentea plc-11 plc-1 46.35(n)
    35.88(a)
      181274  NM_001129669.2  NP_001123141.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PLC16
    Phospholipase C, hydrolyzes phosphatidylinositol 4...
    26(a)
    1 → many
    XVI(35236-37845) YPL268W


    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)
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    Paralogs for PLCE1 gene
    PLCG22  PLCG12  

    PLCE1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PLCE1
    PGOHUM00000241226


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLCE1 (see all 6020)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0298834
    Nephrotic syndrome 3 (NPHS3)4--see VAR_0298832 S L mis40--------
    rs114063941,2
    C--89386719(+) TCTGCT/-TCCCG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs607111491,2
    C--89390575(+) AATTAG/-TTTGC 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1412756041,2
    C--89394081(+) AGGGG-/AAAAAA 1 -- int10--------
    rs714867081,2
    C--89394546(+) CTCTCTT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs802951691,2
    C--89394728(+) TTTTT-/CTTATG 1 -- int10--------
    rs2013249331,2
    --89395283(+) AAATC-/TTTCAG 1 -- int10--------
    rs57870971,2
    C--89395285(+) ATCTTTC/-CAGGT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1509109431,2
    C--89414878(+) TCTCA-/AAAT  
            
    AAATA
    1 -- int10--------
    rs678117751,2
    C--89427509(+) AAGGA-/CATCATCC 1 -- int11Minor allele frequency- CAT:0.00CSA 2

    HapMap Linkage Disequilibrium report for PLCE1 (95753746 - 96003746 bp, first 250kb of PLCE1)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PLCE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1967938CNV Deletion18987734
    nsv831946CNV Loss17160897
    nsv825525CNV Loss20364138
    esv275010CNV Gain+Loss21479260
    esv259526OTHER Complex20981092
    esv259683OTHER Complex20981092

    Human Gene Mutation Database (HGMD): PLCE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608414   
    OMIM disorders: 610725  
    UniProtKB/Swiss-Prot: PLCE1_HUMAN, Q9P212
  • Nephrotic syndrome 3 (NPHS3) [MIM:610725]: A form of nephrotic syndrome, a renal disease clinically
    characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and
    edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and
    diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress
    to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a
    pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of
    the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PLCE1 (see all 34):    About MalaCards
    nephrotic syndrome type 3    nephrotic syndrome    proteinuria    diffuse mesangial sclerosis
    nephrotic syndrome, type 4    familial nephrotic syndrome    gastric cardia carcinoma    focal segmental glomerulosclerosis
    nephrosis    steroid-resistant nephrotic syndrome    dengue shock syndrome    gastric cardia adenocarcinoma
    neurologic diseases    gastric adenocarcinoma    narcolepsy    squamous cell carcinoma of the head and neck
    glioblastoma multiforme    esophageal squamous cell carcinoma    esophagitis    esophageal cancer

    3 diseases from the University of Copenhagen DISEASES database for PLCE1:
    Gastric cardia carcinoma     Nephrotic syndrome     Focal segmental glomerulosclerosis

    PLCE1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): PLCE1
    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)
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    PubMed articles for PLCE1 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with PLCE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (J. Biol. Chem. 2001)
    2. Regulation of a novel human phospholipase C, PLCepsilon, through membrane targeting by Ras. (PubMed id 11022048)1, 2, 3 Song C.... Kataoka T. (J. Biol. Chem. 2001)
    3. Genome-wide association study of smoking behaviours in patients with COPD. (PubMed id 21685187)1, 4 Siedlinski M.... . (Thorax 2011)
    4. Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. (PubMed id 22001756)1, 4 Khor C.C....Simmons C.P. (Nat. Genet. 2011)
    5. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (BMC Cardiovasc Disord 2011)
    6. Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. (PubMed id 21642993)1, 4 Wu C....Lin D. (Nat. Genet. 2011)
    7. Genome-wide association study of personality traits in bipolar patients. (PubMed id 21368711)1, 4 Alliey-Rodriguez N....Gershon E.S. (Psychiatr. Genet. 2011)
    8. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PubMed id 21909115)1, 4  ....Johnson T. (Nature 2011)
    9. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PubMed id 21909110)1, 4 Wain L.V....van Duijn C.M. (Nat. Genet. 2011)
    10. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (Vaccine 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 51196 HGNC: 17175 AceView: PLCE1 Ensembl:ENSG00000138193 euGenes: HUgn51196
    ECgene: PLCE1 Kegg: 51196 H-InvDB: PLCE1

    (According to HUGE)
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    HUGE: KIAA1516

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

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    NameDescription
    PharmGKB entry for PLCE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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