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

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: mouse all
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Genomic context

Location:: 18q21.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (49561479..49599185)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (49759293..49797014)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (47088427..47125555)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endothelial lipase variant T111I does not alter inhibition by angiopoietin-like proteins.
Title: Endothelial lipase variant T111I does not alter inhibition by angiopoietin-like proteins.
Integrated analysis of DNA methylome and transcriptome reveals SFRP1 and LIPG as potential drivers of ovarian cancer metastasis.
Title: Integrated analysis of DNA methylome and transcriptome reveals SFRP1 and LIPG as potential drivers of ovarian cancer metastasis.
Mechanistic analysis of endothelial lipase G promotion of the occurrence and development of cervical carcinoma by activating the phosphatidylinositol-4,5-bisphosphate 3-kinase/protein kinase B/mechanistic target of rapamycin kinase signalling pathway.
Title: Mechanistic analysis of endothelial lipase G promotion of the occurrence and development of cervical carcinoma by activating the phosphatidylinositol-4,5-bisphosphate 3-kinase/protein kinase B/mechanistic target of rapamycin kinase signalling pathway.
Case-Control Study and Meta-Analysis of the Association Between LIPG rs9958947 SNP and Stroke Risk.
Title: Case-Control Study and Meta-Analysis of the Association Between LIPG rs9958947 SNP and Stroke Risk.
LIPG: an inflammation and cancer modulator.
Title: LIPG: an inflammation and cancer modulator.
LIPG endothelial lipase and breast cancer risk by subtypes.
Title: LIPG endothelial lipase and breast cancer risk by subtypes.
Roles of endothelial lipase gene related single nucleotide polymorphisms in patients with coronary artery disease.
Title: Roles of endothelial lipase gene related single nucleotide polymorphisms in patients with coronary artery disease.
Gene polymorphism associated with angiotensinogen (M235T), endothelial lipase (584C/T) and susceptibility to coronary artery disease: a meta-analysis.
Title: Gene polymorphism associated with angiotensinogen (M235T), endothelial lipase (584C/T) and susceptibility to coronary artery disease: a meta-analysis.
Significant association between the endothelial lipase gene 584C/T polymorphism and coronary artery disease risk.
Title: Significant association between the endothelial lipase gene 584C/T polymorphism and coronary artery disease risk.
Association of 584C/T polymorphism in endothelial lipase gene with risk of coronary artery disease.
Title: Association of 584C/T polymorphism in endothelial lipase gene with risk of coronary artery disease.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC151857P1 (e-PCR)
- UniSTS:271189

D18S1238 (e-PCR)
- UniSTS:60000

LIPG_900 (e-PCR)
- UniSTS:277453

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 lipoprotein lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylserine 1-acylhydrolase activity	IEA Inferred from Electronic Annotation more info
enables phospholipase A1 activity	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipase A1 activity	IDA Inferred from Direct Assay 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

Process	Evidence Code	Pubs
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in high-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in high-density lipoprotein particle remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in phospholipid catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in phospholipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of high-density lipoprotein particle clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lipoprotein metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in reverse cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info

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
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endothelial lipase

Names: endothelial cell-derived lipase; lipase, endothelial; lipoprotein lipase H; phospholipase A1

NP_001294935.1

EC 3.1.1.3

EC 3.1.1.32

NP_006024.1

EC 3.1.1.3

EC 3.1.1.32

XP_047293900.1

EC 3.1.1.3

EC 3.1.1.32

XP_054175348.1

EC 3.1.1.3

EC 3.1.1.32

NCBI Reference Sequences (RefSeq)

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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)

NM_001308006.2 → NP_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/TrEMBL

A8K6Y4, B2RCS7, B4DTR8

Related

ENSP00000387978.2, ENST00000427224.6

Conserved Domains (3) summary

TIGR03230
Location:50 → 411

lipo_lipase; lipoprotein lipase

cd01758
Location:273 → 409

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:49 → 266

Abhydrolase; alpha/beta hydrolases
NM_006033.4 → NP_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

B0LPG6, Q6P9C8, Q6UW82, Q9Y5X9

UniProtKB/TrEMBL

A8K6Y4, B2RCS7

Related

ENSP00000261292.4, ENST00000261292.9

Conserved Domains (3) summary

TIGR03230
Location:50 → 485

lipo_lipase; lipoprotein lipase

cd00707
Location:49 → 340

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:347 → 483

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 ...