Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51196
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase C epsilon 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLCE1
Synonyms (NCBI Gene) Gene synonyms aliases
NPHS3, PLCE, PPLC
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NPHS3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121912601 C>T Pathogenic Stop gained, coding sequence variant
rs121912602 C>G,T Pathogenic Stop gained, missense variant, coding sequence variant
rs121912604 C>T Pathogenic Genic downstream transcript variant, stop gained, coding sequence variant
rs121912605 C>T Pathogenic Missense variant, coding sequence variant
rs267606954 C>T Pathogenic Coding sequence variant, genic upstream transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017291 hsa-miR-335-5p Microarray 18185580
MIRT024850 hsa-miR-215-5p Microarray 19074876
MIRT026288 hsa-miR-192-5p Microarray 19074876
MIRT713660 hsa-miR-5000-5p HITS-CLIP 19536157
MIRT713659 hsa-miR-584-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000187 Process Activation of MAPK activity IDA 11022047
GO:0001558 Process Regulation of cell growth TAS 11022047
GO:0004435 Function Phosphatidylinositol phospholipase C activity IBA 21873635
GO:0004435 Function Phosphatidylinositol phospholipase C activity IDA 11022047, 11022048
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608414 17175 ENSG00000138193
Protein
UniProt ID Q9P212
Protein 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)
Protein function The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates smal
PDB 2BYE , 2BYF , 2C5L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00617 RasGEF 534 762 RasGEF domain Family
PF09279 EF-hand_like 1323 1381 Phosphoinositide-specific phospholipase C, efhand-like Domain
PF00388 PI-PLC-X 1394 1541 Phosphatidylinositol-specific phospholipase C, X domain Family
PF00387 PI-PLC-Y 1740 1844 Phosphatidylinositol-specific phospholipase C, Y domain Family
PF00168 C2 1870 1971 C2 domain Domain
PF00788 RA 2135 2238 Ras association (RalGDS/AF-6) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in podocytes (PubMed:29058690). {ECO:0000269|PubMed:15558028, ECO:0000269|PubMed:29058690}.; TISSUE SPECIFICITY: [Isoform 1]: Broadly expressed and only absent in peripheral blood leukocytes. {ECO:0000269|Pu
Sequence
MTSEEMTASVLIPVTQRKVVSAQSAADESSEKVSDINISKAHTVRRSGETSHTISQLNKL
KEEPSGSNLPKILSIAREKIVSDENSNEKCWEKIMPDSAKNLNINCNNILRNHQHGLPQR
QFYEMYNSVAEEDLCLETGIPSPLERKVFPGIQLELDRPSMGISPLGNQSVIIETGRAHP
DSRRAVFHFHYEVDRRMSDTFCTLSENLILDDCGNCVPLPGGEEKQKKNYVAYTCKLMEL
AKNCDNKNEQLQCDHCDTLNDKYFCFEGSCEKVDMVYSGDSFCRKDFTDSQAAKTFLSHF
EDFPDNCDDVEEDAFKSKKERSTLLVRRFCKNDREVKKSVYTGTRAIVRTLPSGHIGLTA
