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Protein

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

Gene

PLCE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.7 Publications

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.2 Publications

Cofactori

Ca2+1 Publication

Enzyme 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 keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei1407PROSITE-ProRule annotation1
Active sitei1452PROSITE-ProRule annotation1

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
  • Ras GTPase binding Source: UniProtKB
  • signal transducer activity, downstream of receptor Source: UniProtKB

GO - Biological processi

  • activation of MAPK activity Source: UniProtKB
  • calcium-mediated signaling Source: UniProtKB
  • cell proliferation Source: UniProtKB
  • cytoskeleton organization Source: UniProtKB
  • diacylglycerol biosynthetic process Source: UniProtKB
  • epidermal growth factor receptor signaling pathway Source: UniProtKB
  • glomerulus development Source: HGNC
  • heart development Source: UniProtKB
  • inositol phosphate-mediated signaling Source: UniProtKB
  • inositol phosphate metabolic process Source: Reactome
  • lipid catabolic process Source: UniProtKB-KW
  • phospholipase C-activating G-protein coupled receptor signaling pathway Source: UniProtKB
  • phospholipid metabolic process Source: UniProtKB
  • positive regulation of cytosolic calcium ion concentration Source: UniProtKB
  • protein kinase C-activating G-protein coupled receptor signaling pathway Source: UniProtKB
  • Ras protein signal transduction Source: UniProtKB
  • regulation of cell growth Source: UniProtKB
  • regulation of G-protein coupled receptor protein 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
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor, Hydrolase, Transducer

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06473-MONOMER.
ZFISH:HS06473-MONOMER.
BRENDAi3.1.4.11. 2681.
ReactomeiR-HSA-1855204. Synthesis of IP3 and IP4 in the cytosol.
SIGNORiQ9P212.

Chemistry databases

SwissLipidsiSLP:000000663.

Names & Taxonomyi

Protein namesi
Recommended name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 (EC:3.1.4.11)
Alternative name(s):
Pancreas-enriched phospholipase C
Phosphoinositide phospholipase C-epsilon-1
Phospholipase C-epsilon-1
Short name:
PLC-epsilon-1
Gene namesi
Name:PLCE1
Synonyms:KIAA1516, PLCE, PPLC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:17175. PLCE1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 3 (NPHS3)1 Publication
The disease is caused by mutations 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.
See also OMIM:610725
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0298831484S → L in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis. 1 PublicationCorresponds to variant rs121912605dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1452H → L: Loss of the phospholipase C enzymatic activity. Still activates HRAS and the MAP kinase pathway. 1 Publication1
Mutagenesisi2140Q → E: Increases 2.8-fold the affinity for HRAS. 1 Publication1
Mutagenesisi2148Q → E: Decreases 17.5-fold the affinity for HRAS. 1 Publication1
Mutagenesisi2148Q → K: Increases 1.4-fold the affinity for HRAS. 1 Publication1
Mutagenesisi2150R → L: Abolishes interaction with HRAS. 1 Publication1
Mutagenesisi2171K → L: No effect on HRAS-binding. 1 Publication1
Mutagenesisi2174Y → L: Reduces HRAS-binding. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51196.
MalaCardsiPLCE1.
MIMi610725. phenotype.
OpenTargetsiENSG00000138193.
Orphaneti93217. Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA33391.

Polymorphism and mutation databases

BioMutaiPLCE1.
DMDMi118595723.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002562381 – 23021-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1Add BLAST2302

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1096PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9P212.
PeptideAtlasiQ9P212.
PRIDEiQ9P212.

PTM databases

iPTMnetiQ9P212.
PhosphoSitePlusiQ9P212.

Expressioni

Tissue specificityi

Widely expressed. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen.3 Publications

Inductioni

Overexpressed during heart failure.1 Publication

Gene expression databases

BgeeiENSG00000138193.
GenevisibleiQ9P212. HS.

Organism-specific databases

HPAiHPA015597.
HPA015598.

Interactioni

Subunit structurei

Interacts with RHOA (By similarity). Interacts with IQGAP1, HRAS, RAP1A, RAP2A, RAP2B and RRAS.By similarity5 Publications

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • Ras GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119370. 5 interactors.
IntActiQ9P212. 3 interactors.
MINTiMINT-1420367.
STRINGi9606.ENSP00000260766.

Structurei

Secondary structure

12302
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2015 – 2020Combined sources6
Beta strandi2022 – 2031Combined sources10
Helixi2038 – 2046Combined sources9
Beta strandi2049 – 2052Combined sources4
Beta strandi2058 – 2064Combined sources7
Beta strandi2069 – 2072Combined sources4
Beta strandi2081 – 2084Combined sources4
Beta strandi2086 – 2088Combined sources3
Helixi2090 – 2096Combined sources7
Turni2099 – 2103Combined sources5
Beta strandi2107 – 2112Combined sources6
Beta strandi2136 – 2143Combined sources8
Beta strandi2150 – 2156Combined sources7
Helixi2161 – 2171Combined sources11
Turni2172 – 2174Combined sources3
Helixi2176 – 2180Combined sources5
Helixi2184 – 2186Combined sources3
Beta strandi2187 – 2194Combined sources8
Beta strandi2198 – 2204Combined sources7
Beta strandi2207 – 2211Combined sources5
Helixi2218 – 2223Combined sources6
Beta strandi2229 – 2235Combined sources7
Turni2236 – 2238Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2BYENMR-A2006-2114[»]
2BYFNMR-A2131-2246[»]
2C5LX-ray1.90C/D2131-2246[»]
ProteinModelPortaliQ9P212.
SMRiQ9P212.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P212.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini531 – 790Ras-GEFPROSITE-ProRule annotationAdd BLAST260
Domaini1392 – 1540PI-PLC X-boxPROSITE-ProRule annotationAdd BLAST149
Domaini1730 – 1846PI-PLC Y-boxPROSITE-ProRule annotationAdd BLAST117
Domaini1856 – 1956C2PROSITE-ProRule annotationAdd BLAST101
Domaini2012 – 2114Ras-associating 1PROSITE-ProRule annotationAdd BLAST103
Domaini2135 – 2238Ras-associating 2PROSITE-ProRule annotationAdd BLAST104

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1686 – 1764Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gammaBy similarityAdd BLAST79

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.

Sequence similaritiesi

Contains 1 C2 domain.PROSITE-ProRule annotation
Contains 1 PI-PLC X-box domain.PROSITE-ProRule annotation
Contains 1 PI-PLC Y-box domain.PROSITE-ProRule annotation
Contains 2 Ras-associating domains.PROSITE-ProRule annotation
Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0169. Eukaryota.
ENOG410XPSW. LUCA.
GeneTreeiENSGT00730000110782.
HOVERGENiHBG059220.
InParanoidiQ9P212.
KOiK05860.
OMAiQHTACQL.
OrthoDBiEOG091G03PC.
PhylomeDBiQ9P212.
TreeFamiTF314432.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.10.840.10. 2 hits.
2.30.29.30. 1 hit.
2.60.40.150. 1 hit.
3.20.20.190. 3 hits.
InterProiIPR000008. C2_dom.
IPR011992. EF-hand-dom_pair.
IPR011993. PH_dom-like.
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.
IPR001895. RASGEF_cat_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PANTHERiPTHR10336. PTHR10336. 3 hits.
PTHR10336:SF6. PTHR10336:SF6. 3 hits.
PfamiPF00168. 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.
[Graphical view]
PRINTSiPR00390. PHPHLIPASEC.
SMARTiSM00239. C2. 1 hit.
SM00148. PLCXc. 1 hit.
SM00149. PLCYc. 1 hit.
SM00314. RA. 1 hit.
SM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
SSF48366. SSF48366. 3 hits.
SSF49562. SSF49562. 1 hit.
SSF51695. SSF51695. 3 hits.
SSF54236. SSF54236. 2 hits.
PROSITEiPS50004. C2. 1 hit.
PS50007. PIPLC_X_DOMAIN. 1 hit.
PS50008. PIPLC_Y_DOMAIN. 1 hit.
PS50200. RA. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9P212-1) [UniParc]FASTAAdd to basket
Also known as: PLCepsilon1a

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

« Hide

        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
GO
Isoform 2 (identifier: Q9P212-2) [UniParc]FASTAAdd 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

Show »
Length:1,994
Mass (Da):223,872
Checksum:i069358CFA0D7A1CD
GO

Sequence cautioni

The sequence AAF22005 differs from that shown. Reason: Frameshift at position 1131.Curated
The sequence AAG17145 differs from that shown. Reason: Frameshift at position 2296.Curated
The sequence BAA96040 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14090 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH70739 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73288 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73757 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI16674 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti502G → S in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti703V → F in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti1133E → K in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti1229 – 1230SR → QA in AAF22005 (Ref. 8) Curated2
Sequence conflicti1456L → P in AAG17145 (PubMed:11022048).Curated1
Sequence conflicti1571N → D in BAB14090 (PubMed:14702039).Curated1
Sequence conflicti1575R → Q in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti1672C → R in AAG17145 (PubMed:11022048).Curated1
Sequence conflicti1705P → L in BAB14090 (PubMed:14702039).Curated1
Sequence conflicti2125D → G in BAB14090 (PubMed:14702039).Curated1
Isoform 2 (identifier: Q9P212-2)
Sequence conflicti69L → P in AAG28341 (PubMed:11022047).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031843469S → T.Corresponds to variant rs17508082dbSNPEnsembl.1
Natural variantiVAR_031844548R → L.Corresponds to variant rs17417407dbSNPEnsembl.1
Natural variantiVAR_0298831484S → L in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis. 1 PublicationCorresponds to variant rs121912605dbSNPEnsembl.1
Natural variantiVAR_0318451575R → P.Corresponds to variant rs2274224dbSNPEnsembl.1
Natural variantiVAR_0318461777T → I.2 PublicationsCorresponds to variant rs3765524dbSNPEnsembl.1
Natural variantiVAR_0318471927H → R.4 PublicationsCorresponds to variant rs2274223dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0213351 – 308Missing in isoform 2. 2 PublicationsAdd BLAST308
Alternative sequenceiVSP_021336309 – 402DVEED…AQWYP → MVSEGSAAGRDFAGMEEVRQ LHVRFCKGIKIWHQAWFLCS LLGREPQEREAGCQLWLCTL SAVLKVGWLFPLSEVPNFTL LKDGCGCWRLKEDQ in isoform 2. 2 PublicationsAdd BLAST94

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
, AL139124, AL365510, AL389885 Genomic DNA. Translation: CAH70739.1. Sequence problems.
AL139118
, AL139124, AL365510, AL389885 Genomic DNA. Translation: CAH70740.1.
AL389885
, AL139118, AL139124, AL365510 Genomic DNA. Translation: CAH73288.1. Sequence problems.
AL389885
, AL139118, AL139124, AL365510 Genomic DNA. Translation: CAH73289.1.
AL365510
, AL139118, AL139124, AL389885 Genomic DNA. Translation: CAH73757.1. Sequence problems.
AL365510
, AL139118, AL139124, AL389885 Genomic DNA. Translation: CAH73758.1.
AL139124
, AL139118, AL365510, AL389885 Genomic DNA. Translation: CAI16674.1. Sequence problems.
AL139124
, AL139118, AL365510, AL389885 Genomic DNA. Translation: CAI16675.1.
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.
CCDSiCCDS41552.1. [Q9P212-1]
CCDS53555.1. [Q9P212-2]
RefSeqiNP_001159451.1. NM_001165979.2. [Q9P212-2]
NP_001275918.1. NM_001288989.1.
NP_057425.3. NM_016341.3. [Q9P212-1]
UniGeneiHs.655033.

Genome annotation databases

EnsembliENST00000371375; ENSP00000360426; ENSG00000138193. [Q9P212-2]
ENST00000371380; ENSP00000360431; ENSG00000138193. [Q9P212-1]
ENST00000371385; ENSP00000360438; ENSG00000138193. [Q9P212-2]
GeneIDi51196.
KEGGihsa:51196.
UCSCiuc001kjk.4. human. [Q9P212-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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
, AL139124, AL365510, AL389885 Genomic DNA. Translation: CAH70739.1. Sequence problems.
AL139118
, AL139124, AL365510, AL389885 Genomic DNA. Translation: CAH70740.1.
AL389885
, AL139118, AL139124, AL365510 Genomic DNA. Translation: CAH73288.1. Sequence problems.
AL389885
, AL139118, AL139124, AL365510 Genomic DNA. Translation: CAH73289.1.
AL365510
, AL139118, AL139124, AL389885 Genomic DNA. Translation: CAH73757.1. Sequence problems.
AL365510
, AL139118, AL139124, AL389885 Genomic DNA. Translation: CAH73758.1.
AL139124
, AL139118, AL365510, AL389885 Genomic DNA. Translation: CAI16674.1. Sequence problems.
AL139124
, AL139118, AL365510, AL389885 Genomic DNA. Translation: CAI16675.1.
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.
CCDSiCCDS41552.1. [Q9P212-1]
CCDS53555.1. [Q9P212-2]
RefSeqiNP_001159451.1. NM_001165979.2. [Q9P212-2]
NP_001275918.1. NM_001288989.1.
NP_057425.3. NM_016341.3. [Q9P212-1]
UniGeneiHs.655033.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2BYENMR-A2006-2114[»]
2BYFNMR-A2131-2246[»]
2C5LX-ray1.90C/D2131-2246[»]
ProteinModelPortaliQ9P212.
SMRiQ9P212.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119370. 5 interactors.
IntActiQ9P212. 3 interactors.
MINTiMINT-1420367.
STRINGi9606.ENSP00000260766.

Chemistry databases

SwissLipidsiSLP:000000663.

PTM databases

iPTMnetiQ9P212.
PhosphoSitePlusiQ9P212.

Polymorphism and mutation databases

BioMutaiPLCE1.
DMDMi118595723.

Proteomic databases

PaxDbiQ9P212.
PeptideAtlasiQ9P212.
PRIDEiQ9P212.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371375; ENSP00000360426; ENSG00000138193. [Q9P212-2]
ENST00000371380; ENSP00000360431; ENSG00000138193. [Q9P212-1]
ENST00000371385; ENSP00000360438; ENSG00000138193. [Q9P212-2]
GeneIDi51196.
KEGGihsa:51196.
UCSCiuc001kjk.4. human. [Q9P212-1]

Organism-specific databases

CTDi51196.
DisGeNETi51196.
GeneCardsiPLCE1.
H-InvDBHIX0009051.
HIX0035415.
HGNCiHGNC:17175. PLCE1.
HPAiHPA015597.
HPA015598.
MalaCardsiPLCE1.
MIMi608414. gene.
610725. phenotype.
neXtProtiNX_Q9P212.
OpenTargetsiENSG00000138193.
Orphaneti93217. Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA33391.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0169. Eukaryota.
ENOG410XPSW. LUCA.
GeneTreeiENSGT00730000110782.
HOVERGENiHBG059220.
InParanoidiQ9P212.
KOiK05860.
OMAiQHTACQL.
OrthoDBiEOG091G03PC.
PhylomeDBiQ9P212.
TreeFamiTF314432.

Enzyme and pathway databases

BioCyciMetaCyc:HS06473-MONOMER.
ZFISH:HS06473-MONOMER.
BRENDAi3.1.4.11. 2681.
ReactomeiR-HSA-1855204. Synthesis of IP3 and IP4 in the cytosol.
SIGNORiQ9P212.

Miscellaneous databases

ChiTaRSiPLCE1. human.
EvolutionaryTraceiQ9P212.
GeneWikiiPLCE1.
GenomeRNAii51196.
PROiQ9P212.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138193.
GenevisibleiQ9P212. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.10.840.10. 2 hits.
2.30.29.30. 1 hit.
2.60.40.150. 1 hit.
3.20.20.190. 3 hits.
InterProiIPR000008. C2_dom.
IPR011992. EF-hand-dom_pair.
IPR011993. PH_dom-like.
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.
IPR001895. RASGEF_cat_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PANTHERiPTHR10336. PTHR10336. 3 hits.
PTHR10336:SF6. PTHR10336:SF6. 3 hits.
PfamiPF00168. 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.
[Graphical view]
PRINTSiPR00390. PHPHLIPASEC.
SMARTiSM00239. C2. 1 hit.
SM00148. PLCXc. 1 hit.
SM00149. PLCYc. 1 hit.
SM00314. RA. 1 hit.
SM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
SSF48366. SSF48366. 3 hits.
SSF49562. SSF49562. 1 hit.
SSF51695. SSF51695. 3 hits.
SSF54236. SSF54236. 2 hits.
PROSITEiPS50004. C2. 1 hit.
PS50007. PIPLC_X_DOMAIN. 1 hit.
PS50008. PIPLC_Y_DOMAIN. 1 hit.
PS50200. RA. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPLCE1_HUMAN
AccessioniPrimary (citable) accession number: Q9P212
Secondary accession number(s): A6NGW0
, A6NLA1, A7MBN7, A8K1D7, B9EIJ6, Q1X6H8, Q5VWL4, Q5VWL5, Q9H9X8, Q9HBX6, Q9HC53, Q9UHV3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: November 30, 2016
This is version 148 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.