PLCE1 - phospholipase C epsilon 1 Gene

Also Known as PLCE; PPLC; NPHS3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51196

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	References	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	References	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	References	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	FS
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

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 Set	/	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
Others	PLCE1	NCBI