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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
  • Candidate for QTL
    6 QTL
Location &
Maps
more
  • Sequence Map
    Chr19:38469557-38773474 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 33.16 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8888 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921305
 protein coding gene Chr19:38469438-38773549 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025093
 protein coding gene Chr19:37536972-37861280 (+)
A/J MGP_AJ_G0025069
 protein coding gene Chr19:35705343-36032646 (+)
AKR/J MGP_AKRJ_G0025037
 protein coding gene Chr19:36906192-37222159 (+)
BALB/cJ MGP_BALBcJ_G0025067
 protein coding gene Chr19:35815345-36132650 (+)
C3H/HeJ MGP_C3HHeJ_G0024826
 protein coding gene Chr19:37001401-37341519 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025508
 protein coding gene Chr19:38614721-38945688 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022927
 protein coding gene Chr19:35056937-35353084 (+)
CAST/EiJ MGP_CASTEiJ_G0024293
 protein coding gene Chr19:36874639-37199269 (+)
CBA/J MGP_CBAJ_G0024803
 protein coding gene Chr19:40418546-40778361 (+)
DBA/2J MGP_DBA2J_G0024935
 protein coding gene Chr19:35560314-35867866 (+)
FVB/NJ MGP_FVBNJ_G0024896
 protein coding gene Chr19:35384431-35698478 (+)
LP/J MGP_LPJ_G0025021
 protein coding gene Chr19:37621088-37952960 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024927
 protein coding gene Chr19:40175424-40509820 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025566
 protein coding gene Chr19:37025363-37352077 (+)
PWK/PhJ MGP_PWKPhJ_G0024045
 protein coding gene Chr19:35427765-35744257 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023845
 protein coding gene Chr19:35857031-36189411 (+)
WSB/EiJ MGP_WSBEiJ_G0024360
 protein coding gene Chr19:37111124-37441471 (+)



Homology
more
  • Human Ortholog
    PLCE1, phospholipase C epsilon 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PLCE1, phospholipase C epsilon 1
  • Synonyms
    NPHS3, PLCE, PPLC
  • Links
    NCBI Gene ID: 51196
    neXtProt AC: NX_Q9P212
    UniProt: Q9P212

  • Chr Location
    10q23.33; chr10:93993931-94332823 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human PLCE1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 4 alleles in 5 genetic backgrounds
    30 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
    41
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    855
  • Tissues
    133
  • cDNA Data
    64
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024998 Ensembl Gene Model | MGI Sequence Detail 303918 C57BL/6J ±  kb
    transcript ENSMUST00000182267 Ensembl | MGI Sequence Detail 7234 Not Applicable  
    polypeptide ENSMUSP00000138330 Ensembl | MGI Sequence Detail 2296 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000012835 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
      (term hierarchy)
    • EC
      3.1.4.11
    • InterPro Domains
      IPR046973 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, catalytic domain
      IPR046974 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, EF-hand domain
      IPR028398 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, RA domain 2
      IPR000008 C2 domain
      IPR035892 C2 domain superfamily
      IPR011992 EF-hand domain pair
      IPR000909 Phosphatidylinositol-specific phospholipase C, X domain
      IPR001192 Phosphoinositide phospholipase C family
      IPR015359 Phosphoinositide-specific phospholipase C, EF-hand-like domain
      IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
      IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
      IPR000159 Ras-associating domain
      IPR036964 Ras guanine-nucleotide exchange factor, catalytic domain superfamily
      IPR023578 Ras guanine nucleotide exchange factor domain superfamily
      IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
      IPR029071 Ubiquitin-like domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 66
      cDNA 64
      Primer pair 1
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 7
      Gene Ontology 9
      Phenotypes 30
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory