UniProtKB - Q9P212 (PLCE1_HUMAN)
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
PLCE1
Functioni
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 small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation. In podocytes, is involved in the regulation of lamellipodia formation. Acts downtream of AVIL to allow ARP2/3 complex assembly (PubMed:29058690).
8 PublicationsCatalytic activityi
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H+2 PublicationsEC:3.1.4.112 Publications
Cofactori
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 1407 | PROSITE-ProRule annotation | 1 | |
Active sitei | 1452 | PROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- enzyme binding Source: UniProtKB
- guanyl-nucleotide exchange factor activity Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- phosphatidylinositol phospholipase C activity Source: UniProtKB
- phospholipase C activity Source: UniProtKB
- small GTPase binding Source: UniProtKB
GO - Biological processi
- calcium-mediated signaling Source: UniProtKB
- cytoskeleton organization Source: UniProtKB
- diacylglycerol biosynthetic process Source: UniProtKB
- epidermal growth factor receptor signaling pathway Source: UniProtKB
- glomerulus development Source: HGNC-UCL
- heart development Source: UniProtKB
- inositol phosphate-mediated signaling Source: UniProtKB
- lipid catabolic process Source: UniProtKB-KW
- phosphatidylinositol-mediated signaling Source: GO_Central
- phospholipase C-activating G protein-coupled receptor signaling pathway Source: UniProtKB
- positive regulation of cytosolic calcium ion concentration Source: UniProtKB
- positive regulation of lamellipodium assembly Source: UniProtKB
- positive regulation of MAPK cascade Source: UniProtKB
- Ras protein signal transduction Source: UniProtKB
- regulation of cell growth Source: UniProtKB
- regulation of G protein-coupled receptor signaling pathway Source: UniProtKB
- regulation of protein kinase activity Source: UniProtKB
- regulation of Ras protein signal transduction Source: UniProtKB
- regulation of smooth muscle contraction Source: UniProtKB
Keywordsi
Molecular function | Guanine-nucleotide releasing factor, Hydrolase, Transducer |
Biological process | Lipid degradation, Lipid metabolism |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
BRENDAi | 3.1.4.11, 2681 |
PathwayCommonsi | Q9P212 |
Reactomei | R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol |
SignaLinki | Q9P212 |
SIGNORi | Q9P212 |
Chemistry databases
SwissLipidsi | SLP:000000663 |
Names & Taxonomyi
Protein namesi | Recommended name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1Curated (EC:3.1.4.112 Publications)Alternative name(s): Pancreas-enriched phospholipase C Phosphoinositide phospholipase C-epsilon-1 Phospholipase C-epsilon-1 Short name: PLC-epsilon-1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17175, PLCE1 |
MIMi | 608414, gene |
neXtProti | NX_Q9P212 |
VEuPathDBi | HostDB:ENSG00000138193 |
Subcellular locationi
Plasma membrane
Golgi apparatus
Cytoplasm and Cytosol
Other locations
- lamellipodium 1 Publication
Note: Recruited to plasma membrane by activated HRAS and RAP2. Recruited to perinuclear membrane by activated RAP1A. Isoform 1 and isoform 2 associates with Golgi membranes.
Cytosol
- cytosol Source: UniProtKB
Golgi apparatus
- Golgi membrane Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- lamellipodium Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Nephrotic syndrome 3 (NPHS3)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029883 | 1484 | S → L in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis. 1 PublicationCorresponds to variant dbSNP:rs121912605EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1452 | H → L: Loss of the phospholipase C enzymatic activity. Still activates HRAS and the MAP kinase pathway. 1 Publication | 1 | |
Mutagenesisi | 2140 | Q → E: Increases 2.8-fold the affinity for HRAS. 1 Publication | 1 | |
Mutagenesisi | 2148 | Q → E: Decreases 17.5-fold the affinity for HRAS. 1 Publication | 1 | |
Mutagenesisi | 2148 | Q → K: Increases 1.4-fold the affinity for HRAS. 1 Publication | 1 | |
Mutagenesisi | 2150 | R → L: Abolishes interaction with HRAS. 1 Publication | 1 | |
Mutagenesisi | 2171 | K → L: No effect on HRAS-binding. 1 Publication | 1 | |
Mutagenesisi | 2174 | Y → L: Reduces HRAS-binding. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 51196 |
MalaCardsi | PLCE1 |
MIMi | 610725, phenotype |
OpenTargetsi | ENSG00000138193 |
Orphaneti | 656, Genetic steroid-resistant nephrotic syndrome |
PharmGKBi | PA33391 |
Miscellaneous databases
Pharosi | Q9P212, Tbio |
Genetic variation databases
BioMutai | PLCE1 |
DMDMi | 118595723 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000256238 | 1 – 2302 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1Add BLAST | 2302 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1096 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9P212 |
jPOSTi | Q9P212 |
MassIVEi | Q9P212 |
MaxQBi | Q9P212 |
PaxDbi | Q9P212 |
PeptideAtlasi | Q9P212 |
PRIDEi | Q9P212 |
ProteomicsDBi | 83705 [Q9P212-1] 83706 [Q9P212-2] |
PTM databases
GlyGeni | Q9P212, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9P212 |
PhosphoSitePlusi | Q9P212 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000138193, Expressed in metanephric glomerulus and 228 other tissues |
Genevisiblei | Q9P212, HS |
Organism-specific databases
HPAi | ENSG00000138193, Low tissue specificity |
Interactioni
Subunit structurei
GO - Molecular functioni
- enzyme binding Source: UniProtKB
- small GTPase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 119370, 15 interactors |
IntActi | Q9P212, 6 interactors |
STRINGi | 9606.ENSP00000360431 |
Miscellaneous databases
RNActi | Q9P212, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9P212 |
BMRBi | Q9P212 |
SMRi | Q9P212 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9P212 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 531 – 790 | Ras-GEFPROSITE-ProRule annotationAdd BLAST | 260 | |
Domaini | 1392 – 1540 | PI-PLC X-boxPROSITE-ProRule annotationAdd BLAST | 149 | |
Domaini | 1730 – 1846 | PI-PLC Y-boxPROSITE-ProRule annotationAdd BLAST | 117 | |
Domaini | 1851 – 1976 | C2PROSITE-ProRule annotationAdd BLAST | 126 | |
Domaini | 2012 – 2114 | Ras-associating 1PROSITE-ProRule annotationAdd BLAST | 103 | |
Domaini | 2135 – 2238 | Ras-associating 2PROSITE-ProRule annotationAdd BLAST | 104 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1053 – 1192 | DisorderedSequence analysisAdd BLAST | 140 | |
Regioni | 1567 – 1591 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 1683 – 1743 | DisorderedSequence analysisAdd BLAST | 61 | |
Regioni | 1686 – 1764 | Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gammaBy similarityAdd BLAST | 79 | |
Regioni | 2260 – 2302 | DisorderedSequence analysisAdd BLAST | 43 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1057 – 1084 | Polar residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 1088 – 1125 | Basic and acidic residuesSequence analysisAdd BLAST | 38 | |
Compositional biasi | 1146 – 1192 | Polar residuesSequence analysisAdd BLAST | 47 | |
Compositional biasi | 1702 – 1743 | Polar residuesSequence analysisAdd BLAST | 42 |
Domaini
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0169, Eukaryota |
GeneTreei | ENSGT00940000157356 |
HOGENOMi | CLU_001158_0_0_1 |
InParanoidi | Q9P212 |
OMAi | DLYAVPC |
OrthoDBi | 368239at2759 |
PhylomeDBi | Q9P212 |
TreeFami | TF314432 |
Family and domain databases
Gene3Di | 1.10.840.10, 1 hit 2.60.40.150, 1 hit 3.20.20.190, 1 hit |
InterProi | View protein in InterPro IPR000008, C2_dom IPR035892, C2_domain_sf IPR011992, EF-hand-dom_pair IPR001192, PI-PLC_fam IPR028398, PLC-epsilon1 IPR017946, PLC-like_Pdiesterase_TIM-brl IPR015359, PLC_EF-hand-like IPR000909, PLipase_C_PInositol-sp_X_dom IPR001711, PLipase_C_Pinositol-sp_Y IPR000159, RA_dom IPR023578, Ras_GEF_dom_sf IPR001895, RASGEF_cat_dom IPR036964, RASGEF_cat_dom_sf IPR029071, Ubiquitin-like_domsf |
PANTHERi | PTHR10336, PTHR10336, 2 hits PTHR10336:SF6, PTHR10336:SF6, 2 hits |
Pfami | View protein in Pfam PF00168, C2, 1 hit PF09279, EF-hand_like, 1 hit PF00388, PI-PLC-X, 1 hit PF00387, PI-PLC-Y, 1 hit PF00788, RA, 1 hit PF00617, RasGEF, 1 hit |
PRINTSi | PR00390, PHPHLIPASEC |
SMARTi | View protein in SMART SM00239, C2, 1 hit SM00148, PLCXc, 1 hit SM00149, PLCYc, 1 hit SM00314, RA, 1 hit SM00147, RasGEF, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF48366, SSF48366, 1 hit SSF49562, SSF49562, 1 hit SSF51695, SSF51695, 1 hit SSF54236, SSF54236, 2 hits |
PROSITEi | View protein in PROSITE PS50004, C2, 1 hit PS50007, PIPLC_X_DOMAIN, 1 hit PS50008, PIPLC_Y_DOMAIN, 1 hit PS50200, RA, 1 hit PS50009, RASGEF_CAT, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTSEEMTASV LIPVTQRKVV SAQSAADESS EKVSDINISK AHTVRRSGET
60 70 80 90 100
SHTISQLNKL KEEPSGSNLP KILSIAREKI VSDENSNEKC WEKIMPDSAK
110 120 130 140 150
NLNINCNNIL RNHQHGLPQR QFYEMYNSVA EEDLCLETGI PSPLERKVFP
160 170 180 190 200
GIQLELDRPS MGISPLGNQS VIIETGRAHP DSRRAVFHFH YEVDRRMSDT
210 220 230 240 250
FCTLSENLIL DDCGNCVPLP GGEEKQKKNY VAYTCKLMEL AKNCDNKNEQ
260 270 280 290 300
LQCDHCDTLN DKYFCFEGSC EKVDMVYSGD SFCRKDFTDS QAAKTFLSHF
310 320 330 340 350
EDFPDNCDDV EEDAFKSKKE RSTLLVRRFC KNDREVKKSV YTGTRAIVRT
360 370 380 390 400
LPSGHIGLTA WSYIDQKRNG PLLPCGRVME PPSTVEIRQD GSQRLSEAQW
410 420 430 440 450
YPIYNAVRRE ETENTVGSLL HFLTKLPASE TAHGRISVGP CLKQCVRDTV
