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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
  • Alliance
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
  • 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
    UniProt: Q9P212

  • Chr Location
    10q23.33; chr10:93993989-94329447 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 9478
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PLCE1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 3 alleles in 4 genetic backgrounds
    20 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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    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
    • EC
    • InterPro Domains
      IPR028398 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
      IPR000008 C2 domain
      IPR035892 C2 domain superfamily
      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 superfamily
      IPR000159 Ras-associating (RA) domain
      IPR023578 Ras guanine nucleotide exchange factor domain superfamily
      IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
      IPR029071 Ubiquitin-like domain superfamily
    Molecular
    Reagents
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    • All nucleic 63
      cDNA 61
      Primer pair 1
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 7
      Gene Ontology 5
      Phenotypes 20
    • 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:250876 Zhu X, et al., Phospholipase Cepsilon deficiency delays the early stage of cutaneous wound healing and attenuates scar formation in mice. Biochem Biophys Res Commun. 2017 Feb 26;484(1):144-151

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory