UniProtKB - Q9P212 (PLCE1_HUMAN)

>sp|Q9P212|PLCE1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 OS=Homo sapiens OX=9606 GN=PLCE1 PE=1 SV=3
MTSEEMTASVLIPVTQRKVVSAQSAADESSEKVSDINISKAHTVRRSGETSHTISQLNKL
KEEPSGSNLPKILSIAREKIVSDENSNEKCWEKIMPDSAKNLNINCNNILRNHQHGLPQR
QFYEMYNSVAEEDLCLETGIPSPLERKVFPGIQLELDRPSMGISPLGNQSVIIETGRAHP
DSRRAVFHFHYEVDRRMSDTFCTLSENLILDDCGNCVPLPGGEEKQKKNYVAYTCKLMEL
AKNCDNKNEQLQCDHCDTLNDKYFCFEGSCEKVDMVYSGDSFCRKDFTDSQAAKTFLSHF
EDFPDNCDDVEEDAFKSKKERSTLLVRRFCKNDREVKKSVYTGTRAIVRTLPSGHIGLTA
WSYIDQKRNGPLLPCGRVMEPPSTVEIRQDGSQRLSEAQWYPIYNAVRREETENTVGSLL
HFLTKLPASETAHGRISVGPCLKQCVRDTVCEYRATLQRTSISQYITGSLLEATTSLGAR
SGLLSTFGGSTGRMMLKERQPGPSVANSNALPSSSAGISKELIDLQPLIQFPEEVASILM
EQEQTIYRRVLPVDYLCFLTRDLGTPECQSSLPCLKASISASILTTQNGEHNALEDLVMR
FNEVSSWVTWLILTAGSMEEKREVFSYLVHVAKCCWNMGNYNAVMEFLAGLRSRKVLKMW
QFMDQSDIETMRSLKDAMAQHESSCEYRKVVTRALHIPGCKVVPFCGVFLKELCEVLDGA
SGLMKLCPRYNSQEETLEFVADYSGQDNFLQRVGQNGLKNSEKESTVNSIFQVIRSCNRS
LETDEEDSPSEGNSSRKSSLKDKSRWQFIIGDLLDSDNDIFEQSKEYDSHGSEDSQKAFD
HGTELIPWYVLSIQADVHQFLLQGATVIHYDQDTHLSARCFLQLQPDNSTLTWVKPTTAS
PASSKAKLGVLNNTAEPGKFPLLGNAGLSSLTEGVLDLFAVKAVYMGHPGIDIHTVCVQN
KLGSMFLSETGVTLLYGLQTTDNRLLHFVAPKHTAKMLFSGLLELTRAVRKMRKFPDQRQ
QWLRKQYVSLYQEDGRYEGPTLAHAVELFGGRRWSARNPSPGTSAKNAEKPNMQRNNTLG
ISTTKKKKKILMRGESGEVTDDEMATRKAKMHKECRSRSGSDPQDINEQEESEVNAIANP
PNPLPSRRAHSLTTAGSPNLAAGTSSPIRPVSSPVLSSSNKSPSSAWSSSSWHGRIKGGM
KGFQSFMVSDSNMSFVEFVELFKSFSVRSRKDLKDLFDVYAVPCNRSGSESAPLYTNLTI
DENTSDLQPDLDLLTRNVSDLGLFIKSKQQLSDNQRQISDAIAAASIVTNGTGIESTSLG
IFGVGILQLNDFLVNCQGEHCTYDEILSIIQKFEPSISMCHQGLMSFEGFARFLMDKENF
ASKNDESQENIKELQLPLSYYYIESSHNTYLTGHQLKGESSVELYSQVLLQGCRSVELDC
WDGDDGMPIIYHGHTLTTKIPFKEVVEAIDRSAFINSDLPIIISIENHCSLPQQRKMAEI
FKTVFGEKLVTKFLFETDFSDDPMLPSPDQLRKKVLLKNKKLKAHQTPVDILKQKAHQLA
SMQVQAYNGGNANPRPANNEEEEDEEDEYDYDYESLSDDNILEDRPENKSCNDKLQFEYN
EEIPKRIKKADNSACNKGKVYDMELGEEFYLDQNKKESRQIAPELSDLVIYCQAVKFPGL
STLNASGSSRGKERKSRKSIFGNNPGRMSPGETASFNKTSGKSSCEGIRQTWEESSSPLN
PTTSLSAIIRTPKCYHISSLNENAAKRLCRRYSQKLTQHTACQLLRTYPAATRIDSSNPN
PLMFWLHGIQLVALNYQTDDLPLHLNAAMFEANGGCGYVLKPPVLWDKNCPMYQKFSPLE
RDLDSMDPAVYSLTIVSGQNVCPSNSMGSPCIEVDVLGMPLDSCHFRTKPIHRNTLNPMW
NEQFLFHVHFEDLVFLRFAVVENNSSAVTAQRIIPLKALKRGYRHLQLRNLHNEVLEISS
LFINSRRMEENSSGNTMSASSMFNTEERKCLQTHRVTVHGVPGPEPFTVFTINGGTKAKQ
LLQQILTNEQDIKPVTTDYFLMEEKYFISKEKNECRKQPFQRAIGPEEEIMQILSSWFPE
EGYMGRIVLKTQQENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVST
AQDVIQQTLCKAKYSYSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQ
AQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKKLTKSTKQPRGLTSPSQLLTSES
IQTKEEKPVGGLSSSDTMDYRQ

Entry version 180 (07 Apr 2021)
Sequence version 3 (31 Oct 2006)
Previous versions | rss

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Protein

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1

Gene

PLCE1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

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 Publications

Catalytic activityⁱ

a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate)
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
H₂O
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
=
1D-myo-inositol 1,4,5-trisphosphate
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
a 1,2-diacyl-sn-glycerol
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
H⁺
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
2 Publications
Manual assertion based on experiment inⁱ
- Ref.1
  "Regulation of a novel human phospholipase C, PLCepsilon, through membrane targeting by Ras."
  Song C., Hu C.-D., Masago M., Kariya K., Yamawaki-Kataoka Y., Shibatohge M., Wu D., Satoh T., Kataoka T.
  J. Biol. Chem. 276:2752-2757(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CATALYTIC ACTIVITY, COFACTOR, INTERACTION WITH HRAS AND RAP1A, SUBCELLULAR LOCATION, ACTIVITY REGULATION, VARIANTS ILE-1777 AND ARG-1927.
- Ref.2
  "A novel bifunctional phospholipase C that is regulated by Galpha 12 and stimulates the Ras/mitogen-activated protein kinase pathway."
  Lopez I., Mak E.C., Ding J., Hamm H.E., Lomasney J.W.
  J. Biol. Chem. 276:2758-2765(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY, ACTIVITY REGULATION, MUTAGENESIS OF HIS-1452.
EC:
3.1.4.11
- Search proteins in UniProtKB for this EC number.
- See the description of this EC number in ENZYME.
2 Publications
Manual assertion based on experiment inⁱ
- Ref.1
  "Regulation of a novel human phospholipase C, PLCepsilon, through membrane targeting by Ras."
  Song C., Hu C.-D., Masago M., Kariya K., Yamawaki-Kataoka Y., Shibatohge M., Wu D., Satoh T., Kataoka T.
  J. Biol. Chem. 276:2752-2757(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CATALYTIC ACTIVITY, COFACTOR, INTERACTION WITH HRAS AND RAP1A, SUBCELLULAR LOCATION, ACTIVITY REGULATION, VARIANTS ILE-1777 AND ARG-1927.
- Ref.2
  "A novel bifunctional phospholipase C that is regulated by Galpha 12 and stimulates the Ras/mitogen-activated protein kinase pathway."
  Lopez I., Mak E.C., Ding J., Hamm H.E., Lomasney J.W.
  J. Biol. Chem. 276:2758-2765(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY, ACTIVITY REGULATION, MUTAGENESIS OF HIS-1452.
Source:
Rhea
Search for this reaction in UniProtKB.
See the description of this reaction in Rhea.
. Show »« Hide
a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate)
zoom
+
H₂O
=
1D-myo-inositol 1,4,5-trisphosphate
zoom
+
a 1,2-diacyl-sn-glycerol
zoom
+
H⁺

Cofactorⁱ

Ca²⁺1 Publication

Activity regulationⁱ

Activated by the heterotrimeric G-protein subunits GNA12, GNA13 and GNB1-GNG2. Activated by HRAS, RAP1A, RHOA, RHOB, RHOC, RRAS and RRAS2. Activated by the G(s)-coupled GPCRs ADRB2, PTGER1 and CHRM3 through cyclic-AMP formation and RAP2B activation. Inhibited by G(i)-coupled GPCRs.6 Publications

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

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Guanine-nucleotide releasing factor, Hydrolase, Transducer
Biological process	Lipid degradation, Lipid metabolism
Ligand	Calcium, Metal-binding

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS06473-MONOMER
BRENDAⁱ	3.1.4.11, 2681
PathwayCommonsⁱ	Q9P212
Reactomeⁱ	R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol
SIGNORⁱ	Q9P212

Chemistry databases

SwissLipidsⁱ	SLP:000000663

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	Name:PLCE1Imported Synonyms:KIAA1516, PLCE, PPLC
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:17175, PLCE1
MIMⁱ	608414, gene
neXtProtⁱ	NX_Q9P212
VEuPathDBⁱ	HostDB:ENSG00000138193.14

Keywords - Cellular componentⁱ

Cell membrane, Cell projection, Cytoplasm, Golgi apparatus, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Nephrotic syndrome 3 (NPHS3)1 Publication

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen.

Related information in OMIM

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	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 variant

Organism-specific databases

DisGeNET More...DisGeNETⁱ	51196
MalaCards human disease database More...MalaCardsⁱ	PLCE1
MIMⁱ	610725, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000138193
Orphanetⁱ	656, Genetic steroid-resistant nephrotic syndrome
PharmGKBⁱ	PA33391

Miscellaneous databases

Pharosⁱ	Q9P212, Tbio

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

Phosphoprotein

Proteomic databases

EPDⁱ	Q9P212
jPOSTⁱ	Q9P212
MassIVEⁱ	Q9P212
PaxDbⁱ	Q9P212
PeptideAtlas More...PeptideAtlasⁱ	Q9P212
PRIDEⁱ	Q9P212
ProteomicsDBⁱ	83705 [Q9P212-1] 83706 [Q9P212-2]

PTM databases

iPTMnetⁱ	Q9P212
PhosphoSitePlusⁱ	Q9P212

Expressionⁱ

Tissue specificityⁱ

Widely expressed. Expressed in podocytes (PubMed:29058690).2 Publications

Isoform 1:

Broadly expressed and only absent in peripheral blood leukocytes.2 Publications

Isoform 2:

Specifically expressed in placenta, lung and spleen.2 Publications

Inductionⁱ

Overexpressed during heart failure.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000138193, Expressed in metanephric glomerulus and 227 other tissues
Genevisibleⁱ	Q9P212, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000138193, Tissue enhanced (retina)

HPAⁱ

ENSG00000138193, Tissue enhanced (retina)

Interactionⁱ

Subunit structureⁱ

Interacts with RHOA (By similarity).

Interacts with GTP-bound HRAS, RAP1A, RAP2A, RAP2B and RRAS (PubMed:11022048, PubMed:12444546, PubMed:16483931, PubMed:16537651).

Interacts with AVIL (PubMed:29058690).

Interacts with IQGAP1 (PubMed:17086182).

By similarity6 Publications

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	119370, 13 interactors
IntActⁱ	Q9P212, 4 interactors
STRINGⁱ	9606.ENSP00000360431

Miscellaneous databases

RNActⁱ	Q9P212, protein

RNActⁱ

Q9P212, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	2015 – 2020	Combined sources	6
Beta strandⁱ	2022 – 2031	Combined sources	10
Helixⁱ	2038 – 2046	Combined sources	9
Beta strandⁱ	2049 – 2052	Combined sources	4
Beta strandⁱ	2058 – 2064	Combined sources	7
Beta strandⁱ	2069 – 2072	Combined sources	4
Beta strandⁱ	2081 – 2084	Combined sources	4
Beta strandⁱ	2086 – 2088	Combined sources	3
Helixⁱ	2090 – 2096	Combined sources	7
Turnⁱ	2099 – 2103	Combined sources	5
Beta strandⁱ	2107 – 2112	Combined sources	6
Beta strandⁱ	2136 – 2143	Combined sources	8
Beta strandⁱ	2150 – 2156	Combined sources	7
Helixⁱ	2161 – 2171	Combined sources	11
Turnⁱ	2172 – 2174	Combined sources	3
Helixⁱ	2176 – 2180	Combined sources	5
Helixⁱ	2184 – 2186	Combined sources	3
Beta strandⁱ	2187 – 2194	Combined sources	8
Beta strandⁱ	2198 – 2204	Combined sources	7
Beta strandⁱ	2207 – 2211	Combined sources	5
Helixⁱ	2218 – 2223	Combined sources	6
Beta strandⁱ	2229 – 2235	Combined sources	7
Turnⁱ	2236 – 2238	Combined sources	3

Show more details

3D structure databases

BMRBⁱ	Q9P212
SMRⁱ	Q9P212
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9P212

EvolutionaryTraceⁱ

Q9P212

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	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	1686 – 1764	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gammaBy similarityAdd BLAST		79

Domainⁱ

The Ras-associating domain 1 is degenerated and may not bind HRAS. The Ras-associating domain 2 mediates interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane.

The Ras-GEF domain has a GEF activity towards HRAS and RAP1A. Mediates activation of the mitogen-activated protein kinase pathway.

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG0169, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000157356
HOGENOMⁱ	CLU_001158_0_0_1
InParanoidⁱ	Q9P212
OMAⁱ	NTTLTWG
Database of Orthologous Groups More...OrthoDBⁱ	368239at2759
PhylomeDBⁱ	Q9P212
TreeFamⁱ	TF314432

Family and domain databases

Gene3Dⁱ	2.60.40.150, 1 hit 3.20.20.190, 2 hits
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 IPR029071, Ubiquitin-like_domsf
PANTHERⁱ	PTHR10336, PTHR10336, 2 hits PTHR10336:SF6, PTHR10336:SF6, 2 hits
Pfam protein domain database More...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 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

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q9P212-1) [UniParc]FASTA Add to basket

Also known as: PLCepsilon1a

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        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

Length:2,302

Mass (Da):258,715

Last modified:October 31, 2006 - v3

Checksum:ⁱ71DDE446277077A3

Isoform 2 (identifier: Q9P212-2) [UniParc]FASTA Add to basket

Also known as: PLCepsilon1b

The sequence of this isoform differs from the canonical sequence as follows:
1-308: Missing.
309-402: DVEEDAFKSK...QRLSEAQWYP → MVSEGSAAGR...CGCWRLKEDQ

« Hide

        10         20         30         40         50
MVSEGSAAGR DFAGMEEVRQ LHVRFCKGIK IWHQAWFLCS LLGREPQERE 
        60         70         80         90        100
AGCQLWLCTL SAVLKVGWLF PLSEVPNFTL LKDGCGCWRL KEDQIYNAVR 
       110        120        130        140        150
REETENTVGS LLHFLTKLPA SETAHGRISV GPCLKQCVRD TVCEYRATLQ 
       160        170        180        190        200
RTSISQYITG SLLEATTSLG ARSGLLSTFG GSTGRMMLKE RQPGPSVANS 
       210        220        230        240        250
NALPSSSAGI SKELIDLQPL IQFPEEVASI LMEQEQTIYR RVLPVDYLCF 
       260        270        280        290        300
LTRDLGTPEC QSSLPCLKAS ISASILTTQN GEHNALEDLV MRFNEVSSWV 
       310        320        330        340        350
TWLILTAGSM EEKREVFSYL VHVAKCCWNM GNYNAVMEFL AGLRSRKVLK 
       360        370        380        390        400
MWQFMDQSDI ETMRSLKDAM AQHESSCEYR KVVTRALHIP GCKVVPFCGV 
       410        420        430        440        450
FLKELCEVLD GASGLMKLCP RYNSQEETLE FVADYSGQDN FLQRVGQNGL 
       460        470        480        490        500
KNSEKESTVN SIFQVIRSCN RSLETDEEDS PSEGNSSRKS SLKDKSRWQF 
       510        520        530        540        550
IIGDLLDSDN DIFEQSKEYD SHGSEDSQKA FDHGTELIPW YVLSIQADVH 
       560        570        580        590        600
QFLLQGATVI HYDQDTHLSA RCFLQLQPDN STLTWVKPTT ASPASSKAKL 
       610        620        630        640        650
GVLNNTAEPG KFPLLGNAGL SSLTEGVLDL FAVKAVYMGH PGIDIHTVCV 
       660        670        680        690        700
QNKLGSMFLS ETGVTLLYGL QTTDNRLLHF VAPKHTAKML FSGLLELTRA 
       710        720        730        740        750
VRKMRKFPDQ RQQWLRKQYV SLYQEDGRYE GPTLAHAVEL FGGRRWSARN 
       760        770        780        790        800
PSPGTSAKNA EKPNMQRNNT LGISTTKKKK KILMRGESGE VTDDEMATRK 
       810        820        830        840        850
AKMHKECRSR SGSDPQDINE QEESEVNAIA NPPNPLPSRR AHSLTTAGSP 
       860        870        880        890        900
NLAAGTSSPI RPVSSPVLSS SNKSPSSAWS SSSWHGRIKG GMKGFQSFMV 
       910        920        930        940        950
SDSNMSFVEF VELFKSFSVR SRKDLKDLFD VYAVPCNRSG SESAPLYTNL 
       960        970        980        990       1000
TIDENTSDLQ PDLDLLTRNV SDLGLFIKSK QQLSDNQRQI SDAIAAASIV 
      1010       1020       1030       1040       1050
TNGTGIESTS LGIFGVGILQ LNDFLVNCQG EHCTYDEILS IIQKFEPSIS 
      1060       1070       1080       1090       1100
MCHQGLMSFE GFARFLMDKE NFASKNDESQ ENIKELQLPL SYYYIESSHN 
      1110       1120       1130       1140       1150
TYLTGHQLKG ESSVELYSQV LLQGCRSVEL DCWDGDDGMP IIYHGHTLTT 
      1160       1170       1180       1190       1200
KIPFKEVVEA IDRSAFINSD LPIIISIENH CSLPQQRKMA EIFKTVFGEK 
      1210       1220       1230       1240       1250
LVTKFLFETD FSDDPMLPSP DQLRKKVLLK NKKLKAHQTP VDILKQKAHQ 
      1260       1270       1280       1290       1300
LASMQVQAYN GGNANPRPAN NEEEEDEEDE YDYDYESLSD DNILEDRPEN 
      1310       1320       1330       1340       1350
KSCNDKLQFE YNEEIPKRIK KADNSACNKG KVYDMELGEE FYLDQNKKES 
      1360       1370       1380       1390       1400
RQIAPELSDL VIYCQAVKFP GLSTLNASGS SRGKERKSRK SIFGNNPGRM 
      1410       1420       1430       1440       1450
SPGETASFNK TSGKSSCEGI RQTWEESSSP LNPTTSLSAI IRTPKCYHIS 
      1460       1470       1480       1490       1500
SLNENAAKRL CRRYSQKLTQ HTACQLLRTY PAATRIDSSN PNPLMFWLHG 
      1510       1520       1530       1540       1550
IQLVALNYQT DDLPLHLNAA MFEANGGCGY VLKPPVLWDK NCPMYQKFSP 
      1560       1570       1580       1590       1600
LERDLDSMDP AVYSLTIVSG QNVCPSNSMG SPCIEVDVLG MPLDSCHFRT 
      1610       1620       1630       1640       1650
KPIHRNTLNP MWNEQFLFHV HFEDLVFLRF AVVENNSSAV TAQRIIPLKA 
      1660       1670       1680       1690       1700
LKRGYRHLQL RNLHNEVLEI SSLFINSRRM EENSSGNTMS ASSMFNTEER 
      1710       1720       1730       1740       1750
KCLQTHRVTV HGVPGPEPFT VFTINGGTKA KQLLQQILTN EQDIKPVTTD 
      1760       1770       1780       1790       1800
YFLMEEKYFI SKEKNECRKQ PFQRAIGPEE EIMQILSSWF PEEGYMGRIV 
      1810       1820       1830       1840       1850
LKTQQENLEE KNIVQDDKEV ILSSEEESFF VQVHDVSPEQ PRTVIKAPRV 
      1860       1870       1880       1890       1900
STAQDVIQQT LCKAKYSYSI LSNPNPSDYV LLEEVVKDTT NKKTTTPKSS 
      1910       1920       1930       1940       1950
QRVLLDQECV FQAQSKWKGA GKFILKLKEQ VQASREDKKK GISFASELKK 
      1960       1970       1980       1990 
LTKSTKQPRG LTSPSQLLTS ESIQTKEEKP VGGLSSSDTM DYRQ

Show »

Length:1,994

Mass (Da):223,872

Checksum:ⁱ069358CFA0D7A1CD

Computationally mapped potential isoform sequencesⁱ

There are 6 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A6Q8PFG0	A0A6Q8PFG0_HUMAN	Phosphoinositide phospholipase C Phosphoinositide phospholipase C, EC 3.1.4.11	PLCE1	1,090	Annotation score:
A0A6Q8PH04	A0A6Q8PH04_HUMAN	Phosphoinositide phospholipase C Phosphoinositide phospholipase C, EC 3.1.4.11	PLCE1	1,528	Annotation score:
A0A6Q8PHN3	A0A6Q8PHN3_HUMAN	Phosphoinositide phospholipase C Phosphoinositide phospholipase C, EC 3.1.4.11	PLCE1	1,370	Annotation score:
A0A6Q8PGT4	A0A6Q8PGT4_HUMAN	1-phosphatidylinositol 4,5-bisphosp... 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	PLCE1	1,275	Annotation score:
A0A6Q8PHP9	A0A6Q8PHP9_HUMAN	1-phosphatidylinositol 4,5-bisphosp... 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	PLCE1	809	Annotation score:
A0A7I2PPM5	A0A7I2PPM5_HUMAN	1-phosphatidylinositol 4,5-bisphosp... 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	PLCE1	1,960	Annotation score:

Sequence cautionⁱ

The sequence AAF22005 differs from that shown. Reason: Frameshift.Curated

The sequence AAG17145 differs from that shown. Reason: Frameshift.Curated

The sequence BAA96040 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

The sequence BAB14090 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	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	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS41552.1 [Q9P212-1] CCDS53555.1 [Q9P212-2]
NCBI Reference Sequences More...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; ENSP00000360426; ENSG00000138193 [Q9P212-2] ENST00000371380; ENSP00000360431; ENSG00000138193 [Q9P212-1] ENST00000675218; ENSP00000501910; ENSG00000138193 [Q9P212-2]
GeneIDⁱ	51196
KEGGⁱ	hsa:51196
UCSC genome browser More...UCSCⁱ	uc001kjk.4, human [Q9P212-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9P212	Phosphoinositide phospholipase C		OTOGA		2310	UniRef90_Q9P212
Phosphoinositide phospholipase C		NOMLE		2303
Phosphoinositide phospholipase C		GORGO		2300
Phosphoinositide phospholipase C		MACNE		2295
Phosphoinositide phospholipase C		HUMAN		2286
+18
Q9P212-2	Phosphoinositide phospholipase C		CERAT		2317	UniRef90_Q9P212-2
Phosphoinositide phospholipase C		PAPAN		2009
Phosphoinositide phospholipase C		MANLE		1995
Phosphoinositide phospholipase C		MACFA		1995
Phosphoinositide phospholipase C		RHIRO		1995
+27

Protein	Similar proteins		Species	Score	Length	Source
Q9P212	Phosphoinositide phospholipase C		OTOGA		2310	UniRef50_Q9P212
Phosphoinositide phospholipase C		NOMLE		2303
Phosphoinositide phospholipase C		GORGO		2300
Phosphoinositide phospholipase C		MACNE		2295
Phosphoinositide phospholipase C		HUMAN		2286
+634

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: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
BMRBⁱ	Q9P212
SMRⁱ	Q9P212
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	119370, 13 interactors
IntActⁱ	Q9P212, 4 interactors
STRINGⁱ	9606.ENSP00000360431

Chemistry databases

SwissLipidsⁱ	SLP:000000663

SwissLipidsⁱ

SLP:000000663

PTM databases

iPTMnetⁱ	Q9P212
PhosphoSitePlusⁱ	Q9P212

Genetic variation databases

BioMutaⁱ	PLCE1
DMDMⁱ	118595723

Proteomic databases

EPDⁱ	Q9P212
jPOSTⁱ	Q9P212
MassIVEⁱ	Q9P212
PaxDbⁱ	Q9P212
PeptideAtlasⁱ	Q9P212
PRIDEⁱ	Q9P212
ProteomicsDBⁱ	83705 [Q9P212-1] 83706 [Q9P212-2]

Protocols and materials databases

Antibodypediaⁱ	2889, 47 antibodies

Antibodypediaⁱ

2889, 47 antibodies

Genome annotation databases

Ensemblⁱ	ENST00000371375; ENSP00000360426; ENSG00000138193 [Q9P212-2] ENST00000371380; ENSP00000360431; ENSG00000138193 [Q9P212-1] ENST00000675218; ENSP00000501910; ENSG00000138193 [Q9P212-2]
GeneIDⁱ	51196
KEGGⁱ	hsa:51196
UCSCⁱ	uc001kjk.4, human [Q9P212-1]

Organism-specific databases

CTDⁱ	51196
DisGeNETⁱ	51196
GeneCardsⁱ	PLCE1
HGNCⁱ	HGNC:17175, PLCE1
HPAⁱ	ENSG00000138193, Tissue enhanced (retina)
MalaCardsⁱ	PLCE1
MIMⁱ	608414, gene 610725, phenotype
neXtProtⁱ	NX_Q9P212
OpenTargetsⁱ	ENSG00000138193
Orphanetⁱ	656, Genetic steroid-resistant nephrotic syndrome
PharmGKBⁱ	PA33391
VEuPathDBⁱ	HostDB:ENSG00000138193.14
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0169, Eukaryota
GeneTreeⁱ	ENSGT00940000157356
HOGENOMⁱ	CLU_001158_0_0_1
InParanoidⁱ	Q9P212
OMAⁱ	NTTLTWG
OrthoDBⁱ	368239at2759
PhylomeDBⁱ	Q9P212
TreeFamⁱ	TF314432

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS06473-MONOMER
BRENDAⁱ	3.1.4.11, 2681
PathwayCommonsⁱ	Q9P212
Reactomeⁱ	R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol
SIGNORⁱ	Q9P212

Miscellaneous databases

BioGRID-ORCSⁱ	51196, 8 hits in 988 CRISPR screens
ChiTaRSⁱ	PLCE1, human
EvolutionaryTraceⁱ	Q9P212
GeneWikiⁱ	PLCE1
GenomeRNAiⁱ	51196
Pharosⁱ	Q9P212, Tbio
Protein Ontology More...PROⁱ	PR:Q9P212
RNActⁱ	Q9P212, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000138193, Expressed in metanephric glomerulus and 227 other tissues
Genevisibleⁱ	Q9P212, HS

Family and domain databases

Gene3Dⁱ	2.60.40.150, 1 hit 3.20.20.190, 2 hits
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 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 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
ProtoNetⁱ	Search...
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:	April 7, 2021
	This is version 180 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 proteome

Documents

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

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UniProtKB - Q9P212 (PLCE1_HUMAN)

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1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1

PLCE1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Chemistry databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytoplasm and Cytosol

Golgi apparatus

Plasma membrane

Other locations

Cytosol

Golgi apparatus

Plasma Membrane

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

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Functionⁱ

Catalytic activityⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