460 470 480 490 500
CEYRATLQRT SISQYITGSL LEATTSLGAR SGLLSTFGGS TGRMMLKERQ
510 520 530 540 550
PGPSVANSNA LPSSSAGISK ELIDLQPLIQ FPEEVASILM EQEQTIYRRV
560 570 580 590 600
LPVDYLCFLT RDLGTPECQS SLPCLKASIS ASILTTQNGE HNALEDLVMR
610 620 630 640 650
FNEVSSWVTW LILTAGSMEE KREVFSYLVH VAKCCWNMGN YNAVMEFLAG
660 670 680 690 700
LRSRKVLKMW QFMDQSDIET MRSLKDAMAQ HESSCEYRKV VTRALHIPGC
710 720 730 740 750
KVVPFCGVFL KELCEVLDGA SGLMKLCPRY NSQEETLEFV ADYSGQDNFL
760 770 780 790 800
QRVGQNGLKN SEKESTVNSI FQVIRSCNRS LETDEEDSPS EGNSSRKSSL
810 820 830 840 850
KDKSRWQFII GDLLDSDNDI FEQSKEYDSH GSEDSQKAFD HGTELIPWYV
860 870 880 890 900
LSIQADVHQF LLQGATVIHY DQDTHLSARC FLQLQPDNST LTWVKPTTAS
910 920 930 940 950
PASSKAKLGV LNNTAEPGKF PLLGNAGLSS LTEGVLDLFA VKAVYMGHPG
960 970 980 990 1000
IDIHTVCVQN KLGSMFLSET GVTLLYGLQT TDNRLLHFVA PKHTAKMLFS
1010 1020 1030 1040 1050
GLLELTRAVR KMRKFPDQRQ QWLRKQYVSL YQEDGRYEGP TLAHAVELFG
1060 1070 1080 1090 1100
GRRWSARNPS PGTSAKNAEK PNMQRNNTLG ISTTKKKKKI LMRGESGEVT
1110 1120 1130 1140 1150
DDEMATRKAK MHKECRSRSG SDPQDINEQE ESEVNAIANP PNPLPSRRAH
1160 1170 1180 1190 1200
SLTTAGSPNL AAGTSSPIRP VSSPVLSSSN KSPSSAWSSS SWHGRIKGGM
1210 1220 1230 1240 1250
KGFQSFMVSD SNMSFVEFVE LFKSFSVRSR KDLKDLFDVY AVPCNRSGSE
1260 1270 1280 1290 1300
SAPLYTNLTI DENTSDLQPD LDLLTRNVSD LGLFIKSKQQ LSDNQRQISD
1310 1320 1330 1340 1350
AIAAASIVTN GTGIESTSLG IFGVGILQLN DFLVNCQGEH CTYDEILSII
1360 1370 1380 1390 1400
QKFEPSISMC HQGLMSFEGF ARFLMDKENF ASKNDESQEN IKELQLPLSY
1410 1420 1430 1440 1450
YYIESSHNTY LTGHQLKGES SVELYSQVLL QGCRSVELDC WDGDDGMPII
1460 1470 1480 1490 1500
YHGHTLTTKI PFKEVVEAID RSAFINSDLP IIISIENHCS LPQQRKMAEI
1510 1520 1530 1540 1550
FKTVFGEKLV TKFLFETDFS DDPMLPSPDQ LRKKVLLKNK KLKAHQTPVD
1560 1570 1580 1590 1600
ILKQKAHQLA SMQVQAYNGG NANPRPANNE EEEDEEDEYD YDYESLSDDN
1610 1620 1630 1640 1650
ILEDRPENKS CNDKLQFEYN EEIPKRIKKA DNSACNKGKV YDMELGEEFY
1660 1670 1680 1690 1700
LDQNKKESRQ IAPELSDLVI YCQAVKFPGL STLNASGSSR GKERKSRKSI
1710 1720 1730 1740 1750
FGNNPGRMSP GETASFNKTS GKSSCEGIRQ TWEESSSPLN PTTSLSAIIR
1760 1770 1780 1790 1800
TPKCYHISSL NENAAKRLCR RYSQKLTQHT ACQLLRTYPA ATRIDSSNPN
1810 1820 1830 1840 1850
PLMFWLHGIQ LVALNYQTDD LPLHLNAAMF EANGGCGYVL KPPVLWDKNC
1860 1870 1880 1890 1900
PMYQKFSPLE RDLDSMDPAV YSLTIVSGQN VCPSNSMGSP CIEVDVLGMP
1910 1920 1930 1940 1950
LDSCHFRTKP IHRNTLNPMW NEQFLFHVHF EDLVFLRFAV VENNSSAVTA
1960 1970 1980 1990 2000
QRIIPLKALK RGYRHLQLRN LHNEVLEISS LFINSRRMEE NSSGNTMSAS
2010 2020 2030 2040 2050
SMFNTEERKC LQTHRVTVHG VPGPEPFTVF TINGGTKAKQ LLQQILTNEQ
2060 2070 2080 2090 2100
DIKPVTTDYF LMEEKYFISK EKNECRKQPF QRAIGPEEEI MQILSSWFPE
2110 2120 2130 2140 2150
EGYMGRIVLK TQQENLEEKN IVQDDKEVIL SSEEESFFVQ VHDVSPEQPR
2160 2170 2180 2190 2200
TVIKAPRVST AQDVIQQTLC KAKYSYSILS NPNPSDYVLL EEVVKDTTNK
2210 2220 2230 2240 2250
KTTTPKSSQR VLLDQECVFQ AQSKWKGAGK FILKLKEQVQ ASREDKKKGI
2260 2270 2280 2290 2300
SFASELKKLT KSTKQPRGLT SPSQLLTSES IQTKEEKPVG GLSSSDTMDY
RQ
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB7ZM61 | B7ZM61_HUMAN | Phosphoinositide phospholipase C | PLCE1 | 2,286 | Annotation score: | ||
