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PLCE1 phospholipase C epsilon 1 [ Homo sapiens (human) ]

Gene ID: 51196, updated on 23-Dec-2018

Summary

Official Symbol
PLCE1provided by HGNC
Official Full Name
phospholipase C epsilon 1provided by HGNC
Primary source
HGNC:HGNC:17175
See related
Ensembl:ENSG00000138193 MIM:608414
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLCE; PPLC; NPHS3
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]
Expression
Broad expression in colon (RPKM 6.3), endometrium (RPKM 5.5) and 21 other tissues See more
Orthologs

Genomic context

See PLCE1 in Genome Data Viewer
Location:
10q23.33
Exon count:
39
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (93993989..94328392)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95753746..96088149)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378438 Neighboring gene PIP5K1A and PSMD4-like, pseudogene Neighboring gene RNY4 pseudogene 26 Neighboring gene PLCE1 antisense RNA 2 Neighboring gene uncharacterized LOC107984255 Neighboring gene histone deacetylase 1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 657, pseudogene Neighboring gene PLCE1 antisense RNA 1 Neighboring gene NOC3 like DNA replication regulator Neighboring gene TBC1 domain family member 12 Neighboring gene helicase, lymphoid specific

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nephrotic syndrome, type 3
MedGen: C1853124 OMIM: 610725 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
NHGRI GWA Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.
NHGRI GWA Catalog
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
NHGRI GWA Catalog
Genome-wide association study of personality traits in bipolar patients.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours in patients with COPD.
NHGRI GWA Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
NHGRI GWA Catalog
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells PubMed
Tat tat Phospholipase C/protein kinase C pathway-dependent phosphorylation of p44/42 and JNK MAP kinases is partially involved in IL-1beta induction by HIV-1 Tat PubMed
tat HIV-1 Tat induces release of calcium and TNF-alpha production, an effect mediated at least in part by activation of phospholipase C PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23659, KIAA1516, MGC167842

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ras GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phospholipase C activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol phospholipase C activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol phospholipase C activity TAS
Traceable Author Statement
more info
 
phospholipase C activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
activation of MAPK activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium-mediated signaling NAS
Non-traceable Author Statement
more info
PubMed 
calcium-mediated signaling TAS
Traceable Author Statement
more info
PubMed 
cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
diacylglycerol biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
epidermal growth factor receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
glomerulus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development TAS
Traceable Author Statement
more info
PubMed 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
inositol phosphate-mediated signaling TAS
Traceable Author Statement
more info
PubMed 
inositol trisphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipase C-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration TAS
Traceable Author Statement
more info
PubMed 
regulation of G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell growth TAS
Traceable Author Statement
more info
PubMed 
regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of smooth muscle contraction TAS
Traceable Author Statement
more info
PubMed 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
Names
PLC-epsilon-1
pancreas-enriched phospholipase C
phosphoinositide phospholipase C
phosphoinositide phospholipase C-epsilon-1
phosphoinositide-specific phospholipase C epsilon-1
NP_001159451.1
NP_001275918.1
NP_057425.3
XP_006717948.1
XP_006717951.1
XP_006717952.1
XP_006717953.1
XP_011538151.1
XP_011538152.1
XP_011538153.1
XP_011538154.1
XP_016871799.1
XP_016871800.1
XP_016871801.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015799.1 RefSeqGene

    Range
    5001..339404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165979.2NP_001159451.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2

    See identical proteins and their annotated locations for NP_001159451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons and has an additional novel exon at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a novel start codon, compared to variant 1. The encoded protein (isoform 2; also known as PLCepsilon1b) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF170071, AK289852, BC151854, BX491865
    Consensus CDS
    CCDS53555.1
    UniProtKB/Swiss-Prot
    Q9P212
    Related
    ENSP00000360438.3, ENST00000371385.7
    Conserved Domains (6) summary
    cd00275
    Location:15641676
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd01780
    Location:18291928
    PLC_epsilon_RA; Ubiquitin-like domain of Phosphatidylinositide-specific phospholipase
    cd08596
    Location:10831525
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:10101675
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:231405
    RasGEF; RasGEF domain
    pfam09279
    Location:10201071
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
  2. NM_001288989.1NP_001275918.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 3

