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

Gene ID: 9388, updated on 1-Jun-2020

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
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

Genomic context

See LIPG in Genome Data Viewer
Location:
18q21.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (49560699..49599185)
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 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 uncharacterized LOC107984031

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

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

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
heparin binding IEA
Inferred from Electronic Annotation
more info
 
lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipoprotein lipase activity IEA
Inferred from Electronic Annotation
more info
 
phospholipase A1 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 
high-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
 
lipid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
NP_001294935.1
NP_006024.1
XP_005258447.1
XP_011524567.1
XP_011524569.1
XP_016881584.1

NCBI Reference Sequences (RefSeq)

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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    49560699..49599185
    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_011526265.3XP_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
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