WSYIDQKRNGPLLPCGRVMEPPSTVEIRQDGSQRLSEAQWYPIYNAVRREETENTVGSLL
HFLTKLPASETAHGRISVGPCLKQCVRDTVCEYRATLQRTSISQYITGSLLEATTSLGAR
SGLLSTFGGSTGRMMLKERQPGPSVANSNALPSSSAGISKELIDLQPLIQFPEEVASILM
EQEQTIYRRVLPVDYLCFLTRDLGTPECQSSLPCLKASISASILTTQNGEHNALEDLVMR
FNEVSSWVTWLILTAGSMEEKREVFSYLVHVAKCCWNMGNYNAVMEFLAGLRSRKVLKMW
QFMDQSDIETMRSLKDAMAQHESSCEYRKVVTRALHIPGCKVVPFCGVFLKELCEVLDGA
SGLMKLCPRYNSQEETLEFVADYSGQDNFLQRVGQNGLKNSE
KESTVNSIFQVIRSCNRS
LETDEEDSPSEGNSSRKSSLKDKSRWQFIIGDLLDSDNDIFEQSKEYDSHGSEDSQKAFD
HGTELIPWYVLSIQADVHQFLLQGATVIHYDQDTHLSARCFLQLQPDNSTLTWVKPTTAS
PASSKAKLGVLNNTAEPGKFPLLGNAGLSSLTEGVLDLFAVKAVYMGHPGIDIHTVCVQN
KLGSMFLSETGVTLLYGLQTTDNRLLHFVAPKHTAKMLFSGLLELTRAVRKMRKFPDQRQ
QWLRKQYVSLYQEDGRYEGPTLAHAVELFGGRRWSARNPSPGTSAKNAEKPNMQRNNTLG
ISTTKKKKKILMRGESGEVTDDEMATRKAKMHKECRSRSGSDPQDINEQEESEVNAIANP
PNPLPSRRAHSLTTAGSPNLAAGTSSPIRPVSSPVLSSSNKSPSSAWSSSSWHGRIKGGM
KGFQSFMVSDSNMSFVEFVELFKSFSVRSRKDLKDLFDVYAVPCNRSGSESAPLYTNLTI
DENTSDLQPDLDLLTRNVSDLGLFIKSKQQLSDNQRQISDAIAAASIVTNGTGIESTSLG
IFGVGILQLNDFLVNCQGEHCTYDEILSIIQKFEPSISMCHQGLMSFEGFARFLMDKENF
A
SKNDESQENIKELQLPLSYYYIESSHNTYLTGHQLKGESSVELYSQVLLQGCRSVELDC
WDGDDGMPIIYHGHTLTTKIPFKEVVEAIDRSAFINSDLPIIISIENHCSLPQQRKMAEI
FKTVFGEKLVTKFLFETDFSDDPMLPSPDQLRKKVLLKNKK
LKAHQTPVDILKQKAHQLA
SMQVQAYNGGNANPRPANNEEEEDEEDEYDYDYESLSDDNILEDRPENKSCNDKLQFEYN
EEIPKRIKKADNSACNKGKVYDMELGEEFYLDQNKKESRQIAPELSDLVIYCQAVKFPGL
STLNASGSSRGKERKSRKSIFGNNPGRMSPGETASFNKTSGKSSCEGIRQTWEESSSPLN
PTTSLSAIIRTPKCYHISSLNENAAKRLCRRYSQKLTQHTACQLLRTYPAATRIDSSNPN
PLMFWLHGIQLVALNYQTDDLPLHLNAAMFEANGGCGYVLKPPV
LWDKNCPMYQKFSPLE
RDLDSMDPAVYSLTIVSGQNVCPSNSMGSPCIEVDVLGMPLDSCHFRTKPIHRNTLNPMW
NEQFLFHVHFEDLVFLRFAVVENNSSAVTAQRIIPLKALKRGYRHLQLRNL
HNEVLEISS
LFINSRRMEENSSGNTMSASSMFNTEERKCLQTHRVTVHGVPGPEPFTVFTINGGTKAKQ
LLQQILTNEQDIKPVTTDYFLMEEKYFISKEKNECRKQPFQRAIGPEEEIMQILSSWFPE
EGYMGRIVLKTQQENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVST
AQDVIQQTLCKAKYSYSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQ
AQSKWKGAGKFILKLKEQ
VQASREDKKKGISFASELKKLTKSTKQPRGLTSPSQLLTSES
IQTKEEKPVGGLSSSDTMDYRQ
Sequence length 2302
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Nephrotic Syndrome familial idiopathic steroid-resistant nephrotic syndrome GenCC
Hypertension Hypertension GWAS
Glaucoma Glaucoma GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 30931333
Carcinogenesis Associate 23077637, 23390063, 24254309, 24935391, 25041015, 25434319
Carcinoma Hepatocellular Associate 28418898, 32323856, 34967552
Carcinoma Non Small Cell Lung Associate 31364122, 35220468
Cardiotoxicity Inhibit 28851949
Colitis Ulcerative Associate 37843347
Colorectal Neoplasms Inhibit 21909432
Colorectal Neoplasms Associate 24146276, 24496148, 34959120, 35349390, 37843347
Death Associate 28418898
Diabetic Nephropathies Inhibit 37916327