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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
48
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Finnish congenital nephrotic syndrome Pathogenic rs2495460804 RCV004018324
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis Likely pathogenic; Pathogenic rs1589475328 RCV001849443
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome Likely pathogenic; Pathogenic rs2136320656, rs2137512478, rs2132855762, rs2133127123, rs747229979, rs2133612592, rs2133673643, rs1589475328, rs2051495579 RCV001849870
RCV001849871
RCV001849873
RCV001849874
RCV001849875
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (26 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma CTD_human_DG 20729852
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22805490, 28031722
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 23222411
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 20729852
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 20729852
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 20729852
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 17373700
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 20620593
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23077637, 23390063, 24254309, 24935391, 25041015, 25434319 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21909432
★☆☆☆☆
Found in Text Mining only