LCAT Gene
protein-coding GIFtS: 62
GCID: GC16M067973
|
|
lecithin-cholesterol acyltransferase
| |
Aliases
for LCAT gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Lecithin-Cholesterol Acyltransferase1 2 3 | | Phospholipid-Cholesterol Acyltransferase2 3 | | EC 2.3.1.433 8 | | Phosphatidylcholine-Sterol Acyltransferase2 |
Export aliases for LCAT gene to outside databasesPrevious GC identifers: GC16M058668 GC16M068351 GC16M067709 GC16M067750 GC16M066532 GC16M053847 |
Summaries
for LCAT gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for LCAT:
This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. Theesterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to causefish-eye disease as well as LCAT deficiency. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180Function: Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver andsecreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters andlysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester isthen transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Alsoproduced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteinssecreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and thecholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required forremodeling high-density lipoprotein particles into their spherical forms
Gene Wiki entry for LCAT (Lecithinâ€"cholesterol acyltransferase)
|
Genomic Views
for LCAT gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010498.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the LCAT gene promoter:
GR AP-2alpha isoform 3 GR-beta AP-2alpha isoform 2 COMP1 STAT3 AP-2alpha isoform 4 GR-alpha AP-2alpha AP-2alphaA
Other transcription factors
Search SABiosciences Chromatin IP Primers for LCAT
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LCAT |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q22.1 Ensembl cytogenetic band: 16q22.1 HGNC cytogenetic band: 16q22.1LCAT Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M067973: view genomic region
(about GC identifiers)
Start:
|
67,973,653 bp from pter |
End:
|
67,978,034 bp from pter |
Size:
|
4,382 bases |
Orientation:
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minus strand |
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Proteins
for LCAT gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180 (See
protein sequence)Recommended Name: Phosphatidylcholine-sterol acyltransferase precursor Size: 440 amino acids; 49578 Da
Subcellular location: Secreted. Note=Secreted into blood plasma. Produced in astrocytes and secreted into cerebralspinal fluid (CSF)
Miscellaneous: Levels of LCAT activity correlates inversely with leptin levels as well as with obesity for a wide rangeof BMI values
Secondary accessions: Q53XQ3Explore the universe of human proteins at neXtProt for LCAT: NX_P04180
Post-translational modifications:
O- and N-glycosylated. O-glycosylation on Thr-431 and Ser-433 consists of sialylated galactose beta1-->3N-acetylgalactosamine structures. N-glycosylated sites contain sialylated triantennary and/or biantennary complexstructures1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P04180
4/14 DME Specific Peptides for LCAT (P04180) (see all 14)
LCAT Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000220.1
ENSEMBL proteins: ENSP00000264005 ENSP00000463220 ENSP00000459014 ENSP00000464651 ENSP00000460653 ENSP00000458141 ENSP00000459291 ENSP00000463218 Reactome Protein details: P04180
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
LCAT for ontologies About GeneDecksing
LCAT Antibody Products:
Assay Products for LCAT: |
Protein
Domains /
Families
for LCAT gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
LCAT for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P04180ProtoNet protein and cluster: P04180 UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180Similarity: Belongs to the AB hydrolase superfamily. Lipase family |
Function
for LCAT gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180Function: Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver andsecreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters andlysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester isthen transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Alsoproduced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteinssecreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and thecholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required forremodeling high-density lipoprotein particles into their spherical formsCatalytic activity: Phosphatidylcholine + a sterol = 1-acylglycerophosphocholine + a sterol esterEnzyme regulation: APOA1 is the most potent activator in plasma. Also activated by APOE, APOC1 and APOA4Biophysicochemical properties: Kinetic parameters: KM=0.97 mM for LDL; KM=0.4 mM for HDL(2); KM=0.10 mM for HDL(3);Vmax=8.3 mmol/min/mg enzyme with LDL as substrate; Vmax=0.58 mmol/min/mg enzyme with HDL(2) as substrate; Vmax=2.0mmol/min/mg enzyme with HDL(3) as substrate; Note=Affinity for LDL is 2.3 to 4-fold lower than for HDL. Relativereactivities are 16% for HDL(3), 1.3% for HDL(2) and 6.5% for LDL; Genatlas biochemistry entry for LCAT:lecithin-cholesterol acyltransferase,47kDa,liver,plasma lipid transport
Enzyme Number (IUBMB): EC 2.3.1.431 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LCAT (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LCAT (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: LCAT (NM_000229) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LCAT | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LCAT |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCAT |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
LCAT for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for LCAT:
Animal Models:
Mouse knock-outs for LCAT: Lcattm1Nsa Lcattm1Hgc
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Lcat):
LCAT for phenotypes About GeneDecksing
|
Pathways & Interactions
for LCAT gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Lipoprotein metabolism | | | 2 | Statin Pathway, Pharmacodynamics | | | 3 | Metabolism | | | 4 | Glycerophospholipid biosynthesis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for LCAT
5 
Reactome Pathways for LCAT
1  PharmGKB Pathway for LCAT
1 
Kegg Pathway (Kegg details for LCAT):
LCAT for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LCAT
STRING Interaction
Network Preview (showing 5 interactants - click image to see 13)
5/13 Interacting proteins for LCAT (P041803 ENSP000002640054) via UniProtKB, MINT, STRING, and/or I2D (see all 13)About this table
Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table
LCAT for ontologies About GeneDecksing
|
Drugs & Compounds
for LCAT gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
LCAT for compounds About GeneDecksing
 Browse Tocris compounds for LCAT
10/1200 HMDB Compounds for LCAT (see all 1200) About this table
10/66 Novoseek chemical compound relationships for LCAT gene (see all 66) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cholesterol |
87.8 |
1012 |
8444318 (7), 7890624 (7), 19679306 (5), 9144096 (5) (see all 99) |
| cholesterol ester |
83.4 |
39 |
9627145 (3), 12023990 (1), 1420289 (1), 7548172 (1) (see all 32) |
| lysolecithin |
74.4 |
14 |
2406238 (2), 8376375 (1), 10487497 (1), 8084287 (1) (see all 10) |
| phosphatidylcholine |
73.9 |
157 |
9162746 (5), 9215538 (5), 10393333 (5), 10744775 (4) (see all 45) |
| lipid |
73.7 |
174 |
9507105 (3), 7751820 (3), 7701533 (3), 9088857 (3) (see all 99) |
| phospholipid |
72.8 |
71 |
15909677 (3), 8420935 (2), 10903483 (2), 8071605 (2) (see all 49) |
| p-opc |
70.6 |
27 |
8995259 (3), 9215538 (3), 9507105 (2), 15375182 (2) (see all 11) |
| lecithin |
69.3 |
33 |
7548172 (4), 2406238 (2), 2370048 (1), 2081483 (1) (see all 21) |
| dtnb |
68.8 |
26 |
10224164 (1), 11238523 (1), 11397717 (1), 11866429 (1) (see all 15) |
| pdpc |
67.3 |
2 |
1387413 (1), 9831630 (1) |
Search CenterWatch for drugs/clinical trials and news about LCAT
|
Transcripts
for LCAT gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for LCAT gene: NM_000229.1 Unigene Cluster for LCAT: Lecithin-cholesterol acyltransferase Hs.387239 [show with all ESTs]Unigene Representative Sequence: AK1262719 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000264005(uc002euy.1) ENST00000573538 ENST00000570369 ENST00000570980
ENST00000575467 ENST00000576450 ENST00000570396 ENST00000573846 ENST00000575277
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LCAT (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LCAT (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: LCAT (NM_000229) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LCAT | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LCAT |
Additional cDNA sequence: AK126271.1 BC014781.1 BT009748.1 M12625.1 M26268.1 X06537.1 11 DOTS entries: DT.446537 DT.101956881 DT.100755555 DT.75157243 DT.91727543 DT.75114409 DT.65285673 DT.95362288 DT.40122090 DT.97847637 DT.91648730 24/205 AceView cDNA sequences (see all 205): BU731894 BC014781 NM_000229 BU733031 CA454853 BC035480 BQ707084 BC021193 BF914319 BM921605 CA448074 BM830708 AA831103 BU617122 BM825709 F08392 BF914336 AF047338 BM932010 BX110232 BX336595 NM_005072 C01040 AA452982
GeneLoc Exon Structure
|
Expression
for LCAT gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| LCAT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCTTCAGCA
About this image
See LCAT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LCAT
SOURCE GeneReport for Unigene cluster: Hs.387239
UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180Tissue specificity: Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid.Expressed in Hep-G2 cell line
SABiosciences Expression via Pathway-Focused PCR Array including LCAT: | Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LCAT
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LCAT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LCAT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LCAT | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCAT |
Orthologs
for LCAT gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for LCAT gene from 8/24 species (see all 24) About this table
ENSEMBL Gene Tree for LCAT (if available)
TreeFam Gene Tree for LCAT (if available) |
Paralogs
for LCAT gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for LCAT gene
- PLA2G152
1 SIMAP similar gene for LCAT using alignment to 9 protein entries: LCAT_HUMAN (see all proteins):PLA2G15
LCAT for paralogs About GeneDecksing
|
Genomic Variants
for LCAT gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for LCAT (67973653 - 67978034 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LCAT: --
Human Gene Mutation Database (HGMD): LCAT
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for LCAT gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
LCAT for disorders About GeneDecksing
OMIM gene information: 606967
OMIM disorders: 245900 136120
UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180
Defects in LCAT are the cause of lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]; alsocalled Norum disease. LCATD is a disorder of lipoprotein metabolism characterized by inadequate esterification ofplasmatic cholesterol. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCATdeficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterificationanomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffusecorneal opacities, target cell hemolytic anemia, and proteinuria with renal failure Defects in LCAT are a cause of fish-eye disease (FED) [MIM:136120]; also known as dyslipoproteinemic cornealdystrophy or alpha-LCAT deficiency. FED is due to a partial LCAT deficiency that affects only alpha-LCAT activity. Itis characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea('fish-eye')
20/99  diseases for LCAT (see all 99): About MalaCardsfish-eye disease cholesterol eye disease defective apolipoprotein b-100
north american indian childhood cirrhosis sea-blue histiocytosis niemann-pick disease arcus senilis
lipoprotein lipase deficiency benign recurrent intrahepatic cholestasis cetp deficiency patent ductus arteriosus
lipoprotein glomerulopathy alcohol abuse myocardial infarction growth hormone deficiency
acute myocardial infarction familial combined hyperlipidemia corneal dystrophy hyperalphalipoproteinemia
10/80 Novoseek disease relationships for LCAT gene (see all 80) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lcat deficiency |
98.4 |
370 |
12886512 (5), 11278414 (5), 7746888 (4), 15997755 (4) (see all 99) |
| fish-eye disease |
94.9 |
37 |
8445345 (4), 8282802 (3), 10450185 (2), 19687369 (2) (see all 17) |
| lecithin cholesterol acyltransferase deficiency |
94.3 |
7 |
9180249 (1), 9394340 (1), 7605383 (1), 11095479 (1) (see all 6) |
| hypoalphalipoproteinemia |
85.3 |
12 |
19687369 (2), 16115486 (1), 15767853 (1), 15382513 (1) (see all 8) |
| tangier disease |
82.1 |
11 |
16115486 (1), 1925941 (1), 12447720 (1), 8221181 (1) (see all 10) |
| alphalipoproteinemia |
78.7 |
1 |
15382513 (1) |
| hyperalphalipoproteinemia |
78.1 |
5 |
7744879 (2), 8462178 (1), 9555865 (1) |
| atherosclerosis |
69.6 |
86 |
19306528 (6), 10669643 (3), 9648340 (3), 8876155 (3) (see all 44) |
| lipoprotein disorder |
66 |
1 |
11122693 (1) |
| dyslipoproteinemia |
65.4 |
1 |
1468226 (1) |
Genatlas disease: LCAT hypercholesterolemia,unesterified,characterized by corneal opacities,anemia,proteinuria with total deficiency of LCATalso fish eye disease with partial deficiency of LCAT,see also APOA1 (Norum disease),susceptibility gene to familialcombined hyperlyemia and premature coronary artery disease
Genetic Association Database (GAD): LCAT
Human Genome Epidemiology (HuGE) Navigator: LCAT (40 documents)
Export disorders for LCAT gene to outside databases
|
Publications
for LCAT gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for LCAT gene, integrated from 9 sources (see all 733):
(articles sorted by number of sources associating them with LCAT) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene. (PubMed id 1859405)1, 2, 9 Maeda E....Kasuga M. (1991)
- Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes. (PubMed id 16115486)1, 4, 9 Pisciotta L....Bertolini S. (2005)
- Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family. (PubMed id 16051254)1, 2, 9 Idzior-Walus B....Naruszewicz M. (2006)
- The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. (PubMed id 15994445)1, 2, 9 Calabresi L.... Franceschini G. (2005)
- Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. (PubMed id 8432868)1, 2, 9 Funke H....Assmann G. (1993)
- Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin- cholesterol acyltransferase (Thr123-->Ile) and lecithin-cholesterol acyltransferase (Thr347-->Met). (PubMed id 1737840)1, 2, 9 Klein H.-G....Brewer H.B. Jr. (1992)
- An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. (PubMed id 1571050)1, 2, 9 Skretting G. and Prydz H. (1992)
- Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. (PubMed id 16216249)1, 2, 9 Hoerl G.... Steyrer E. (2006)
- Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease. (PubMed id 15110745)1, 4, 9 Zhang K....Xiao C. (2004)
- A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. (PubMed id 12957688)1, 2, 9 Nanjee M.N.... Miller N.E. (2003)
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External Searches for LCAT gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing LCAT gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing LCAT gene
(According to HUGE)
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Specialized Databases showing LCAT gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for LCAT | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for LCAT | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LCAT | | Wikipedia | http://en.wikipedia.org/wiki/Lecithin-cholesterol_acyltransferase |
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| Patent Information for LCAT gene:
Search GeneIP for patents involving LCAT
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for LCAT gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for LCAT | | OriGene shRNA RFP for LCAT | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LCAT | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LCAT | | | OriGene Protein Over-expression Lysate for LCAT | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for LCAT | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LCAT | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LCAT | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for LCAT | | OriGene Custom Protein Services for LCAT | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LCAT | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LCAT | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LCAT | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LCAT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LCAT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LCAT |
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| | | | Search Tocris compounds for LCAT |
| |  |  |  |  | | | | | | Recombinant Protein for LCAT |
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 | | | LCAT Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCAT |
|  |  |  | | | | ThermoFisher Antibody for LCAT |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LCAT |
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