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Plce1 Gene Detail
Summary
  • Symbol
    Plce1
  • Name
    phospholipase C, epsilon 1
  • Synonyms
    4933403A21Rik, PLCepsilon
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921305
    NCBI Gene: 74055
  • Gene Overview
    MyGene.info: PLCE1
Location & Maps
more
  • Sequence Map
    Chr19:38481109-38785030 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      303922 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 33.16 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PLCE1, phospholipase C epsilon 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PLCE1, phospholipase C epsilon 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NPHS3, PLCE, PPLC
  • Links
    NCBI Gene ID: 51196
    neXtProt AC: NX_Q9P212

  • Chr Location
    10q23; chr10:93993989-94328392 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 9478
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: PLCE1
  • Gene Tree
    Plce1
Human Diseases
more
  • Diseases
    1 with human PLCE1 associations

Human Disease Mouse Models
       Nephrotic Syndrome, Type 3; NPHS3   OMIM: 610725
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 3 alleles in 4 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    116
  • Tissues
    109
  • cDNA Data
    60
  • Literature Summary
    7
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000043393 VEGA Gene Model | MGI Sequence Detail 303922 C57BL/6J ±  kb
transcript OTTMUST00000113864 VEGA | MGI Sequence Detail 7234 Not Applicable  
polypeptide OTTMUSP00000063609 VEGA | MGI Sequence Detail 2296 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1842 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000012835 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
  • EC
    3.1.4.11
  • InterPro Domains
    IPR028398 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
    IPR000008 C2 domain
    IPR011992 EF-hand domain pair
    IPR000909 Phosphatidylinositol-specific phospholipase C, X domain
    IPR001192 Phosphoinositide phospholipase C family
    IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
    IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain
    IPR000159 Ras-associating (RA) domain
    IPR023578 Ras guanine nucleotide exchange factor domain
    IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
    IPR029071 Ubiquitin-related domain
Molecular
Reagents
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  • All nucleic 62
    cDNA 60
    Primer pair 1
    Other 1

    Microarray probesets 4
References
more
  • Summaries
    All 47
    Developmental Gene Expression 7
    Gene Ontology 4
    Phenotypes 17
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:226941 Akerberg BN, et al., Endocardial Brg1 disruption illustrates the developmental origins of semilunar valve disease. Dev Biol. 2015 Nov 1;407(1):158-72
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory