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PLCE1
HPA
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  • PLCE1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PLCE1
Synonyms KIAA1516, NPHS3, PLCE
Gene descriptioni

Full gene name according to HGNC.

Phospholipase C epsilon 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Plasma proteins
Potential drug targets
RAS pathway related proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 10
Cytoband q23.33
Chromosome location (bp) 93993931 - 94332823
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

9
Ensembl ENSG00000138193 (version 109)
Entrez gene 51196
HGNC HGNC:17175
UniProt Q9P212 (UniProt - Evidence at protein level)
neXtProt NX_Q9P212
GeneCards PLCE1
Antibodypedia PLCE1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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 downstream of AVIL to allow ARP2/3 complex assembly 1.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Guanine-nucleotide releasing factor, Hydrolase, Transducer
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Lipid degradation, Lipid metabolism
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Calcium, Metal-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PLCE1-201
ENSP00000360426
ENST00000371375
Q9P212
[Direct mapping] 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
RAS pathway related proteins
Disease related genes
Potential drug targets
Human disease related genes
   Urinary system diseases
   Kidney diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0001558 [regulation of cell growth]
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0004629 [phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006629 [lipid metabolic process]
GO:0006651 [diacylglycerol biosynthetic process]
GO:0006940 [regulation of smooth muscle contraction]
GO:0007010 [cytoskeleton organization]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007200 [phospholipase C-activating G protein-coupled receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007507 [heart development]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0008277 [regulation of G protein-coupled receptor signaling pathway]
GO:0010592 [positive regulation of lamellipodium assembly]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0019722 [calcium-mediated signaling]
GO:0019899 [enzyme binding]
GO:0030027 [lamellipodium]
GO:0031267 [small GTPase binding]
GO:0032835 [glomerulus development]
GO:0035556 [intracellular signal transduction]
GO:0042995 [cell projection]
GO:0043410 [positive regulation of MAPK cascade]
GO:0045859 [regulation of protein kinase activity]
GO:0046578 [regulation of Ras protein signal transduction]
GO:0046872 [metal ion binding]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048016 [inositol phosphate-mediated signaling]
Show all
1994 aa
223.9 kDa
No 0
PLCE1-202
ENSP00000360431
ENST00000371380
Q9P212
[Direct mapping] 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
RAS pathway related proteins
Disease related genes
Potential drug targets
Human disease related genes
   Urinary system diseases
   Kidney diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0001558 [regulation of cell growth]
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0004629 [phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006629 [lipid metabolic process]
GO:0006651 [diacylglycerol biosynthetic process]
GO:0006940 [regulation of smooth muscle contraction]
GO:0007010 [cytoskeleton organization]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007200 [phospholipase C-activating G protein-coupled receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007507 [heart development]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0008277 [regulation of G protein-coupled receptor signaling pathway]
GO:0010592 [positive regulation of lamellipodium assembly]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0019722 [calcium-mediated signaling]
GO:0019899 [enzyme binding]
GO:0030027 [lamellipodium]
GO:0031267 [small GTPase binding]
GO:0032835 [glomerulus development]
GO:0035556 [intracellular signal transduction]
GO:0042995 [cell projection]
GO:0043410 [positive regulation of MAPK cascade]
GO:0045859 [regulation of protein kinase activity]
GO:0046578 [regulation of Ras protein signal transduction]
GO:0046872 [metal ion binding]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048016 [inositol phosphate-mediated signaling]
Show all
2302 aa
258.7 kDa
No 0
PLCE1-203
ENSP00000360438
ENST00000371385
A0A7I2PPM5
[Direct mapping] Phosphoinositide phospholipase C
Show all
Metabolic proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Urinary system diseases
   Kidney diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0006629 [lipid metabolic process]
GO:0007165 [signal transduction]
GO:0007264 [small GTPase mediated signal transduction]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0035556 [intracellular signal transduction]
Show all
1960 aa
220.1 kDa
No 0
PLCE1-206
ENSP00000502523
ENST00000674827
A0A6Q8PH04
[Direct mapping] Phosphoinositide phospholipase C
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Urinary system diseases
   Kidney diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0006629 [lipid metabolic process]
GO:0007165 [signal transduction]
GO:0007264 [small GTPase mediated signal transduction]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0035556 [intracellular signal transduction]
Show all
1528 aa
171.8 kDa
No 0
PLCE1-207
ENSP00000501910
ENST00000675218
Q9P212
[Direct mapping] 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
RAS pathway related proteins
Disease related genes
Potential drug targets
Human disease related genes
   Urinary system diseases
   Kidney diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0001558 [regulation of cell growth]
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0004629 [phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006629 [lipid metabolic process]
GO:0006651 [diacylglycerol biosynthetic process]
GO:0006940 [regulation of smooth muscle contraction]
GO:0007010 [cytoskeleton organization]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007200 [phospholipase C-activating G protein-coupled receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007507 [heart development]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0008277 [regulation of G protein-coupled receptor signaling pathway]
GO:0010592 [positive regulation of lamellipodium assembly]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0019722 [calcium-mediated signaling]
GO:0019899 [enzyme binding]
GO:0030027 [lamellipodium]
GO:0031267 [small GTPase binding]
GO:0032835 [glomerulus development]
GO:0035556 [intracellular signal transduction]
GO:0042995 [cell projection]
GO:0043410 [positive regulation of MAPK cascade]
GO:0045859 [regulation of protein kinase activity]
GO:0046578 [regulation of Ras protein signal transduction]
GO:0046872 [metal ion binding]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048016 [inositol phosphate-mediated signaling]
Show all
1994 aa
223.9 kDa
No 0
PLCE1-210
ENSP00000502811
ENST00000676102
A0A6Q8PHN3
[Direct mapping] Phosphoinositide phospholipase C
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Urinary system diseases
   Kidney diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0006629 [lipid metabolic process]
GO:0007264 [small GTPase mediated signal transduction]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0035556 [intracellular signal transduction]
Show all
1370 aa
152.7 kDa
No 0
PLCE1-217
ENSP00000509140
ENST00000688810
A0A8I5KXT2
[Direct mapping] Phosphoinositide phospholipase C
Show all
Metabolic proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Urinary system diseases
   Kidney diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0006629 [lipid metabolic process]
GO:0007165 [signal transduction]
GO:0007264 [small GTPase mediated signal transduction]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0035556 [intracellular signal transduction]
Show all
1978 aa
222.3 kDa
No 0
PLCE1-222
ENSP00000509490
ENST00000692286
A0A8I5KVG7
[Direct mapping] Phosphoinositide phospholipase C
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Urinary system diseases
   Kidney diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0006629 [lipid metabolic process]
GO:0007165 [signal transduction]
GO:0007264 [small GTPase mediated signal transduction]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0035556 [intracellular signal transduction]
Show all
2231 aa
251.1 kDa
No 0
PLCE1-223
ENSP00000508605
ENST00000692396
B7ZM61
[Direct mapping] Phosphoinositide phospholipase C
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Urinary system diseases
   Kidney diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004435 [phosphatidylinositol phospholipase C activity]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0006629 [lipid metabolic process]
GO:0007165 [signal transduction]
GO:0007264 [small GTPase mediated signal transduction]
GO:0008081 [phosphoric diester hydrolase activity]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0035556 [intracellular signal transduction]
Show all
2286 aa
257.1 kDa
No 0

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