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Aliases for LCAT Gene

Aliases for LCAT Gene

  • Lecithin-Cholesterol Acyltransferase 2 3 4 5
  • EC 2.3.1.43 4 63
  • Phosphatidylcholine--Sterol O-Acyltransferase 2
  • Phospholipid-Cholesterol Acyltransferase 4

External Ids for LCAT Gene

Previous GeneCards Identifiers for LCAT Gene

  • GC16M058668
  • GC16M068351
  • GC16M067709
  • GC16M067750
  • GC16M066532
  • GC16M067973
  • GC16M053847

Summaries for LCAT Gene

Entrez Gene Summary for LCAT Gene

  • This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for LCAT Gene

LCAT (Lecithin-Cholesterol Acyltransferase) is a Protein Coding gene. Diseases associated with LCAT include Fish-Eye Disease and Norum Disease. Among its related pathways are Metabolism and Lipoprotein metabolism. GO annotations related to this gene include O-acyltransferase activity and phosphatidylcholine-sterol O-acyltransferase activity. An important paralog of this gene is PLA2G15.

UniProtKB/Swiss-Prot for LCAT Gene

  • Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107). Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751).

Gene Wiki entry for LCAT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LCAT Gene

Genomics for LCAT Gene

Regulatory Elements for LCAT Gene

Enhancers for LCAT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LCAT on UCSC Golden Path with GeneCards custom track

Promoters for LCAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LCAT on UCSC Golden Path with GeneCards custom track

Genomic Location for LCAT Gene

Chromosome:
16
Start:
67,939,750 bp from pter
End:
67,944,131 bp from pter
Size:
4,382 bases
Orientation:
Minus strand

Genomic View for LCAT Gene

Genes around LCAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCAT Gene

Proteins for LCAT Gene

  • Protein details for LCAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04180-LCAT_HUMAN
    Recommended name:
    Phosphatidylcholine-sterol acyltransferase
    Protein Accession:
    P04180
    Secondary Accessions:
    • Q53XQ3

    Protein attributes for LCAT Gene

    Size:
    440 amino acids
    Molecular mass:
    49578 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Levels of LCAT activity correlates inversely with leptin levels as well as with obesity for a wide range of BMI values.

    Three dimensional structures from OCA and Proteopedia for LCAT Gene

neXtProt entry for LCAT Gene

Proteomics data for LCAT Gene at MOPED

Post-translational modifications for LCAT Gene

  • O- and N-glycosylated. O-glycosylation on Thr-431 and Ser-433 consists of sialylated galactose beta 1-->3N-acetylgalactosamine structures. N-glycosylated sites contain sialylated triantennary and/or biantennary complex structures.
  • Glycosylation at Asn 44, Asn 108, Asn 296, Asn 408, Thr 431, and Ser 433
  • Modification sites at PhosphoSitePlus

Other Protein References for LCAT Gene

Domains & Families for LCAT Gene

Protein Domains for LCAT Gene

Suggested Antigen Peptide Sequences for LCAT Gene

Graphical View of Domain Structure for InterPro Entry

P04180

UniProtKB/Swiss-Prot:

LCAT_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with LCAT: view

No data available for Gene Families for LCAT Gene

Function for LCAT Gene

Molecular function for LCAT Gene

GENATLAS Biochemistry:
lecithin-cholesterol acyltransferase,47kDa,liver,plasma lipid transport
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.97 mM for LDL {ECO:0000269 PubMed:10329423}; KM=0.4 mM for HDL(2) {ECO:0000269 PubMed:10329423}; KM=0.10 mM for HDL(3) {ECO:0000269 PubMed:10329423}; Vmax=8.3 mmol/min/mg enzyme with LDL as substrate {ECO:0000269 PubMed:10329423}; Vmax=0.58 mmol/min/mg enzyme with HDL(2) as substrate {ECO:0000269 PubMed:10329423}; Vmax=2.0 mmol/min/mg enzyme with HDL(3) as substrate {ECO:0000269 PubMed:10329423}; Note=Affinity for LDL is 2.3 to 4-fold lower than for HDL. Relative reactivities are 16% for HDL(3), 1.3% for HDL(2) and 6.5% for LDL.;
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylcholine + a sterol = 1-acylglycerophosphocholine + a sterol ester.
UniProtKB/Swiss-Prot EnzymeRegulation:
APOA1 is the most potent activator in plasma. Also activated by APOE, APOC1 and APOA4.
UniProtKB/Swiss-Prot Function:
Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107). Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751).

