PLCE1 - phospholipase C epsilon 1 Gene

Homo sapiens

Also known as PLCE; PPLC; NPHS3

Gene ID: 51196 | Gene type: protein coding

About PLCE1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,993,931-94,332,823 (from NCBI)

This gene has 23 transcripts (splice variants), 223 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 6.3), endometrium (RPKM 5.5) and 21 other tissues.

Summary

This gene encodes a Phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate 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]

PLCE1 Products(3)

mRNA	Protein	Name
NM_001165979.2	NP_001159451.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2
NM_001288989.2	NP_001275918.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 3
NM_016341.4	NP_057425.3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	11022048	GOA
enables phosphatidylinositol phospholipase C activity	IDA IDA: Inferred from direct assay	11022047	GOA
enables phospholipase C activity	IDA IDA: Inferred from direct assay	11022047	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11022048	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	11022048	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Ras protein signal transduction	IDA IDA: Inferred from direct assay	11022048	GOA
involved in diacylglycerol biosynthetic process	IMP IMP: Inferred from mutant phenotype	29058690	GOA
involved in epidermal growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	29058690	GOA
involved in glomerulus development	IMP IMP: Inferred from mutant phenotype	17086182	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	11022047	GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	11022047	GOA
involved in positive regulation of lamellipodium assembly	IMP IMP: Inferred from mutant phenotype	29058690	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	11022048	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	29058690	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11022048	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLCE1 Protein Structure

RasGEF

EF-hand_like

PI-PLC-X

PI-PLC-Y

0
400
800
1200
1600
2000
2302 a.a.

Protein Preferred Names

Protein Names

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

PLC-epsilon-1

Related Diseases

Diseases

Alias

Nephrotic Syndrome, Type 3

NPHS3	Nephrotic Syndrome Type 3
Nephrotic Syndrome, Early-Onset, Type 3	Early Onset Nephrotic Syndrome Type 3
Nephrotic Syndrome 3	Early-Onset Nephrotic Syndrome Type 3

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Genetic Srns
Hereditary Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Nephrotic Syndrome
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive	Srn1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Diffuse Mesangial Sclerosis

Familial Mesangial Sclerosis	Mesangial Sclerosis, Diffuse
Dms	Diffuse Isolated Mesangial Sclerosis
Isolated Diffuse Mesangial Sclerosis	Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis

Cardia Cancer

Ca Cardia - Stomach

Malignant Neoplasm Of Cardia Of Stomach

Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome	Nephrosis, Congenital
Finnish Congenital Nephrotic Syndrome

Focal Segmental Glomerulosclerosis 7

FSGS7	Glomerulosclerosis, Focal Segmental, 7
Glomerulosclerosis, Focal Segmental, Type 7

Gastric Cardia Carcinoma

Carcinoma Of Cardia Of Stomach

Congenital Syphilis

Syphilis, Congenital	Congenital Syphilis, Unspecified
Mtct Of Syphilis	Mother-To-Child Transmission Of Syphilis
Syphilis Congenital	Hereditary Syphilis
Heredosyphilis

Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome	Microcoria-Congenital Nephrosis Syndrome
PIERS	Microcoria - Congenital Nephrosis
Microcoria - Congenital Nephrotic Syndrome	PIERSS

Frasier Syndrome

Gastric Cardia Adenocarcinoma

Adenocarcinoma Of Cardia Of Stomach

Adenocarcinoma Of Gastric Cardia

Denys-Drash Syndrome

Drash Syndrome	DDS
Nephropathy, Wilms Tumor, And Genital Anomalies	Wilms Tumor And Pseudohermaphroditism
Wilms Tumor And Pseudo- Or True Hermaphroditism	Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor
Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor	Wilms Tumor-Dsd Syndrome
Wilms Tumor-Disorder Of Sex Development Syndrome

Asymptomatic Dengue

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Nail-Patella Syndrome

Turner-Kieser Syndrome	Onychoosteodysplasia
Fong Disease	NPS
Hereditary Onycho-Osteodysplasia	Nps1
Hereditary Onychoostedysplasia	Iliac Horn Syndrome
Nail Patella Syndrome	Turner-Kiser Syndrome
Arthro-Onychodysplasia	Nps 1
Osteo-Onychodysplasia	Hereditary Osteo-Onychodysplasia
Osterreicher Syndrome	Pelvic Horn Syndrome
Österreicher-Turner Syndrome	Nps - [Nail-Patella Syndrome]
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Dengue Shock Syndrome

Dss

Galloway-Mowat Syndrome 1

Galloway Syndrome	Nephrosis-Neuronal Dysmigration Syndrome
Nephrosis-Microcephaly Syndrome	Camos
Scar5	GAMOS1
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Microcephaly, Hiatal Hernia And Nephrotic Syndrome
Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities	Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly
Scar5, Formerly	Spinocerebellar Ataxia Autosomal Recessive 5
Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities	Camos Syndrome
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome	Galloway-Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive, 5	Galloway Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 5

Esophageal Cancer

Esophageal Carcinoma	Carcinoma Of Esophagus
Esophageal Squamous Cell Carcinoma, Somatic	Esophageal Carcinoma, Somatic
Esophagus Cancer	Gastric Cardia Adenocarcinoma
Esophageal Neoplasms	Esophageal Cancer, Somatic
Cancer Of Esophagus	Cancer Of Oesophagus
Carcinoma Of Oesophagus	Ca Lower Third Oesophagus
Ca Middle Third Oesophagus	Malignant Neoplasm Of Distal Third Of Esophagus
Malignant Neoplasm Of Lower Third Of Oesophagus	Malignant Neoplasm Of Middle Third Of Oesophagus
Malignant Neoplasm Of Proximal Third Of Esophagus	Malignant Neoplasm Of Upper Third Esophagus
Malignant Tumor Of Abdominal Esophagus	Malignant Tumor Of Distal Third Of Esophagus
Malignant Tumor Of Proximal Third Of Esophagus	Malignant Tumor Of The Middle Third Of The Esophagus
ESCR	Aerodigestive Tract Cancer
Escc	Esophageal Squamous Cell Carcinoma
Cancer, Esophageal	Malignant Neoplasm Of Esophagus
Squamous Cell Carcinoma Of Esophagus	Malignant Neoplasm Of Middle Third Of Esophagus

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome	11p Partial Monosomy Syndrome
Chromosome 11p13 Deletion Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
11p Deletion Syndrome	Chromosome 11p Deletion Syndrome
Wagr Complex	Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
Deletion 11p13	WAGR
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	Chromosome 11p Deletion
11p Deletion	11p Monosomy
Deletion 11p	Monosomy 11p
Partial Monosomy 11p	Agr Triad
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
Wagr Contiguous Gene Syndrome	Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome	Del(11)(P13)
Monosomy 11p13	Chromosome 11, Deletion 11p

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10659	PLCE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PLCE1	VGNC	VGNC:64209
Macaca mulatta	PLCE1	VGNC	VGNC:76043
Mus musculus	PLCE1	MGD	MGI:1921305
Rattus norvegicus	PLCE1	RGD	RGD:69424
Bos taurus	PLCE1	VGNC	VGNC:32987
Canis familiaris	PLCE1	VGNC	VGNC:44650

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