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] See more...

Aliases for LCAT Gene

Aliases for LCAT Gene

  • Lecithin-Cholesterol Acyltransferase 2 3 4 5
  • 1-Alkyl-2-Acetylglycerophosphocholine Esterase 3 4
  • Phosphatidylcholine--Sterol O-Acyltransferase 2 3
  • Phosphatidylcholine-Sterol Acyltransferase 3 4
  • Platelet-Activating Factor Acetylhydrolase 3 4
  • Phospholipid-Cholesterol Acyltransferase 3 4
  • PAF Acetylhydrolase 3 4
  • EC 2.3.1.43 4 50
  • Testicular Secretory Protein Li 24 3
  • EC 3.1.1.47 4
  • LCAT 5

External Ids for LCAT Gene

Previous GeneCards Identifiers for LCAT Gene

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

Summaries for LCAT Gene

Entrez Gene Summary for LCAT Gene

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

GeneCards Summary for LCAT Gene

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

UniProtKB/Swiss-Prot Summary for LCAT Gene

  • Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107). Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751). Catalyzes the hydrolysis of 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (platelet-activating factor or PAF) to 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) (PubMed:8016111). Also catalyzes the transfer of the acetate group from PAF to 1-hexadecanoyl-sn-glycero-3-phosphocholine forming lyso-PAF (PubMed:8016111). Catalyzes the esterification of (24S)-hydroxycholesterol (24(S)OH-C), also known as cerebrosterol to produce 24(S)OH-C monoesters (PubMed:24620755).

Gene Wiki entry for LCAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LCAT Gene

Genomics for LCAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LCAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LCAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LCAT

Top Transcription factor binding sites by QIAGEN in the LCAT gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • COMP1
  • GR
  • GR-alpha
  • GR-beta
  • STAT3

Genomic Locations for LCAT Gene

Latest Assembly
chr16:67,939,750-67,944,131
(GRCh38/hg38)
Size:
4,382 bases
Orientation:
Minus strand

Previous Assembly
chr16:67,973,653-67,978,023
(GRCh37/hg19 by Entrez Gene)
Size:
4,371 bases
Orientation:
Minus strand

chr16:67,973,653-67,978,034
(GRCh37/hg19 by Ensembl)
Size:
4,382 bases
Orientation:
Minus strand

Genomic View for LCAT Gene

Genes around LCAT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LCAT Gene

Proteins for LCAT Gene

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

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

    Protein attributes for LCAT Gene

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

    Three dimensional structures from OCA and Proteopedia for LCAT Gene

neXtProt entry for LCAT Gene

Selected DME Specific Peptides for LCAT Gene

P04180:
  • KLAGYLHTLVQNLVNN
  • QGIPIMSSIKL
  • KLAGLVEEM
  • LEAKLDKP
  • HLLYFLL
  • FWLLNVLFPPHTTPKAELSNHTRPVILVPGC
  • SLGAPWGG
  • YEDGDDTV
  • HLNMVFS
  • VPGFGKTYSVEYLD
  • LDLNMFL
  • DLHFEEGW
  • EEQRITTTSPWM
  • WPEDHVFISTP

Post-translational modifications for LCAT Gene

  • O- and N-glycosylated. O-glycosylation on Thr-431 and Ser-433 consists of sialylated galactose beta 1-->3N-acetylgalactosamine structures. N-glycosylated sites contain sialylated triantennary and/or biantennary complex structures.
  • Glycosylation at Asn44, Asn108, Asn296, Asn408, Thr431, and Ser433
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LCAT_HUMAN (495)

Other Protein References for LCAT Gene

Protein products for research

  • Abcam proteins for LCAT

Domains & Families for LCAT Gene

Gene Families for LCAT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LCAT Gene

Suggested Antigen Peptide Sequences for LCAT Gene

GenScript: Design optimal peptide antigens:
  • Phospholipid-cholesterol acyltransferase (LCAT_HUMAN)
  • Lecithin-cholesterol acyltransferase (Q9Y5N3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04180

UniProtKB/Swiss-Prot:

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

Function for LCAT Gene

Molecular function for LCAT Gene

UniProtKB/Swiss-Prot Function:
Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107). Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751). Catalyzes the hydrolysis of 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (platelet-activating factor or PAF) to 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) (PubMed:8016111). Also catalyzes the transfer of the acetate group from PAF to 1-hexadecanoyl-sn-glycero-3-phosphocholine forming lyso-PAF (PubMed:8016111). Catalyzes the esterification of (24S)-hydroxycholesterol (24(S)OH-C), also known as cerebrosterol to produce 24(S)OH-C monoesters (PubMed:24620755).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + a sterol = a 1-acyl-sn-glycero-3-phosphocholine + a sterol ester; Xref=Rhea:RHEA:21204, ChEBI:CHEBI:15889, ChEBI:CHEBI:35915, ChEBI:CHEBI:57643, ChEBI:CHEBI:58168; EC=2.3.1.43; Evidence={ECO:0000255|PROSITE-ProRule:PRU10037, ECO:0000269|PubMed:10222237, ECO:0000269|PubMed:10329423, ECO:0000269|PubMed:14636062, ECO:0000269|PubMed:19065001, ECO:0000269|PubMed:25727495, ECO:0000269|PubMed:26195816, ECO:0000269|PubMed:3458198, ECO:0000269|PubMed:8820107};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+); Xref=Rhea:RHEA:17777, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:30909, ChEBI:CHEBI:36707; EC=3.1.1.47; Evidence={ECO:0000269|PubMed:8016111};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(24S)-hydroxycholesterol + 1-hexadecanoyl-2-acyl-sn-glycero-3-phosphocholine = (24S)-24-hydroxycholesterol ester + 1-hexadecanoyl-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:43216, ChEBI:CHEBI:34310, ChEBI:CHEBI:72998, ChEBI:CHEBI:77369, ChEBI:CHEBI:82869; Evidence={ECO:0000269|PubMed:24620755};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(24S)-hydroxycholesterol + 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine = (24S)-hydroxycholesterol 3-linoleoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:43224, ChEBI:CHEBI:34310, ChEBI:CHEBI:72998, ChEBI:CHEBI:73002, ChEBI:CHEBI:82875; Evidence={ECO:0000269|PubMed:24620755};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (5Z,8Z,11Z,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:53448, ChEBI:CHEBI:16113, ChEBI:CHEBI:72998, ChEBI:CHEBI:73003, ChEBI:CHEBI:82751; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (9Z-octadecenoate); Xref=Rhea:RHEA:53456, ChEBI:CHEBI:16113, ChEBI:CHEBI:46898, ChEBI:CHEBI:72998, ChEBI:CHEBI:73001; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(8Z,11Z,14Z-eicosatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (8Z,11Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:53464, ChEBI:CHEBI:16113, ChEBI:CHEBI:72998, ChEBI:CHEBI:84346, ChEBI:CHEBI:86121; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z-eicosatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (5Z,8Z,11Z)-eicosatrienoate; Xref=Rhea:RHEA:53460, ChEBI:CHEBI:16113, ChEBI:CHEBI:72998, ChEBI:CHEBI:86119, ChEBI:CHEBI:88752; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (5Z,8Z,11Z,14Z,17Z-eicosapentaenoate); Xref=Rhea:RHEA:53468, ChEBI:CHEBI:16113, ChEBI:CHEBI:72998, ChEBI:CHEBI:84969, ChEBI:CHEBI:86137; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (9Z,12Z)-octadecadienoate; Xref=Rhea:RHEA:53472, ChEBI:CHEBI:16113, ChEBI:CHEBI:41509, ChEBI:CHEBI:72998, ChEBI:CHEBI:73002; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(6Z,9Z,12Z-octadecatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (6Z,9Z,12Z)-octadecatrienoate; Xref=Rhea:RHEA:53476, ChEBI:CHEBI:16113, ChEBI:CHEBI:72998, ChEBI:CHEBI:84786, ChEBI:CHEBI:88756; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(11Z,14Z,17Z-eicosatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (11Z,14Z,17Z)-eicosatrienoate; Xref=Rhea:RHEA:53516, ChEBI:CHEBI:16113, ChEBI:CHEBI:72998, ChEBI:CHEBI:137411, ChEBI:CHEBI:137412; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(9Z,12Z,15Z-octadecatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (9Z,12Z,15Z)-octadecatrienoate; Xref=Rhea:RHEA:53520, ChEBI:CHEBI:16113, ChEBI:CHEBI:72998, ChEBI:CHEBI:84341, ChEBI:CHEBI:84789; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + H2O = (9Z,12Z)-octadecadienoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:40811, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:72998, ChEBI:CHEBI:73002; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:40427, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:72998, ChEBI:CHEBI:73003; Evidence={ECO:0000269|PubMed:14636062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine = 1-hexadecanoyl-2-acetyl-sn-glycero-3-phosphocholine + 1-O-alkyl-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:53636, ChEBI:CHEBI:30909, ChEBI:CHEBI:36707, ChEBI:CHEBI:72998, ChEBI:CHEBI:75219; Evidence={ECO:0000269|PubMed:8016111};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.97 mM for LDL {ECO:0000269|PubMed:10329423}; KM=0.4 mM for HDL(2) {ECO:0000269|PubMed:10329423}; KM=0.10 mM for HDL(3) {ECO:0000269|PubMed:10329423}; KM=12.8 uM for 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine {ECO:0000269|PubMed:8016111}; KM=125.5 uM for (24S)-hydroxycholesterol (in the presence of APOA1) {ECO:0000269|PubMed:24620755}; KM=417.3 uM for (24S)-hydroxycholesterol (in the presence of APOE) {ECO:0000269|PubMed:24620755}; Vmax=8.3 mmol/min/mg enzyme with LDL as substrate {ECO:0000269|PubMed:10329423}; Vmax=0.58 mmol/min/mg enzyme with HDL(2) as substrate {ECO:0000269|PubMed:10329423}; Vmax=2.0 mmol/min/mg enzyme with HDL(3) as substrate {ECO:0000269|PubMed:10329423}; Vmax=0.2 umol/h/mg enzyme with 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine as substrate {ECO:0000269|PubMed:8016111}; Vmax=12 umol/h/mg enzyme with cholesterol as substrate {ECO:0000269|PubMed:8016111}; Note=Affinity for LDL is 2.3 to 4-fold lower than for HDL. Relative reactivities are 16% for HDL(3), 1.3% for HDL(2) and 6.5% for LDL.;
UniProtKB/Swiss-Prot EnzymeRegulation:
APOA1 is the most potent activator in plasma (PubMed:19065001, PubMed:8016111). Also activated by APOE, APOC1 and APOA4 (PubMed:19065001, PubMed:8016111). Inhibited by haptoglobin and 5,5'-dithiobis-(2-nitrobenzoic acid) (DTNB) (PubMed:8016111, PubMed:24620755).
GENATLAS Biochemistry:
lecithin-cholesterol acyltransferase,47kDa,liver,plasma lipid transport