Enzyme Numbers (IUBMB) for LCAT Gene

Gene Ontology (GO) - Molecular Function for LCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11435418
genes like me logo Genes that share ontologies with LCAT: view
genes like me logo Genes that share phenotypes with LCAT: view

Human Phenotype Ontology for LCAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LCAT Gene

MGI Knock Outs for LCAT:

Animal Model Products

  • Taconic Biosciences Mouse Models for LCAT

No data available for Transcription Factor Targets and HOMER Transcription for LCAT Gene

Localization for LCAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for LCAT Gene

Secreted. Note=Secreted into blood plasma (PubMed:3458198, PubMed:8820107, PubMed:10222237). Produced in astrocytes and secreted into cerebral spinal fluid (CSF). {ECO:0000269 PubMed:10222237, ECO:0000269 PubMed:3458198, ECO:0000269 PubMed:8820107}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LCAT Gene COMPARTMENTS Subcellular localization image for LCAT gene
Compartment Confidence
extracellular 5
nucleus 2
vacuole 2
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for LCAT Gene

Pathways & Interactions for LCAT Gene

genes like me logo Genes that share pathways with LCAT: view

Pathways by source for LCAT Gene

Gene Ontology (GO) - Biological Process for LCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process IDA 4335615
GO:0006656 phosphatidylcholine biosynthetic process IDA 11966470
GO:0030301 cholesterol transport IDA 10559507
GO:0034375 high-density lipoprotein particle remodeling IDA 4335615
genes like me logo Genes that share ontologies with LCAT: view

No data available for SIGNOR curated interactions for LCAT Gene

Drugs & Compounds for LCAT Gene

(32) Drugs for LCAT Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Experimental Pharma Agonist 0
Lecithin Nutra 64

(102) Additional Compounds for LCAT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sterol
CE(10:0)
  • 3b-(Decanoyloxy)-5-cholestene
  • 5-Cholesten-3b-ol caprate
  • Cholest-5-en-3b-ol caprate
  • Cholesterol 3-decanoate
  • Cholesterol 3-decanoic acid
1183-04-6
CE(12:0)
  • (3beta)-Cholest-5-en-3-ol dodecanoate
  • (3beta)-Cholest-5-en-3-ol dodecanoic acid
  • 12:0 Cholesterol ester
  • Cholest-5-en-3-beta-yl laurate
  • Cholest-5-en-3-yl laurate
1908-11-8
CE(14:0)
  • 1-Myristoyl-cholesterol
  • 14:0 Cholesterol ester
  • CE(14:0)
  • CE(14:0/0:0)
  • Cholest-5-en-3-ol (3beta)-tetradecanoate
1989-52-2
CE(14:1(9Z))
  • 1-Myristoleoyl-cholesterol
  • 14:1(9Z) Cholesterol ester
  • CE(14:1)
  • CE(14:1/0:0)
  • CE(14:1n5/0:0)
genes like me logo Genes that share compounds with LCAT: view

Transcripts for LCAT Gene

Unigene Clusters for LCAT Gene

Lecithin-cholesterol acyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LCAT Gene

No ASD Table

Relevant External Links for LCAT Gene

GeneLoc Exon Structure for
LCAT
ECgene alternative splicing isoforms for
LCAT

Expression for LCAT Gene

mRNA expression in normal human tissues for LCAT Gene

mRNA differential expression in normal tissues according to GTEx for LCAT Gene

This gene is overexpressed in Liver (x8.4).

Protein differential expression in normal tissues from HIPED for LCAT Gene

This gene is overexpressed in Serum (29.1), Synovial fluid (23.1), and Plasma (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LCAT Gene



SOURCE GeneReport for Unigene cluster for LCAT Gene Hs.387239

mRNA Expression by UniProt/SwissProt for LCAT Gene

P04180-LCAT_HUMAN
Tissue specificity: Detected in blood plasma (PubMed:3458198, PubMed:8820107, PubMed:10222237). Detected in cerebral spinal fluid (at protein level) (PubMed:10222237). Detected in liver (PubMed:3797244, PubMed:3458198). Expressed mainly in brain, liver and testes.
genes like me logo Genes that share expression patterns with LCAT: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for LCAT Gene

Orthologs for LCAT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LCAT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LCAT 35
  • 89.02 (n)
  • 90.91 (a)
LCAT 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LCAT 35
  • 90.56 (n)
  • 93.15 (a)
LCAT 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lcat 35
  • 85.31 (n)
  • 86.31 (a)
Lcat 16
Lcat 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LCAT 35
  • 99.7 (n)
  • 100 (a)
LCAT 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lcat 35
  • 85.99 (n)
  • 87.76 (a)
oppossum
(Monodelphis domestica)
Mammalia LCAT 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LCAT 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves LCAT 35
  • 73.07 (n)
  • 73.57 (a)
LCAT 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LCAT 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lcat 35
  • 62.31 (n)
  • 66.83 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21118 35
zebrafish
(Danio rerio)
Actinopterygii LOC793137 35
  • 63.91 (n)
  • 62.16 (a)
lcat 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18858 36
  • 33 (a)
ManyToMany
CG31683 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea M05B5.4 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LRO1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9541 36
  • 31 (a)
OneToMany
Species with no ortholog for LCAT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LCAT Gene

ENSEMBL:
Gene Tree for LCAT (if available)
TreeFam:
Gene Tree for LCAT (if available)

Paralogs for LCAT Gene

Paralogs for LCAT Gene

(1) SIMAP similar genes for LCAT Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with LCAT: view

Variants for LCAT Gene

Sequence variations from dbSNP and Humsavar for LCAT Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_004252 Fish-eye disease (FED)
VAR_004253 Lecithin-cholesterol acyltransferase deficiency (LCATD)
VAR_004254 Lecithin-cholesterol acyltransferase deficiency (LCATD)
rs28940886 Lecithin-cholesterol acyltransferase deficiency (LCATD) 67,942,939(-) CCAAC(A/G)CCCCT reference, missense
VAR_004256 Fish-eye disease (FED)

Structural Variations from Database of Genomic Variants (DGV) for LCAT Gene

Variant ID Type Subtype PubMed ID
nsv524363 CNV Loss 19592680
nsv522852 CNV Gain 19592680

Variation tolerance for LCAT Gene

Residual Variation Intolerance Score: 44.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LCAT Gene

Human Gene Mutation Database (HGMD)
LCAT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCAT Gene

Disorders for LCAT Gene

MalaCards: The human disease database

(39) MalaCards diseases for LCAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fish-eye disease
  • lecithin acyltransferase deficiency
norum disease
  • fish-eye disease
complete lcat deficiency
  • norum disease
eye disease
  • eye diseases
arcus senilis
  • arcus of cornea
- elite association - COSMIC cancer census association via MalaCards
Search LCAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LCAT_HUMAN
  • Fish-eye disease (FED) [MIM:136120]: A disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea (fish-eye). {ECO:0000269 PubMed:1516702, ECO:0000269 PubMed:1571050, ECO:0000269 PubMed:15994445, ECO:0000269 PubMed:1737840, ECO:0000269 PubMed:21901787, ECO:0000269 PubMed:8620346, ECO:0000269 PubMed:9261271}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. {ECO:0000269 PubMed:11423760, ECO:0000269 PubMed:12957688, ECO:0000269 PubMed:15994445, ECO:0000269 PubMed:16051254, ECO:0000269 PubMed:16216249, ECO:0000269 PubMed:1681161, ECO:0000269 PubMed:1859405, ECO:0000269 PubMed:2370048, ECO:0000269 PubMed:7607641, ECO:0000269 PubMed:7711728, ECO:0000269 PubMed:8318557, ECO:0000269 PubMed:8432868, ECO:0000269 PubMed:8807342, ECO:0000269 PubMed:9007616, ECO:0000269 PubMed:9741700}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LCAT Gene

hypercholesterolemia,unesterified,characterized by corneal opacities,anemia,proteinuria with total deficiency of LCAT also fish eye disease with partial deficiency of LCAT,see also APOA1 (Norum disease),susceptibility gene to familial combined hyperlyemia and premature coronary artery disease

Relevant External Links for LCAT

Genetic Association Database (GAD)
LCAT
Human Genome Epidemiology (HuGE) Navigator
LCAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LCAT
genes like me logo Genes that share disorders with LCAT: view

Publications for LCAT Gene

  1. Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene. (PMID: 1859405) Maeda E. … Kasuga M. (Biochem. Biophys. Res. Commun. 1991) 3 4 23 67
  2. Plasma levels of lecithin:cholesterol acyltransferase and risk of future coronary artery disease in apparently healthy men and women: a prospective case-control analysis nested in the EPIC-Norfolk population study. (PMID: 19671930) Holleboom A.G. … Boekholdt S.M. (J. Lipid Res. 2010) 3 23
  3. High plasma lecithin:cholesterol acyltransferase activity does not predict low incidence of cardiovascular events: possible attenuation of cardioprotection associated with high HDL cholesterol. (PMID: 19698944) Dullaart R.P. … Sluiter W.J. (Atherosclerosis 2010) 3 23
  4. Plasma lecithin: cholesterol acyltransferase activity modifies the inverse relationship of C-reactive protein with HDL cholesterol in nondiabetic men. (PMID: 19800416) Dullaart R.P. … van Tol A. (Biochim. Biophys. Acta 2010) 3 23
  5. Functional LCAT is not required for macrophage cholesterol efflux to human serum. (PMID: 18922527) Calabresi L. … Franceschini G. (Atherosclerosis 2009) 3 23

Products for LCAT Gene

Sources for LCAT Gene

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