• Gene id: 51196

Gene Summary

• Gene Symbol: PLCE1   Gene   UCSC   Ensembl
• Aliases: NPHS3, PLCE, PPLC
• Gene name: phospholipase C epsilon 1
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, PLC-epsilon-1, pancreas-enriched phospholipase C, phosphoinositide phospholipase C, phosphoinositide phospholipase C-epsilon-1, phosphoinositide-specific phospholipase C epsilon-1,
• Gene location: 10q23.33 (93993930: 94332822)     Exons: 39     NC_000010.11
• Gene summary(Entrez): This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate va
• OMIM: 608414

Protein Summary

• Protein general information: Q9P212  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase epsilon 1 (EC 3.1.4.11) (Pancreas enriched phospholipase C) (Phosphoinositide phospholipase C epsilon 1) (Phospholipase C epsilon 1) (PLC epsilon 1)
  • Length: 2302  
  • Mass: 258715
  • Tissue specificity: Widely expressed. Expressed in podocytes (PubMed
• Sequence:

  MTSEEMTASVLIPVTQRKVVSAQSAADESSEKVSDINISKAHTVRRSGETSHTISQLNKLKEEPSGSNLPKILSI
  AREKIVSDENSNEKCWEKIMPDSAKNLNINCNNILRNHQHGLPQRQFYEMYNSVAEEDLCLETGIPSPLERKVFP
  GIQLELDRPSMGISPLGNQSVIIETGRAHPDSRRAVFHFHYEVDRRMSDTFCTLSENLILDDCGNCVPLPGGEEK
  QKKNYVAYTCKLMELAKNCDNKNEQLQCDHCDTLNDKYFCFEGSCEKVDMVYSGDSFCRKDFTDSQAAKTFLSHF
  EDFPDNCDDVEEDAFKSKKERSTLLVRRFCKNDREVKKSVYTGTRAIVRTLPSGHIGLTAWSYIDQKRNGPLLPC
  GRVMEPPSTVEIRQDGSQRLSEAQWYPIYNAVRREETENTVGSLLHFLTKLPASETAHGRISVGPCLKQCVRDTV
  CEYRATLQRTSISQYITGSLLEATTSLGARSGLLSTFGGSTGRMMLKERQPGPSVANSNALPSSSAGISKELIDL
  QPLIQFPEEVASILMEQEQTIYRRVLPVDYLCFLTRDLGTPECQSSLPCLKASISASILTTQNGEHNALEDLVMR
  FNEVSSWVTWLILTAGSMEEKREVFSYLVHVAKCCWNMGNYNAVMEFLAGLRSRKVLKMWQFMDQSDIETMRSLK
  DAMAQHESSCEYRKVVTRALHIPGCKVVPFCGVFLKELCEVLDGASGLMKLCPRYNSQEETLEFVADYSGQDNFL
  QRVGQNGLKNSEKESTVNSIFQVIRSCNRSLETDEEDSPSEGNSSRKSSLKDKSRWQFIIGDLLDSDNDIFEQSK
  EYDSHGSEDSQKAFDHGTELIPWYVLSIQADVHQFLLQGATVIHYDQDTHLSARCFLQLQPDNSTLTWVKPTTAS
  PASSKAKLGVLNNTAEPGKFPLLGNAGLSSLTEGVLDLFAVKAVYMGHPGIDIHTVCVQNKLGSMFLSETGVTLL
  YGLQTTDNRLLHFVAPKHTAKMLFSGLLELTRAVRKMRKFPDQRQQWLRKQYVSLYQEDGRYEGPTLAHAVELFG
  GRRWSARNPSPGTSAKNAEKPNMQRNNTLGISTTKKKKKILMRGESGEVTDDEMATRKAKMHKECRSRSGSDPQD
  INEQEESEVNAIANPPNPLPSRRAHSLTTAGSPNLAAGTSSPIRPVSSPVLSSSNKSPSSAWSSSSWHGRIKGGM
  KGFQSFMVSDSNMSFVEFVELFKSFSVRSRKDLKDLFDVYAVPCNRSGSESAPLYTNLTIDENTSDLQPDLDLLT
  RNVSDLGLFIKSKQQLSDNQRQISDAIAAASIVTNGTGIESTSLGIFGVGILQLNDFLVNCQGEHCTYDEILSII
  QKFEPSISMCHQGLMSFEGFARFLMDKENFASKNDESQENIKELQLPLSYYYIESSHNTYLTGHQLKGESSVELY
  SQVLLQGCRSVELDCWDGDDGMPIIYHGHTLTTKIPFKEVVEAIDRSAFINSDLPIIISIENHCSLPQQRKMAEI
  FKTVFGEKLVTKFLFETDFSDDPMLPSPDQLRKKVLLKNKKLKAHQTPVDILKQKAHQLASMQVQAYNGGNANPR
  PANNEEEEDEEDEYDYDYESLSDDNILEDRPENKSCNDKLQFEYNEEIPKRIKKADNSACNKGKVYDMELGEEFY
  LDQNKKESRQIAPELSDLVIYCQAVKFPGLSTLNASGSSRGKERKSRKSIFGNNPGRMSPGETASFNKTSGKSSC
  EGIRQTWEESSSPLNPTTSLSAIIRTPKCYHISSLNENAAKRLCRRYSQKLTQHTACQLLRTYPAATRIDSSNPN
  PLMFWLHGIQLVALNYQTDDLPLHLNAAMFEANGGCGYVLKPPVLWDKNCPMYQKFSPLERDLDSMDPAVYSLTI
  VSGQNVCPSNSMGSPCIEVDVLGMPLDSCHFRTKPIHRNTLNPMWNEQFLFHVHFEDLVFLRFAVVENNSSAVTA
  QRIIPLKALKRGYRHLQLRNLHNEVLEISSLFINSRRMEENSSGNTMSASSMFNTEERKCLQTHRVTVHGVPGPE
  PFTVFTINGGTKAKQLLQQILTNEQDIKPVTTDYFLMEEKYFISKEKNECRKQPFQRAIGPEEEIMQILSSWFPE
  EGYMGRIVLKTQQENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQTLCKAKYS
  YSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGI
  SFASELKKLTKSTKQPRGLTSPSQLLTSESIQTKEEKPVGGLSSSDTMDYRQ

