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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LCAT Gene

protein-coding   GIFtS: 64
GCID: GC16M067973

Lecithin-Cholesterol Acyltransferase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Lecithin-Cholesterol Acyltransferase1 2 3
Phospholipid-Cholesterol Acyltransferase2 3
EC 2.3.1.433 8
Phosphatidylcholine-Sterol Acyltransferase2

External Ids:    HGNC: 65221   Entrez Gene: 39312   Ensembl: ENSG000002133987   OMIM: 6069675   UniProtKB: P041803   

Export aliases for LCAT gene to outside databases

Previous GC identifers: GC16M058668 GC16M068351 GC16M067709 GC16M067750 GC16M066532 GC16M053847


(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 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 eye disease, and among its related super-pathways are Statin Pathway and Lipoprotein metabolism. GO annotations related to this gene include phosphatidylcholine-sterol O-acyltransferase activity and apolipoprotein A-I binding. An important paralog of this gene is PLA2G15.

UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180
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). 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. 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

Gene Wiki entry for LCAT (Lecithinâ€"cholesterol acyltransferase) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
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

SwitchGear Promoter luciferase reporter plasmids (see all 2): LCAT promoter sequence
   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: 16q22.1

LCAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LCAT gene location

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:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 cerebral
spinal fluid (CSF)
Miscellaneous: Levels of LCAT activity correlates inversely with leptin levels as well as with obesity for a wide
range of BMI values
Secondary accessions: Q53XQ3

Explore the universe of human proteins at neXtProt for LCAT: NX_P04180

Explore proteomics data for LCAT at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04180

  • 4/14 DME Specific Peptides for LCAT (P04180) (see all 14)
     HLLYFLL  LDLNMFL  HLNMVFS  DLHFEEGW 

    LCAT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LCAT Protein Expression
    REFSEQ proteins: NP_000220.1  
    ENSEMBL proteins: 
     ENSP00000264005   ENSP00000463220   ENSP00000459014   ENSP00000464651   ENSP00000460653  
     ENSP00000458141   ENSP00000459291  
    Reactome Protein details: P04180
    Human Recombinant Protein Products for LCAT: 
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    Cloud-Clone Corp. Proteins for LCAT 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA10559507
    GO:0034364high-density lipoprotein particle IDA3104518

    LCAT for ontologies           About GeneDecksing



    LCAT Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003386 LACT/PDAT_acylTrfase

    Graphical View of Domain Structure for InterPro Entry P04180

    ProtoNet protein and cluster: P04180

    UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180
    Similarity: Belongs to the AB hydrolase superfamily. Lipase family


    LCAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LCAT_HUMAN, P04180
    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). 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. 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
    Catalytic activity: Phosphatidylcholine + a sterol = 1-acylglycerophosphocholine + a sterol ester
    Enzyme regulation: APOA1 is the most potent activator in plasma. Also activated by APOE, APOC1 and APOA4
    Biophysicochemical 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=2.0 mmol/min/mg enzyme with HDL(3) as substrate; 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;

         Genatlas biochemistry entry for LCAT:
    lecithin-cholesterol acyltransferase,47kDa,liver,plasma lipid transport

         Enzyme Number (IUBMB): EC 2.3.1.431 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004607phosphatidylcholine-sterol O-acyltransferase activity NAS11966470
    GO:0005515protein binding IPI11435418
    GO:0008374O-acyltransferase activity ----
    GO:0034186apolipoprotein A-I binding IPI1587806
         
    LCAT for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for LCAT:
     Decreased cilium length  Decreased cilium length after   Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Lcat):
     cardiovascular system  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  liver/biliary system 
     renal/urinary system  vision/eye 

    LCAT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LCAT: Lcattm1Nsa Lcattm1Hgc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LCAT 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LCAT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Statin Pathway, Pharmacodynamics
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Lipoprotein metabolism
    Lipoprotein metabolism0.57
    Lipid digestion, mobilization, and transport0.56
    HDL-mediated lipid transport0.57
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Glycerophospholipid biosynthesis
    Glycerophospholipid metabolism0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LCAT
        Statin Pathway


    5        Reactome Pathways for LCAT
        Lipid digestion, mobilization, and transport
    Metabolism
    Lipoprotein metabolism
    HDL-mediated lipid transport
    Metabolism of lipids and lipoproteins

    1 PharmGKB Pathway for LCAT
        Statin Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for LCAT):
        Glycerophospholipid metabolism


    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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOA1P026473, ENSP000002368504I2D: score=2 STRING: ENSP00000236850
    A2MP010233, ENSP000003239294I2D: score=2 STRING: ENSP00000323929
    ALBENSP000002958974STRING: ENSP00000295897
    CHPT1ENSP000002292664STRING: ENSP00000229266
    LYPLA1ENSP000003200434STRING: ENSP00000320043
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006644phospholipid metabolic process IDA4335615
    GO:0006656phosphatidylcholine biosynthetic process IDA11966470
    GO:0008203cholesterol metabolic process IDA10559507
    GO:0030301cholesterol transport IDA10559507

    LCAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LCAT

    10/1200 HMDB Compounds for LCAT (see all 1200)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    CE(10:0)Decanoic acid cholesteryl ester (see all 18)1183-04-6--
    CE(12:0)cholest-5-en-3beta-yl dodecanoate (see all 19)1908-11-8--
    CE(14:0)14:0 Cholesterol ester (see all 24)1989-52-2--
    CE(14:1(9Z))CE(14:1/0:0) (see all 22)----
    CE(16:0)Cholest-5-ene-3-beta-yl palmitate (see all 23)601-34-3--
    CE(16:1(9Z))(Z)-Cholesterol 9-hexadecenoate (see all 33)16711-66-3--
    CE(18:0)cholesterol 1-octadecanoate (see all 14)----
    CE(18:1(11Z))cholesterol 1-(11Z-octadecenoate) (see all 25)----
    CE(18:1(9Z))3beta-Hydroxy-5-cholestene 3-oleate (see all 35)303-43-5--

    10/66 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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: AK126271
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264005(uc002euy.1) ENST00000573538 ENST00000570369 ENST00000570980
    ENST00000575467 ENST00000576450 ENST00000570396 ENST00000573846 ENST00000575277

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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):

    R53010 H41220 CA395804 BQ707084 AI361457 M12625 AF054506 NM_000229 
    BM768946 F08392 CA440867 BX110232 BM830708 BG286737 AA452982 CO248726 
    CA421717 BC035480 AF047338 BQ082860 BM932010 CD359822 BM563071 AW167714 

    GeneLoc Exon Structure


    (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 <intensity>2/3
    CGAP TAG: GTCTTCAGCA
    LCAT Expression
    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, P04180
    Tissue 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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCAT

    (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 animals and fungi.

    Orthologs for LCAT gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lcat1 , 5 lecithin cholesterol acyltransferase1, 5 85.24(n)1
    86.3(a)1
      8 (53.06 cM)5
    168161  NM_008490.21  NP_032516.21 
     1059395515 
    chicken
    (Gallus gallus)
    Aves LCAT1 lecithin-cholesterol acyltransferase 71.43(n)
    70.51(a)
      396136  XM_414027.3  XP_414027.3 
    lizard
    (Anolis carolinensis)
    Reptilia LCAT6
    Uncharacterized protein
    68(a)
    1 ↔ 1
    GL344674.1(46-10798)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.211182 Xenopus laevis, Similar to lecithin-cholesterol acyltransferase, more 74.05(n)    BC042357.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7931371 phosphatidylcholine-sterol acyltransferase-like 62.83(n)
    60.91(a)
      793137  XM_001332792.3  XP_001332828.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG316836
    CG188586
    --
    30(a)
    30(a)
    many ↔ many
    many ↔ many
    2L(20447734-20449964)
    2L(20456847-20459075)
    worm
    (Caenorhabditis elegans)
    Secernentea M05B5.46
    Protein M05B5.4
    35(a)
    1 → many
    I(7188495-7190562)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LRO1(YNR008W)4 Acyltransferase that catalyzes diacylglycerol esterification; more   --   14(640396-642381) 855742  NP_014405.1 


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

    (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 8 protein entries:     LCAT_HUMAN (see all proteins):
    PLA2G15

    LCAT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/170 SNPs in LCAT are shown (see all 170)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0390334
    Lecithin-cholesterol acyltransferase deficiency (LCATD)4--see VAR_0390332 T A mis40--------
    VAR_0390284
    Lecithin-cholesterol acyltransferase deficiency (LCATD)4--see VAR_0390282 R C mis40--------
    VAR_0668624
    Fish-eye disease (FED)4--see VAR_0668622 W S mis40--------
    VAR_0668674
    Fish-eye disease (FED)4--see VAR_0668672 L F mis40--------
    VAR_0042674
    Fish-eye disease (FED)4--see VAR_0042672 T M mis40--------
    VAR_0042654
    Lecithin-cholesterol acyltransferase deficiency (LCATD)4--see VAR_0042652 M I mis40--------
    VAR_0042534
    Lecithin-cholesterol acyltransferase deficiency (LCATD)4--see VAR_0042532 G S mis40--------
    VAR_0042584
    Lecithin-cholesterol acyltransferase deficiency (LCATD)4--see VAR_0042582 R H mis40--------
    VAR_0042564
    Fish-eye disease (FED)4--see VAR_0042562 T I mis40--------
    VAR_0042524
    Fish-eye disease (FED)4--see VAR_0042522 P L mis40--------

    HapMap Linkage Disequilibrium report for LCAT (67973653 - 67978034 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for LCAT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv524363CNV Loss19592680
    nsv522852CNV Gain19592680


    Human Gene Mutation Database (HGMD): LCAT
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing LCAT
    DNA2.0 Custom Variant and Variant Library Synthesis for LCAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606967   
    OMIM disorders: 245900  136120  
    UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 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').
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/92 diseases for LCAT (see all 92):    About MalaCards
    fish-eye disease    eye disease    familial hdl deficiency    kwashiorkor
    algoneurodystrophy    norum disease    cetp deficiency    lipoprotein glomerulopathy
    scheie syndrome    sea-blue histiocytosis    mucopolysaccharidosis i    hypoalphalipoproteinemias
    splenomegaly    alagille syndrome    hepatic lipase deficiency    defective apolipoprotein b-100
    benign recurrent intrahepatic cholestasis    arcus senilis    aortic atherosclerosis    hypobetalipoproteinemia

    9 diseases from the University of Copenhagen DISEASES database for LCAT:
    Norum disease     Tangier disease     Atherosclerosis     Kidney disease
    Coronary heart disease     Abetalipoproteinemia     Familial hyperlipidemia     Liver disease
    Cholestasis

    LCAT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/80 Novoseek inferred 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
    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

    Genetic Association Database (GAD): LCAT
    Human Genome Epidemiology (HuGE) Navigator: LCAT (40 documents)

    Export disorders for LCAT gene to outside databases

    (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 737):
    (articles sorted by number of sources associating them with LCAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3931 HGNC: 6522 AceView: LCATandSLC12A4 Ensembl:ENSG00000213398 euGenes: HUgn3931
    ECgene: LCAT Kegg: 3931 H-InvDB: LCAT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LCAT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LCAT Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LCAT
    Wikipedia http://en.wikipedia.org/wiki/Lecithin-cholesterol_acyltransferase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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