A0A6Q8PH04 | A0A6Q8PH04_HUMAN | Phosphoinositide phospholipase C | PLCE1 | 1,528 | Annotation score: | ||
A0A6Q8PHN3 | A0A6Q8PHN3_HUMAN | Phosphoinositide phospholipase C | PLCE1 | 1,370 | Annotation score: | ||
A0A7I2PPM5 | A0A7I2PPM5_HUMAN | Phosphoinositide phospholipase C | PLCE1 | 1,960 | Annotation score: | ||
A0A6Q8PFG0 | A0A6Q8PFG0_HUMAN | Phosphoinositide phospholipase C | PLCE1 | 1,090 | Annotation score: | ||
A0A6Q8PGT4 | A0A6Q8PGT4_HUMAN | 1-phosphatidylinositol 4,5-bisphosp... | PLCE1 | 1,275 | Annotation score: | ||
A0A6Q8PHP9 | A0A6Q8PHP9_HUMAN | 1-phosphatidylinositol 4,5-bisphosp... | PLCE1 | 809 | Annotation score: | ||
A0A8I5KQ92 | A0A8I5KQ92_HUMAN | 1-phosphatidylinositol 4,5-bisphosp... | PLCE1 | 1,137 | Annotation score: | ||
A0A8I5KV08 | A0A8I5KV08_HUMAN | 1-phosphatidylinositol 4,5-bisphosp... | PLCE1 | 1,620 | Annotation score: | ||
A0A8I5KVG7 | A0A8I5KVG7_HUMAN | 1-phosphatidylinositol 4,5-bisphosp... | PLCE1 | 2,231 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 502 | G → S in AAG28341 (PubMed:11022047).Curated | 1 | ||
Sequence conflicti | 703 | V → F in AAG28341 (PubMed:11022047).Curated | 1 | ||
Sequence conflicti | 1133 | E → K in AAG28341 (PubMed:11022047).Curated | 1 | ||
Sequence conflicti | 1229 – 1230 | SR → QA in AAF22005 (Ref. 8) Curated | 2 | ||
Sequence conflicti | 1456 | L → P in AAG17145 (PubMed:11022048).Curated | 1 | ||
Sequence conflicti | 1571 | N → D in BAB14090 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 1575 | R → Q in AAG28341 (PubMed:11022047).Curated | 1 | ||
Sequence conflicti | 1672 | C → R in AAG17145 (PubMed:11022048).Curated | 1 | ||
Sequence conflicti | 1705 | P → L in BAB14090 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 2125 | D → G in BAB14090 (PubMed:14702039).Curated | 1 | ||
Isoform 2 (identifier: Q9P212-2) | |||||
Sequence conflicti | 69 | L → P in AAG28341 (PubMed:11022047).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031843 | 469 | S → T. Corresponds to variant dbSNP:rs17508082EnsemblClinVar. | 1 | |
Natural variantiVAR_031844 | 548 | R → L. Corresponds to variant dbSNP:rs17417407EnsemblClinVar. | 1 | |
Natural variantiVAR_029883 | 1484 | S → L in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis. 1 PublicationCorresponds to variant dbSNP:rs121912605EnsemblClinVar. | 1 | |
Natural variantiVAR_031845 | 1575 | R → P. Corresponds to variant dbSNP:rs2274224EnsemblClinVar. | 1 | |
Natural variantiVAR_031846 | 1777 | T → I2 PublicationsCorresponds to variant dbSNP:rs3765524EnsemblClinVar. | 1 | |
Natural variantiVAR_031847 | 1927 | H → R4 PublicationsCorresponds to variant dbSNP:rs2274223EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021335 | 1 – 308 | Missing in isoform 2. 2 PublicationsAdd BLAST | 308 | |
