phospholipase C epsilon 1

Summary
Gene Symbol
  • PLCE1
Aliases
  • KIAA1516
  • NPHS3
  • PLCE
  • nephrosis type 3
  • phosphoinositide phospholipase C
Organism
Homo sapiens (human)
External Links
NCBI Gene
51196
HGNC
17175
KEGG Gene ID
hsa:51196
PubChem
51196
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Calcium
  • Cell membrane
  • Cell projection
  • Cytoplasm
  • Disease variant
  • Golgi apparatus
  • Guanine-nucleotide releasing factor
  • Hydrolase
  • Lipid degradation
  • Metal-binding
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Transducer
Proteins
Displaying all 3 entries
UniProt Protein Name
Q9P212
  • Pancreas-enriched phospholipase C
  • Phosphoinositide phospholipase C-epsilon-1
  • Phospholipase C-epsilon-1
B7ZM61
A0A8I5KXT2
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000138193

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K05860
Name
phosphatidylinositol phospholipase C, epsilon [EC:3.1.4.11]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 146 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050540 Charcot-Marie-Tooth disease type 3
DOID:0050865 tongue squamous cell carcinoma
DOID:0050908 myelodysplastic syndrome
DOID:0060402 chromosome 17p13.1 deletion syndrome
DOID:0060469 Miller-Dieker lissencephaly syndrome
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0080199 colorectal carcinoma
DOID:0080379 nephrotic syndrome type 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 22 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000093 Proteinuria
HP:0000097 Focal segmental glomerulosclerosis
HP:0000100 Nephrotic syndrome
HP:0000707 Abnormality of the nervous system
HP:0000737 Irritability
HP:0000969 Edema
HP:0001945 Fever
HP:0001967 Diffuse mesangial sclerosis
HP:0002027 Abdominal pain
Displaying all 2 entries
Disease ID Disease Name
ORPHA:656
  • familial idiopathic steroid-resistant nephrotic syndrome
  • focal segmental glomerulosclerosis 6
  • focal segmental glomerulosclerosis 7
OMIM:610725
  • nephrotic syndrome, type 3
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP005023
Gene Name
phospholipase C, epsilon 1

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Last updated: August 19, 2024