Gene Gene information from NCBI Gene database.
Entrez ID 51196
Gene name Phospholipase C epsilon 1
Gene symbol PLCE1
Synonyms (NCBI Gene)
NPHS3PLCEPPLC
Chromosome 10
Chromosome location 10q23.33
Summary 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.
15
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.
433
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IBA
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IDA 11022047, 11022048
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IEA
GO:0004629 Function Phospholipase C activity IDA 11022047
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608414 17175 ENSG00000138193
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
410
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Finnish congenital nephrotic syndrome Pathogenic rs2495460804 RCV004018324
Focal segmental glomerulosclerosis Likely pathogenic; Pathogenic rs1589475328 RCV001849443
Nephrotic syndrome Likely pathogenic; Pathogenic rs2136320656, rs2137512478, rs2132855762, rs2133127123, rs747229979, rs2133612592, rs2133673643, rs1589475328, rs2051495579 RCV001849870
RCV001849871
RCV001849873
RCV001849874
RCV001849875
RCV001849876
RCV001849877
RCV001849442
RCV001328253
Nephrotic syndrome, type 3 Pathogenic; Likely pathogenic rs750815297, rs2133104138, rs2133127091, rs548655036, rs918508213, rs2051691492, rs2134504108, rs941409069, rs2133537931, rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604
View all (16 more)
RCV005040257
RCV001535848
RCV001782649
RCV001823445
RCV002244205
RCV002244206
RCV002250248
RCV002250249
RCV002250848
RCV000002435
RCV000002436
RCV000002437
RCV000002438
RCV000002439
RCV000002440
RCV000002441
RCV005042925
RCV003324643
RCV003332929
RCV003388697
RCV004577605
RCV003484557
RCV000002442
RCV000002443
RCV000002444
RCV004577302
RCV000785963
RCV000790391
RCV000985026
RCV000988437
RCV000991397
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs886039891 -
Acute myeloid leukemia Conflicting classifications of pathogenicity rs149614492 RCV005913699
Cholangiocarcinoma Likely benign rs17506379 RCV005891916
Clear cell carcinoma of kidney Benign; Likely benign rs61749238 RCV005894005
Associations from Text MiningDisease associations identified through Pubtator
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