    See identical proteins and their annotated locations for NP_001275918.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    BC144286, BC151854
    UniProtKB/Swiss-Prot
    Q9P212
    UniProtKB/TrEMBL
    B7ZM61
    Conserved Domains (6) summary
    cd00275
    Location:18561968
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13751817
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13021967
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13121363
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21212220
    UBQ; Ubiquitin-like proteins
  3. NM_016341.3NP_057425.3  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 1

    See identical proteins and their annotated locations for NP_057425.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1; also known as PLCepsilon1a).
    Source sequence(s)
    AB040949, AF117948, AK074239
    Consensus CDS
    CCDS41552.1
    UniProtKB/Swiss-Prot
    Q9P212
    Related
    ENSP00000360431.2, ENST00000371380.7
    Conserved Domains (6) summary
    cd00275
    Location:18721984
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13911833
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13181983
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21372236
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    93993989..94328392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539851.3XP_011538153.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X7

    Conserved Domains (3) summary
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl14615
    Location:13911530
    PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
  2. XM_011539852.3XP_011538154.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X8

    Conserved Domains (3) summary
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl14615
    Location:13911530
    PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
  3. XM_017016310.2XP_016871799.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1

    Conserved Domains (6) summary
    cd00275
    Location:18861998
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13911847
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13181997
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21512250
    UBQ; Ubiquitin-like proteins
  4. XM_006717885.4XP_006717948.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1

    See identical proteins and their annotated locations for XP_006717948.1

    Conserved Domains (6) summary
    cd00275
    Location:18861998
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13911847
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13181997
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21512250
    UBQ; Ubiquitin-like proteins
  5. XM_006717888.4XP_006717951.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X2

    Conserved Domains (6) summary
    cd00275
    Location:18851997
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13911846
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13181996
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21502249
    UBQ; Ubiquitin-like proteins
  6. XM_006717889.4XP_006717952.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3

    Conserved Domains (6) summary
    cd00275
    Location:18701982
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13751831
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13021981
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13121363
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21352234
    UBQ; Ubiquitin-like proteins
  7. XM_017016311.2XP_016871800.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1

    Conserved Domains (6) summary
    cd00275
    Location:18861998
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13911847
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13181997
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21512250
    UBQ; Ubiquitin-like proteins
  8. XM_011539849.3XP_011538151.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1

    See identical proteins and their annotated locations for XP_011538151.1

    Conserved Domains (6) summary
    cd00275
    Location:18861998
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08596
    Location:13911847
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:13181997
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:539713
    RasGEF; RasGEF domain
    pfam09279
    Location:13281379
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cl00155
    Location:21512250
    UBQ; Ubiquitin-like proteins
  9. XM_011539850.3XP_011538152.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X6

    Conserved Domains (6) summary
    cd00275
    Location:15011613
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd01780
    Location:17661865
    PLC_epsilon_RA; Ubiquitin-like domain of Phosphatidylinositide-specific phospholipase
    cd08596
    Location:10061462
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:9331612
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:154328
    RasGEF; RasGEF domain
    pfam09279
    Location:943994
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
  10. XM_006717890.3XP_006717953.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X4

    Conserved Domains (6) summary
    cd00275
    Location:15781690
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd01780
    Location:18431942
    PLC_epsilon_RA; Ubiquitin-like domain of Phosphatidylinositide-specific phospholipase
    cd08596
    Location:10831539
    PI-PLCc_epsilon; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-epsilon
    PLN02952
    Location:10101689
    PLN02952; phosphoinositide phospholipase C
    pfam00617
    Location:231405
    RasGEF; RasGEF domain
    pfam09279
    Location:10201071
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
  11. XM_017016312.2XP_016871801.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5

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