Alternative sequenceiVSP_021336 | 309 – 402 | DVEED…AQWYP → MVSEGSAAGRDFAGMEEVRQ LHVRFCKGIKIWHQAWFLCS LLGREPQEREAGCQLWLCTL SAVLKVGWLFPLSEVPNFTL LKDGCGCWRLKEDQ in isoform 2. 2 PublicationsAdd BLAST | 94 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF190642 mRNA Translation: AAG17145.2 Frameshift. AF170071 mRNA Translation: AAG28341.1 AB040949 mRNA Translation: BAA96040.2 Different initiation. AL139118 Genomic DNA No translation available. AL139124 Genomic DNA No translation available. AL365510 Genomic DNA No translation available. AL389885 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW50042.1 CH471066 Genomic DNA Translation: EAW50043.1 BC140705 mRNA Translation: AAI40706.1 BC151854 mRNA Translation: AAI51855.1 AF117948 mRNA Translation: AAF22005.1 Frameshift. AK022543 mRNA Translation: BAB14090.1 Different initiation. AK289852 mRNA Translation: BAF82541.1 AY995135 mRNA Translation: AAY45890.1 |
CCDSi | CCDS41552.1 [Q9P212-1] CCDS53555.1 [Q9P212-2] |
RefSeqi | NP_001159451.1, NM_001165979.2 [Q9P212-2] NP_001275918.1, NM_001288989.1 NP_057425.3, NM_016341.3 [Q9P212-1] |
Genome annotation databases
Ensembli | ENST00000371375.2; ENSP00000360426.1; ENSG00000138193.17 [Q9P212-2] ENST00000371380.8; ENSP00000360431.2; ENSG00000138193.17 ENST00000675218.1; ENSP00000501910.1; ENSG00000138193.17 [Q9P212-2] |
GeneIDi | 51196 |
KEGGi | hsa:51196 |
MANE-Selecti | ENST00000371380.8; ENSP00000360431.2; NM_016341.4; NP_057425.3 |
UCSCi | uc001kjk.4, human [Q9P212-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF190642 mRNA Translation: AAG17145.2 Frameshift. AF170071 mRNA Translation: AAG28341.1 AB040949 mRNA Translation: BAA96040.2 Different initiation. AL139118 Genomic DNA No translation available. AL139124 Genomic DNA No translation available. AL365510 Genomic DNA No translation available. AL389885 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW50042.1 CH471066 Genomic DNA Translation: EAW50043.1 BC140705 mRNA Translation: AAI40706.1 BC151854 mRNA Translation: AAI51855.1 AF117948 mRNA Translation: AAF22005.1 Frameshift. AK022543 mRNA Translation: BAB14090.1 Different initiation. AK289852 mRNA Translation: BAF82541.1 AY995135 mRNA Translation: AAY45890.1 |
CCDSi | CCDS41552.1 [Q9P212-1] CCDS53555.1 [Q9P212-2] |
RefSeqi | NP_001159451.1, NM_001165979.2 [Q9P212-2] NP_001275918.1, NM_001288989.1 NP_057425.3, NM_016341.3 [Q9P212-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2BYE | NMR | - | A | 2006-2114 | [»] | |
2BYF | NMR | - | A | 2131-2246 | [»] | |
2C5L | X-ray | 1.90 | C/D | 2131-2246 | [»] | |
AlphaFoldDBi | Q9P212 | |||||
BMRBi | Q9P212 | |||||
SMRi | Q9P212 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119370, 15 interactors |
IntActi | Q9P212, 6 interactors |
STRINGi | 9606.ENSP00000360431 |
Chemistry databases
SwissLipidsi | SLP:000000663 |
PTM databases
GlyGeni | Q9P212, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9P212 |
PhosphoSitePlusi | Q9P212 |
Genetic variation databases
BioMutai | PLCE1 |
DMDMi | 118595723 |
Proteomic databases
EPDi | Q9P212 |
jPOSTi | Q9P212 |
MassIVEi | Q9P212 |
MaxQBi | Q9P212 |
PaxDbi | Q9P212 |
PeptideAtlasi | Q9P212 |
PRIDEi | Q9P212 |
ProteomicsDBi | 83705 [Q9P212-1] 83706 [Q9P212-2] |
Protocols and materials databases
Antibodypediai | 2889, 48 antibodies from 15 providers |
DNASUi | 51196 |
Genome annotation databases
Ensembli | ENST00000371375.2; ENSP00000360426.1; ENSG00000138193.17 [Q9P212-2] ENST00000371380.8; ENSP00000360431.2; ENSG00000138193.17 ENST00000675218.1; ENSP00000501910.1; ENSG00000138193.17 [Q9P212-2] |
