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Plce1
Gene Detail
Symbol

Name
ID
Plce1
phospholipase C, epsilon 1
MGI:1921305
Synonyms
4933403A21Rik, PLCepsilon
Feature Type
protein coding gene
Genetic Map
Chromosome 19
33.16 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr19:38481109-38785030 bp, + strand
From VEGA annotation of GRCm38

  303922 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9478  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PLCE1
Gene Tree: Plce1

Human
homologs
PLCE1, phospholipase C, epsilon 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 51196
neXtProt AC: NX_Q9P212

Human Synonyms: NPHS3, PLCE, PPLC

Human Chr (Location): 10q23; chr10:93993989-94328392 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PLCE1

Mutations,
alleles, and
phenotypes
All mutations/alleles(26) : Gene trapped(23) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Interactions
Plce1 interacts with 365 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process activation of MAPK activity, glomerulus development, ...
Component cytoplasm, cytosol, ...
Function enzyme binding, guanyl-nucleotide exchange factor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (116)    Tissues (109)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 104
RT-PCR 12
cDNA source data(60)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase plce1 ; ZFIN plce1    NEW 
Molecular
reagents
All nucleic(62) cDNA(60) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000043393 (Evidence)
Ensembl Gene Model ENSMUSG00000024998 (Evidence)
Entrez Gene 74055 (Evidence)
UniGene 34031
DoTS DT.101735386, DT.40175457, DT.87063310, DT.91394040, DT.94313635
NIA Mouse Gene Index U019426, U333857
EC 3.1.4.11
Consensus CDS Project CCDS37973.1
International Mouse Phenotyping Consortium Status Plce1
Sequences
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 sequences
All sequences(67) RefSeq(12) UniProt(4)
Polymorphisms
SNPs within 2kb(1864 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR011992 EF-hand-like domain
InterPro IPR001895 Guanine-nucleotide dissociation stimulator CDC25
InterPro IPR001192 Phosphoinositide phospholipase C
InterPro IPR000909 Phospholipase C, phosphatidylinositol-specific , X domain
InterPro IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
InterPro IPR015359 Phospholipase C, phosphoinositol-specific, EF-hand-like
InterPro IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain
InterPro IPR000159 Ras-association
InterPro IPR023578 Ras guanine nucleotide exchange factor, domain
Protein Ontology PR:000012835 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
References
(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:217782 Oldenburger A, et al., Epac1 and Epac2 are differentially involved in inflammatory and remodeling processes induced by cigarette smoke. FASEB J. 2014 Nov;28(11):4617-28
All references(46)

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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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory