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

    Gene ID: 9388, updated on 13-May-2022

    Summary

    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; AllianceGenome:HGNC:6623
    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]
    Expression
    Biased expression in thyroid (RPKM 109.5), placenta (RPKM 50.3) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LIPG in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49561479..49599185)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49759871..49797014)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47088427..47125555)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2837 Neighboring gene signal recognition particle 72 pseudogene 1 Neighboring gene uncharacterized LOC105372112 Neighboring gene uncharacterized LOC112268210 Neighboring gene single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 Neighboring gene acetyl-CoA acyltransferase 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acyl-2-lysophosphatidylserine acylhydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lipoprotein lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylserine 1-acylhydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipase A1 activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phospholipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables triglyceride lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    endothelial lipase
    Names
    endothelial cell-derived lipase
    lipase, endothelial
    lipoprotein lipase H
    phospholipase A1
    NP_001294935.1
    NP_006024.1
    XP_047293900.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001308006.2NP_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)
      AC091170, AF118767, AI861822, AK300333, BC060825, DC381775
      Consensus CDS
      CCDS77187.1
      UniProtKB/Swiss-Prot
      Q9Y5X9
      UniProtKB/TrEMBL
      B4DTR8
      Related
      ENSP00000387978.2, ENST00000427224.6
      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_006033.4NP_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)
      AC091170, AF118767, AI861822, BC060825
      Consensus CDS
      CCDS11938.1
      UniProtKB/Swiss-Prot
      Q9Y5X9
      UniProtKB/TrEMBL
      A0A024R2B5
      Related
      ENSP00000261292.4, ENST00000261292.9
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      49561479..49599185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437944.1XP_047293900.1  endothelial lipase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      49759871..49797014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)