ENSG00000138193


Homo sapiens

Features
Gene ID: ENSG00000138193
  
Biological name :PLCE1
  
Synonyms : phospholipase C epsilon 1 / PLCE1 / Q9P212
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q23.33
Gene start: 94030812
Gene end: 94332823
  
Corresponding Affymetrix probe sets: 1566739_at (Human Genome U133 Plus 2.0 Array)   1566740_at (Human Genome U133 Plus 2.0 Array)   205111_s_at (Human Genome U133 Plus 2.0 Array)   205112_at (Human Genome U133 Plus 2.0 Array)   214159_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360426
Ensembl peptide - ENSP00000360431
Ensembl peptide - ENSP00000360438
NCBI entrez gene - 51196     See in Manteia.
OMIM - 608414
RefSeq - XM_017016312
RefSeq - NM_001165979
RefSeq - NM_001288989
RefSeq - NM_016341
RefSeq - XM_011539849
RefSeq - XM_011539850
RefSeq - XM_017016310
RefSeq - XM_017016311
RefSeq - XM_006717885
RefSeq - XM_006717888
RefSeq - XM_006717889
RefSeq - XM_006717890
RefSeq Peptide - NP_001275918
RefSeq Peptide - NP_057425
RefSeq Peptide - NP_001159451
swissprot - Q9P212
Ensembl - ENSG00000138193
  
Related genetic diseases (OMIM): 610725 - Nephrotic syndrome, type 3, 610725
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 plce1ENSDARG00000087921Danio rerio
 ENSGALG00000039528Gallus gallus
 ENSGALG00000040799Gallus gallus
 Plce1ENSMUSG00000024998Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PLCG1 / P19174 / phospholipase C gamma 1ENSG0000012418113
PLCG2 / P16885 / phospholipase C gamma 2ENSG0000019794313


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000159  Ras-associating (RA) domain
 IPR000909  Phosphatidylinositol-specific phospholipase C, X domain
 IPR001192  Phosphoinositide phospholipase C family
 IPR001711  Phospholipase C, phosphatidylinositol-specific, Y domain
 IPR001895  Ras guanine-nucleotide exchange factors catalytic domain
 IPR011992  EF-hand domain pair
 IPR015359  Phosphoinositide-specific phospholipase C, EF-hand-like domain
 IPR017946  PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
 IPR023578  Ras guanine nucleotide exchange factor domain superfamily
 IPR028398  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
 IPR029071  Ubiquitin-like domain superfamily
 IPR035892  C2 domain superfamily
 IPR036964  Ras guanine-nucleotide exchange factor catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000187 activation of MAPK activity IDA
 biological_processGO:0001558 regulation of cell growth TAS
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006644 phospholipid metabolic process IC
 biological_processGO:0006651 diacylglycerol biosynthetic process TAS
 biological_processGO:0006940 regulation of smooth muscle contraction TAS
 biological_processGO:0007010 cytoskeleton organization NAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway NAS
 biological_processGO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway IDA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration TAS
 biological_processGO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway NAS
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0007265 Ras protein signal transduction TAS
 biological_processGO:0007507 heart development TAS
 biological_processGO:0008277 regulation of G-protein coupled receptor protein signaling pathway IDA
 biological_processGO:0008283 cell proliferation NAS
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0019722 calcium-mediated signaling TAS
 biological_processGO:0032835 glomerulus development IMP
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0043647 inositol phosphate metabolic process TAS
 biological_processGO:0045859 regulation of protein kinase activity IDA
 biological_processGO:0046578 regulation of Ras protein signal transduction IDA
 biological_processGO:0048016 inositol phosphate-mediated signaling TAS
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0004435 phosphatidylinositol phospholipase C activity TAS
 molecular_functionGO:0004629 phospholipase C activity IDA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005057 obsolete signal transducer activity, downstream of receptor TAS
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0017016 Ras GTPase binding TAS
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Synthesis of IP3 and IP4 in the cytosol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000093 Proteinuria 
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 HP:0000097 Focal segmental glomerulosclerosis 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0001967 Diffuse mesangial sclerosis 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0003774 End stage renal disease 
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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