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LCAT Gene

protein-coding   GIFtS: 65
GCID: GC16M067973

Lecithin-Cholesterol Acyltransferase

  See LCAT-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 complete lcat deficiency, and fish-eye disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 Chromatin IP Primers for LCAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LCAT_HUMAN, P04180 (See protein sequence)
Recommended Name: Phosphatidylcholine-sterol acyltransferase precursor  
Size: 440 amino acids; 49578 Da
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: 

  • 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 structures1
  • Glycosylation2 at Asn44, Asn108, Asn296, Asn408, Thr431, Ser433
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LCAT (P04180) (see all 14)
     HLLYFLL  LDLNMFL  HLNMVFS  DLHFEEGW 


    See LCAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000220.1  
    ENSEMBL proteins: 
     ENSP00000264005   ENSP00000463220   ENSP00000459014   ENSP00000464651   ENSP00000460653  
     ENSP00000458141   ENSP00000459291  
    Reactome Protein details: P04180

    LCAT Human Recombinant Protein Products:

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    Novus Biologicals LCAT Proteins
    Novus Biologicals LCAT Lysates
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    ProSpec Recombinant Protein for LCAT
    Cloud-Clone Corp. Proteins for LCAT

     
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    Search eBioscience for ELISAs for LCAT 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with LCAT           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with LCAT           About GenesLikeMe


    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 

    Find genes that share phenotypes with LCAT           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LCAT
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LCAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LCAT

    miRNA
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    miRTarBase miRNAs that target LCAT:
    hsa-mir-26b-5p (MIRT029711)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LCAT

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    GenScript: all cDNA clones in your preferred vector: LCAT (NM_000229)
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LCAT_HUMAN, P04180: Secreted. Note=Secreted into blood plasma. Produced in astrocytes and secreted into cerebral
    spinal fluid (CSF)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with LCAT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LCAT About    
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Lipoprotein metabolism
    Lipoprotein metabolism0.59
    HDL-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Glycerophospholipid biosynthesis
    Glycerophospholipid metabolism0.62


    Find genes that share SuperPaths with LCAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LCAT
        Statin Pathway


    1 Reactome Pathway for LCAT
        HDL-mediated lipid transport

    1 PharmGKB Pathway for LCAT
        Statin Pathway, Pharmacodynamics

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

        Pathway & Disease-focused RT2 Profiler PCR Array including LCAT: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LCAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LCAT (P041803 ENSP000002640054) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    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): Selected biological process terms (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

    Find genes that share ontologies with LCAT           About GenesLikeMe



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

    Browse Tocris compounds for LCAT

    Selected 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--

    Selected 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)



    Find genes that share compounds with LCAT           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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      QuantiFast Probe-based Assays in human, mouse, rat LCAT
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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 

    Selected AceView cDNA sequences (see all 205):

    BU617122 AW167714 BI820410 C01040 BI760831 BX110232 BQ082860 CD359822 
    BX109752 H41220 NM_000229 BG286737 AF054505 BQ068133 AU143072 BM768946 
    CA421717 BM825709 CA440867 BM830708 AF047338 AI125379 BM692527 CF272417 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    LCAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LCAT Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including LCAT: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for LCAT
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    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LCAT gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lcat1 , 5 lecithin cholesterol acyltransferase1, 5 85.31(n)1
    86.31(a)1
      8 (53.06 cM)5
    168161  NM_008490.21  NP_032516.21 
     1059395515 
    chicken
    (Gallus gallus)
    Aves LCAT1 lecithin-cholesterol acyltransferase 73.07(n)
    73.57(a)
      396136  XM_414027.4  XP_414027.4 
    lizard
    (Anolis carolinensis)
    Reptilia LCAT6
    lecithin-cholesterol acyltransferase
    69(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 63.91(n)
    62.16(a)
      793137  XM_001332792.4  XP_001332828.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG188586
    CG316836
    --
    33(a)
    33(a)
    many ↔ many
    many ↔ many
    2L(20456847-20459075)
    2L(20447734-20449964)
    worm
    (Caenorhabditis elegans)
    Secernentea M05B5.46
    Protein M05B5.4 (M05B5.4) mRNA, complete cds
    36(a)
    1 → many
    I(7188495-7190562) WBGene00010872


    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)
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    Paralogs for LCAT gene
    PLA2G152  
    1 SIMAP similar gene for LCAT using alignment to 8 protein entries:     LCAT_HUMAN (see all proteins):
    PLA2G15

    Find genes that share paralogs with LCAT           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LCAT (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
    ----------
    rs289408881,2,,4
    CLecithin-cholesterol acyltransferase deficiency (LCATD)4 pathogenic168980525(-) GCCCAC/TGCCCC 2 T M mis10--------
    rs289408871,2,,4
    CLecithin-cholesterol acyltransferase deficiency (LCATD)4 pathogenic168983051(-) ACGTGC/TGGGAC 2 R W mis10--------
    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--------

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for LCAT (see all 22):    
    About MalaCards
    complete lcat deficiency    fish-eye disease    norum disease    lipoprotein glomerulopathy
    kwashiorkor    sea-blue histiocytosis    eye disease    mucopolysaccharidosis i
    defective apolipoprotein b-100    alagille syndrome    hypoalphalipoproteinemia    benign recurrent intrahepatic cholestasis
    familial hdl deficiency    hypobetalipoproteinemia    hyperalphalipoproteinemia    tangier disease
    splenomegaly    familial hyperlipidemia    corneal disease    amyloidosis, secondary

    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

    Find genes that share disorders with LCAT           About GenesLikeMe

    Selected 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)
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    PubMed articles for LCAT gene, integrated from 10 sources (see all 740):
    (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. (Biochem. Biophys. Res. Commun. 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. (Atherosclerosis 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. (Atherosclerosis 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. (Arterioscler. Thromb. Vasc. Biol. 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. (J. Clin. Invest. 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. (J. Clin. Invest. 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. (Biochem. Biophys. Res. Commun. 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. (Atherosclerosis 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. (Biochem. Biophys. Res. Commun. 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. (Atherosclerosis 2003)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 3931 HGNC: 6522 AceView: LCATandSLC12A4 Ensembl:ENSG00000213398 euGenes: HUgn3931
    ECgene: LCAT Kegg: 3931 H-InvDB: LCAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=LCAT[genesymbol]
    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.)
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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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