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 zebrafish

Gene Tree: Plce1

Human homologs

Human Homolog		PLCE1, phospholipase C, epsilon 1
NCBI Gene ID		51196
neXtProt AC		NX_Q9P212
Human Synonyms		NPHS3, PLCE, PPLC
Human Chr (Location)		10q23; chr10:93993989-94328392 (+)  GRCh38
Disease Associations		(1) Diseases Associated with Human PLCE1

Alleles and phenotypes

All alleles(26) : Gene trapped(23) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 

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

All GO classifications: (32 annotations)

Process	activation of MAPK activity, glomerulus development, ...
Component	cytoplasm, cytosol, ...
Function	calcium ion binding, enzyme binding, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)

Data Summary: Results (116)    Tissues (109)    Images (6)
Theiler Stages: 17, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	104
RT-PCR	12

cDNA source data(60)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Plce1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000043393	VEGA Gene Model | MGI Sequence Detail	303922	C57BL/6J
transcript	OTTMUST00000113864	VEGA | MGI Sequence Detail	7234	Not Applicable
polypeptide	OTTMUSP00000063609	VEGA | MGI Sequence Detail	2296	Not Applicable

All sequences(61) RefSeq(6) UniProt(4)

Polymorphisms

SNPs within 2kb(1864 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:197247 Zhang L, et al., Phospholipase Cepsilon hydrolyzes perinuclear phosphatidylinositol 4-phosphate to regulate cardiac hypertrophy. Cell. 2013 Mar 28;153(1):216-27
All references(46)