ENSG00000213398


Homo sapiens

Features
Gene ID: ENSG00000213398
  
Biological name :LCAT
  
Synonyms : LCAT / lecithin-cholesterol acyltransferase / P04180
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q22.1
Gene start: 67939750
Gene end: 67944131
  
Corresponding Affymetrix probe sets: 204428_s_at (Human Genome U133 Plus 2.0 Array)   216390_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000460653
Ensembl peptide - ENSP00000464651
Ensembl peptide - ENSP00000463220
Ensembl peptide - ENSP00000264005
Ensembl peptide - ENSP00000458141
Ensembl peptide - ENSP00000459014
Ensembl peptide - ENSP00000459291
NCBI entrez gene - 3931     See in Manteia.
OMIM - 606967
RefSeq - NM_000229
RefSeq Peptide - NP_000220
swissprot - I3L215
swissprot - I3L3R0
swissprot - J3QKT0
swissprot - J3QSE5
swissprot - A0A140VK24
swissprot - P04180
swissprot - I3L0J6
swissprot - I3L1Q6
Ensembl - ENSG00000213398
  
Related genetic diseases (OMIM): 136120 - Fish-eye disease, 136120
  245900 - Norum disease, 245900
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
 lcatENSDARG00000099424Danio rerio
 LCATENSGALG00000028928Gallus gallus
 LcatENSMUSG00000035237Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8NCC3 / PLA2G15 / phospholipase A2 group XVENSG0000010306644


Protein motifs (from Interpro)
Interpro ID Name
 IPR003386  Lecithin:cholesterol/phospholipid:diacylglycerol acyltransferase
 IPR029058  Alpha/Beta hydrolase fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006644 phospholipid metabolic process IDA
 biological_processGO:0006656 phosphatidylcholine biosynthetic process IDA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0030301 cholesterol transport IDA
 biological_processGO:0034372 very-low-density lipoprotein particle remodeling IDA
 biological_processGO:0034375 high-density lipoprotein particle remodeling TAS
 biological_processGO:0034435 cholesterol esterification IDA
 biological_processGO:0042158 lipoprotein biosynthetic process IEA
 biological_processGO:0042632 cholesterol homeostasis IDA
 biological_processGO:0043691 reverse cholesterol transport IDA
 biological_processGO:0046470 phosphatidylcholine metabolic process IDA
 biological_processGO:0090107 regulation of high-density lipoprotein particle assembly IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0034364 high-density lipoprotein particle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004607 phosphatidylcholine-sterol O-acyltransferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008374 O-acyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0034186 apolipoprotein A-I binding IPI


Pathways (from Reactome)
Pathway description
HDL remodeling


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:0000083 Renal failure 
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 HP:0000093 Proteinuria 
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 HP:0000505 Impaired vision 
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 HP:0001681 Angina pectoris 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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 HP:0001895 Normochromic anemia 
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 HP:0002155 Hypertriglyceridemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002621 Atherosclerosis "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0003141 Increased beta-lipoproteins "An increase in the blood concentration of beta lipoprotein, which is a low-density lipoprotein involved in the blood transport of cholesterol." [HPO:curators]
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 HP:0003233 Decreased HDL cholesterol 
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 HP:0003362 Increased plasma VLDL 
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 HP:0007759 Corneal opacities, not impairing visual acuity 
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 HP:0007957 Variable degree of corneal opacities 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000118137 APOA1 / P02647 / apolipoprotein A1  / reaction / complex






 

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