ENSG00000166035


Homo sapiens

Features
Gene ID: ENSG00000166035
  
Biological name :LIPC
  
Synonyms : lipase C, hepatic type / LIPC / P11150
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q21.3
Gene start: 58410569
Gene end: 58569843
  
Corresponding Affymetrix probe sets: 206606_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000348425
Ensembl peptide - ENSP00000395569
Ensembl peptide - ENSP00000395002
Ensembl peptide - ENSP00000299022
NCBI entrez gene - 3990     See in Manteia.
OMIM - 151670
RefSeq - XM_005254372
RefSeq - XM_005254374
RefSeq - XM_006720502
RefSeq - NM_000236
RefSeq Peptide - NP_000227
swissprot - P11150
swissprot - E7EUJ1
swissprot - E7EUK6
Ensembl - ENSG00000166035
  
Related genetic diseases (OMIM): 125853 - {Diabetes mellitus, noninsulin-dependent}, 125853
  612797 - [High density lipoprotein cholesterol level QTL 12], 612797
  614025 - Hepatic lipase deficiency, 614025
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
 lipcaENSDARG00000053476Danio rerio
 lipcbENSDARG00000090486Danio rerio
 LIPCENSGALG00000004230Gallus gallus
 LipcENSMUSG00000032207Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LIPG / Q9Y5X9 / lipase G, endothelial typeENSG0000010167041
LPL / P06858 / lipoprotein lipaseENSG0000017544541
P54315 / PNLIPRP1 / pancreatic lipase related protein 1ENSG0000018702128
PNLIP / P16233 / pancreatic lipaseENSG0000017553528
Q17RR3 / PNLIPRP3 / pancreatic lipase related protein 3ENSG0000020383728
PNLIPRP2 / pancreatic lipase related protein 2 (gene/pseudogene)ENSG0000026620027
LIPH / Q8WWY8 / lipase HENSG0000016389826
LIPI / Q6XZB0 / lipase IENSG0000018899225
PLA1A / Q53H76 / phospholipase A1 member AENSG0000014483725


Protein motifs (from Interpro)
Interpro ID Name
 IPR000734  Triacylglycerol lipase family
 IPR001024  PLAT/LH2 domain
 IPR002333  Hepatic lipase
 IPR013818  Lipase/vitellogenin
 IPR016272  Lipase, LIPH-type
 IPR029058  Alpha/Beta hydrolase fold
 IPR033906  Lipase, N-terminal
 IPR036392  PLAT/LH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006633 fatty acid biosynthetic process IDA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0019433 triglyceride catabolic process IDA
 biological_processGO:0030301 cholesterol transport IEA
 biological_processGO:0034372 very-low-density lipoprotein particle remodeling IDA
 biological_processGO:0034373 intermediate-density lipoprotein particle remodeling TAS
 biological_processGO:0034374 low-density lipoprotein particle remodeling IMP
 biological_processGO:0034375 high-density lipoprotein particle remodeling IMP
 biological_processGO:0034382 chylomicron remnant clearance TAS
 biological_processGO:0034638 phosphatidylcholine catabolic process TAS
 biological_processGO:0042632 cholesterol homeostasis IEA
 biological_processGO:0043691 reverse cholesterol transport IC
 biological_processGO:0051004 regulation of lipoprotein lipase activity TAS
 biological_processGO:0070328 triglyceride homeostasis IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0034364 high-density lipoprotein particle IEA
 molecular_functionGO:0004620 phospholipase activity TAS
 molecular_functionGO:0004806 triglyceride lipase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0016298 lipase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0030169 low-density lipoprotein particle binding ISS
 molecular_functionGO:0034185 apolipoprotein binding ISS
 molecular_functionGO:0052689 carboxylic ester hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Assembly of active LPL and LIPC lipase complexes
Chylomicron clearance


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:0001013 Eruptive xanthomas 
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 HP:0001681 Angina pectoris 
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 HP:0002155 Hypertriglyceridemia 
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 HP:0005181 Premature coronary artery disease 
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 HP:0012184 Hyperalphalipoproteinemia "An elevated concentration of `high-density lipoprotein cholesterol` (CHEBI:47775) (HDL) in the `blood` (FMA:9670)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000166035 LIPC / P11150 / lipase C, hepatic type  / complex
 ENSG00000103227 LMF1 / Q96S06 / lipase maturation factor 1  / reaction / complex






 

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