• Structural information:
  • Protein Domains: (531..79-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168-)
    (1392..154-)
    (/note="PI-PLC-X-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00270-)
    (1730..184-)
    (/note="PI-PLC-Y-box)
    (/evidence="ECO:0000255|PROSITE-Pr-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR001192  IPR028398   IPR017946  IPR015359  IPR000909  IPR001711  IPR000159  IPR023578  IPR001895  IPR029071  
  • Prosite: PS50004 PS50007 PS50008 PS50200 PS50009
  • PDB: 2BYE 2BYF 2C5L
  • PDBsum: 2BYE 2BYF 2C5L
  • STRING: ENSP00000360431
• Other Databases: GeneCards:  PLCE1  Malacards:  PLCE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032835	glomerulus development	IMP	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0030027	lamellipodium	IDA	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0006651	diacylglycerol biosynthetic process	IMP	biological process
GO:0010592	positive regulation of lamellipodium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0046578	regulation of Ras protein signal transduction	IDA	biological process
GO:0017016	Ras GTPase binding	IDA	molecular function
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0000187	activation of MAPK activity	IDA	biological process
GO:0045859	regulation of protein kinase activity	IDA	biological process
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IDA	biological process
GO:0007265	Ras protein signal transduction	IDA	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IDA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0004629	phospholipase C activity	IDA	molecular function
GO:0048016	inositol phosphate-mediated signaling	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	NAS	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0019722	calcium-mediated signaling	TAS	biological process
GO:0019722	calcium-mediated signaling	NAS	biological process
GO:0007507	heart development	TAS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	TAS	biological process
GO:0006651	diacylglycerol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006940	regulation of smooth muscle contraction	TAS	biological process
GO:0001558	regulation of cell growth	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05131	Shigellosis
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa05205	Proteoglycans in cancer
hsa04070	Phosphatidylinositol signaling system
hsa04919	Thyroid hormone signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Nephrotic syndrome	KEGG:H01657
Nephrotic syndrome	KEGG:H01657
Nephrotic syndrome type 2	PMID:20591883
Nephrotic syndrome	PMID:17086182
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq