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    LIPG lipase G, endothelial type [ Homo sapiens (human) ]

    Gene ID: 9388, updated on 22-Apr-2017
    Official Symbol
    LIPGprovided by HGNC
    Official Full Name
    lipase G, endothelial typeprovided by HGNC
    Primary source
    HGNC:HGNC:6623
    See related
    Ensembl:ENSG00000101670 MIM:603684; Vega:OTTHUMG00000179658
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EL; EDL; PRO719
    Summary
    The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    18q21.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (49560699..49592908)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47087069..47119278)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928144 Neighboring gene signal recognition particle 72 pseudogene 1 Neighboring gene uncharacterized LOC105372112 Neighboring gene single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 Neighboring gene uncharacterized LOC107984031

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    NHGRI GWA Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    NHGRI GWA Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein lipase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylcholine 1-acylhydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    high-density lipoprotein particle remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid digestion TAS
    Traceable Author Statement
    more info
     
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    phospholipid catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    phospholipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of high-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of lipoprotein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    reverse cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    endothelial lipase
    Names
    endothelial cell-derived lipase
    lipase, endothelial
    lipoprotein lipase H
    NP_001294935.1
    NP_006024.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001308006.1NP_001294935.1  endothelial lipase isoform 2 precursor

      See identical proteins and their annotated locations for NP_001294935.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF118767, AI861822, AK300333, BC060825, DC381775
      Consensus CDS
      CCDS77187.1
      UniProtKB/Swiss-Prot
      Q9Y5X9
      UniProtKB/TrEMBL
      B4DTR8
      Related
      ENSP00000387978.2, OTTHUMP00000262074, ENST00000427224.6, OTTHUMT00000447547
      Conserved Domains (3) summary
      TIGR03230
      Location:50411
      lipo_lipase; lipoprotein lipase
      cd01758
      Location:273409
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
      cl21494
      Location:49266
      Abhydrolase; alpha/beta hydrolases
    2. NM_006033.3NP_006024.1  endothelial lipase isoform 1 precursor

      See identical proteins and their annotated locations for NP_006024.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF118767, AI861822, BC060825, DC381775
      Consensus CDS
      CCDS11938.1
      UniProtKB/Swiss-Prot
      Q9Y5X9
      UniProtKB/TrEMBL
      A0A024R2B5
      Related
      ENSP00000261292.4, OTTHUMP00000262073, ENST00000261292.8, OTTHUMT00000447546
      Conserved Domains (3) summary
      TIGR03230
      Location:50485
      lipo_lipase; lipoprotein lipase
      cd00707
      Location:49340
      Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
      cd01758
      Location:347483
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      49560699..49592908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258390.1XP_005258447.1  endothelial lipase isoform X1

      Conserved Domains (3) summary
      TIGR03230
      Location:86521
      lipo_lipase; lipoprotein lipase
      cd00707
      Location:85376
      Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
      cd01758
      Location:383519
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
    2. XM_017026095.1XP_016881584.1  endothelial lipase isoform X4

    3. XM_011526267.1XP_011524569.1  endothelial lipase isoform X3

      Conserved Domains (2) summary
      cd00707
      Location:4260
      Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
      cd01758
      Location:267403
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
    4. XM_011526265.2XP_011524567.1  endothelial lipase isoform X2

      Conserved Domains (3) summary
      TIGR03230
      Location:86447
      lipo_lipase; lipoprotein lipase
      cd01758
      Location:309445
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
      cl21494
      Location:85302
      Abhydrolase; alpha/beta hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      47083732..47114772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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