GeneIDi | 51196 |
KEGGi | hsa:51196 |
MANE-Selecti | ENST00000371380.8; ENSP00000360431.2; NM_016341.4; NP_057425.3 |
UCSCi | uc001kjk.4, human [Q9P212-1] |
Organism-specific databases
CTDi | 51196 |
DisGeNETi | 51196 |
GeneCardsi | PLCE1 |
HGNCi | HGNC:17175, PLCE1 |
HPAi | ENSG00000138193, Low tissue specificity |
MalaCardsi | PLCE1 |
MIMi | 608414, gene 610725, phenotype |
neXtProti | NX_Q9P212 |
OpenTargetsi | ENSG00000138193 |
Orphaneti | 656, Genetic steroid-resistant nephrotic syndrome |
PharmGKBi | PA33391 |
VEuPathDBi | HostDB:ENSG00000138193 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0169, Eukaryota |
GeneTreei | ENSGT00940000157356 |
HOGENOMi | CLU_001158_0_0_1 |
InParanoidi | Q9P212 |
OMAi | DLYAVPC |
OrthoDBi | 368239at2759 |
PhylomeDBi | Q9P212 |
TreeFami | TF314432 |
Enzyme and pathway databases
BRENDAi | 3.1.4.11, 2681 |
PathwayCommonsi | Q9P212 |
Reactomei | R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol |
SignaLinki | Q9P212 |
SIGNORi | Q9P212 |
Miscellaneous databases
BioGRID-ORCSi | 51196, 18 hits in 1075 CRISPR screens |
ChiTaRSi | PLCE1, human |
EvolutionaryTracei | Q9P212 |
GeneWikii | PLCE1 |
GenomeRNAii | 51196 |
Pharosi | Q9P212, Tbio |
PROi | PR:Q9P212 |
RNActi | Q9P212, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000138193, Expressed in metanephric glomerulus and 228 other tissues |
Genevisiblei | Q9P212, HS |
Family and domain databases
Gene3Di | 1.10.840.10, 1 hit 2.60.40.150, 1 hit 3.20.20.190, 1 hit |
InterProi | View protein in InterPro IPR000008, C2_dom IPR035892, C2_domain_sf IPR011992, EF-hand-dom_pair IPR001192, PI-PLC_fam IPR028398, PLC-epsilon1 IPR017946, PLC-like_Pdiesterase_TIM-brl IPR015359, PLC_EF-hand-like IPR000909, PLipase_C_PInositol-sp_X_dom IPR001711, PLipase_C_Pinositol-sp_Y IPR000159, RA_dom IPR023578, Ras_GEF_dom_sf IPR001895, RASGEF_cat_dom IPR036964, RASGEF_cat_dom_sf IPR029071, Ubiquitin-like_domsf |
PANTHERi | PTHR10336, PTHR10336, 2 hits PTHR10336:SF6, PTHR10336:SF6, 2 hits |
Pfami | View protein in Pfam PF00168, C2, 1 hit PF09279, EF-hand_like, 1 hit PF00388, PI-PLC-X, 1 hit PF00387, PI-PLC-Y, 1 hit PF00788, RA, 1 hit PF00617, RasGEF, 1 hit |
PRINTSi | PR00390, PHPHLIPASEC |
SMARTi | View protein in SMART SM00239, C2, 1 hit SM00148, PLCXc, 1 hit SM00149, PLCYc, 1 hit SM00314, RA, 1 hit SM00147, RasGEF, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF48366, SSF48366, 1 hit SSF49562, SSF49562, 1 hit SSF51695, SSF51695, 1 hit SSF54236, SSF54236, 2 hits |
PROSITEi | View protein in PROSITE PS50004, C2, 1 hit PS50007, PIPLC_X_DOMAIN, 1 hit PS50008, PIPLC_Y_DOMAIN, 1 hit PS50200, RA, 1 hit PS50009, RASGEF_CAT, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PLCE1_HUMAN | |
Accessioni | Q9P212Primary (citable) accession number: Q9P212 Secondary accession number(s): A6NGW0 Q9UHV3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | October 31, 2006 | |
Last modified: | May 25, 2022 | |
This is version 184 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references