Enzyme Numbers (IUBMB) for LCAT Gene

Phenotypes From GWAS Catalog for LCAT Gene

Gene Ontology (GO) - Molecular Function for LCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA,IDA 8016111
GO:0004607 phosphatidylcholine-sterol O-acyltransferase activity TAS --
GO:0004806 triglyceride lipase activity IBA 21873635
GO:0005515 protein binding IPI 1587806
GO:0008374 O-acyltransferase activity IEA --
genes like me logo Genes that share ontologies with LCAT: view
genes like me logo Genes that share phenotypes with LCAT: view

Human Phenotype Ontology for LCAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LCAT Gene

MGI Knock Outs for LCAT:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCAT

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

Localization for LCAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for LCAT Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LCAT gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
mitochondrion 2
peroxisome 2
cytosol 2
lysosome 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 3458198
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034364 high-density lipoprotein particle IDA 3104518
genes like me logo Genes that share ontologies with LCAT: view

Pathways & Interactions for LCAT Gene

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

SIGNOR curated interactions for LCAT Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA,IBA 21873635
GO:0006644 phospholipid metabolic process IDA 4335615
GO:0006656 phosphatidylcholine biosynthetic process IDA,IMP 12354767
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA,IDA 4335615
genes like me logo Genes that share ontologies with LCAT: view

Drugs & Compounds for LCAT Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin D3 Approved Nutra Fat-soluble secosteroids 1159,1159
cholesterol Approved, Investigational Pharma 0
Lecithin Experimental Pharma 112
CE(18:2(9Z,12Z)) Experimental Pharma 0
L-Dilinoleoyllecithin Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sterol
Beta-Cortolone
  • 1-Palmityl-2-palmitoleoyl-sn-glycero-3-phosphocholine
  • Gpcho(16:0/16:1)
  • Gpcho(16:0/16:1n7)
  • Gpcho(16:0/16:1W7)
  • Gpcho(32:1)
CE(10:0)
  • 3b-(Decanoyloxy)-5-cholestene
  • 5-Cholesten-3b-ol caprate
  • Cholest-5-en-3b-ol caprate
  • Cholesterol 3-decanoate
  • Cholesterol 3-decanoic acid
1183-04-6
CE(12:0)
  • (3beta)-Cholest-5-en-3-ol dodecanoate
  • (3beta)-Cholest-5-en-3-ol dodecanoic acid
  • 12:0 Cholesterol ester
  • Cholest-5-en-3-beta-yl laurate
  • Cholest-5-en-3-yl laurate
1908-11-8
CE(14:0)
  • 1-Myristoyl-cholesterol
  • CE(14:0/0:0)
  • Cholesterol 1-tetradecanoic acid
  • Cholesterol ester(14:0)
  • Cholesterol ester(14:0/0:0)
1989-52-2
genes like me logo Genes that share compounds with LCAT: view

Transcripts for LCAT Gene

mRNA/cDNA for LCAT Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCAT

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

No ASD Table

Relevant External Links for LCAT Gene

GeneLoc Exon Structure for
LCAT

Expression for LCAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LCAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

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

Protein differential expression in normal tissues from HIPED for LCAT Gene

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

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LCAT

SOURCE GeneReport for Unigene cluster for LCAT Gene:

Hs.387239

mRNA Expression by UniProt/SwissProt for LCAT Gene:

P04180-LCAT_HUMAN
Tissue specificity: Detected in blood plasma (PubMed:3458198, PubMed:8820107, PubMed:10222237). Detected in cerebral spinal fluid (at protein level) (PubMed:10222237). Detected in liver (PubMed:3797244, PubMed:3458198). Expressed mainly in brain, liver and testes.

Evidence on tissue expression from TISSUES for LCAT Gene

  • Nervous system(4.5)
  • Bone marrow(4.2)
  • Liver(3.5)
  • Blood(2.8)
  • Kidney(2.4)
  • Skin(2.4)
  • Heart(2.4)
  • Intestine(2.3)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LCAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with LCAT: view

No data available for Protein tissue co-expression partners for LCAT Gene

Orthologs for LCAT Gene

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

Orthologs for LCAT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LCAT 29 30
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LCAT 29 30
  • 90.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LCAT 29 30
  • 89.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lcat 29
  • 85.99 (n)
Mouse
(Mus musculus)
Mammalia Lcat 29 16 30
  • 85.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LCAT 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LCAT 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LCAT 29 30
  • 73.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LCAT 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lcat 29
  • 62.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21118 29
Zebrafish
(Danio rerio)
Actinopterygii LOC793137 29
  • 63.91 (n)
lcat 30
  • 59 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG18858 30
  • 33 (a)
ManyToMany
CG31683 30
  • 33 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea M05B5.4 30
  • 36 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LRO1 32
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9541 30
  • 31 (a)
OneToMany
Species where no ortholog for LCAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LCAT Gene

ENSEMBL:
Gene Tree for LCAT (if available)
TreeFam:
Gene Tree for LCAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LCAT: view image
Alliance of Genome Resources:
Additional Orthologs for LCAT

Paralogs for LCAT Gene

Paralogs for LCAT Gene

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

  • LCAT_HUMAN
  • I3L0J6_HUMAN
  • I3L1Q6_HUMAN
  • I3L215_HUMAN
  • I3L3R0_HUMAN
  • J3QKT0_HUMAN
  • J3QSE5_HUMAN
  • Q9Y5N3_HUMAN
genes like me logo Genes that share paralogs with LCAT: view

Variants for LCAT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LCAT Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
884652 Uncertain Significance: Norum disease 67,940,366(-) G/A
NM_000229.2(LCAT):c.861C>T (p.His287=)
SYNONYMOUS
884653 Likely Benign: Norum disease 67,942,417(-) A/T
NM_000229.2(LCAT):c.694T>A (p.Ser232Thr)
MISSENSE
884654 Uncertain Significance: Norum disease 67,942,493(-) G/A
NM_000229.2(LCAT):c.618C>T (p.Leu206=)
SYNONYMOUS
884655 Uncertain Significance: Norum disease 67,942,514(-) G/A
NM_000229.2(LCAT):c.597C>T (p.Val199=)
SYNONYMOUS
884656 Uncertain Significance: Norum disease 67,942,559(-) G/A
NM_000229.2(LCAT):c.552C>T (p.Leu184=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LCAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680

Variation tolerance for LCAT Gene

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

Additional Variant Information for LCAT Gene

Human Gene Mutation Database (HGMD)
LCAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCAT
Leiden Open Variation Database (LOVD)
LCAT

SNP Genotyping and Copy Number Assays for research

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

Disorders for LCAT Gene

MalaCards: The human disease database

(48) MalaCards diseases for LCAT Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search LCAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

Genatlas disease for LCAT Gene

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

Additional Disease Information for LCAT

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LCAT: view

Publications for LCAT Gene

  1. Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele. (PMID: 2370048) Taramelli R … McLean J (Human genetics 1990) 3 4 22 72
  2. Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. (PMID: 20160193) Weissglas-Volkov D … Pajukanta P (Circulation. Cardiovascular genetics 2010) 3 22 40
  3. Common variants at 30 loci contribute to polygenic dyslipidemia. (PMID: 19060906) Kathiresan S … Cupples LA (Nature genetics 2009) 3 22 40
  4. Association of lipoprotein lipase D9N polymorphism with myocardial infarction in type 2 diabetes: the genetics, outcomes, and lipids in type 2 diabetes (GOLD) study. (PMID: 18823627) Izar MC … GOLD Investigators (Atherosclerosis 2009) 3 22 40
  5. Do mutations causing low HDL-C promote increased carotid intima-media thickness? (PMID: 17113061) Miller M … Riley W (Clinica chimica acta; international journal of clinical chemistry 2007) 3 22 40

Products for LCAT Gene

Sources for LCAT Gene