LIPC lipase C, hepatic type [Homo sapiens (human)] - Gene

Summary

Official Symbol: LIPCprovided by HGNC
Official Full Name: lipase C, hepatic typeprovided by HGNC
Primary source: HGNC:HGNC:6619
See related: Ensembl:ENSG00000166035 MIM:151670; AllianceGenome:HGNC:6619
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: HL; HTGL; LIPH; HDLCQ12
Summary: Enables phospholipase A1 activity and triacylglycerol lipase activity. Involved in several processes, including cholesterol homeostasis; plasma lipoprotein particle remodeling; and triglyceride catabolic process. Located in extracellular space. Implicated in several diseases, including Alzheimer's disease; coronary artery disease; familial combined hyperlipidemia; peripheral vascular disease; and type 2 diabetes mellitus. Biomarker of hyperinsulinism; obesity; and type 1 diabetes mellitus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver (RPKM 24.9) and kidney (RPKM 1.5) See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (58431991..58569844)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (56233960..56371844)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (58724190..58862043)

Chromosome 15 - NC_000015.10 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?

[Identification and 3D architecture analysis of the LIPC gene mutation in a pedigree with familial hypercholesterolemia-like phenotype].
Title: [Identification and 3D architecture analysis of the LIPC gene mutation in a pedigree with familial hypercholesterolemia-like phenotype].
Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma progression through LIPC/AKT axis.
Title: Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma progression through LIPC/AKT axis.
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Title: Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Genome-Wide Association Study of the Postprandial Triglyceride Response Yields Common Genetic Variation in LIPC (Hepatic Lipase).
Title: Genome-Wide Association Study of the Postprandial Triglyceride Response Yields Common Genetic Variation in LIPC (Hepatic Lipase).
Association between Endothelial nitric oxide synthase and Hepatic lipase gene polymorphisms with the risk of coronary artery disease in Southern Iran population - A case control study.
Title: Association between Endothelial nitric oxide synthase and Hepatic lipase gene polymorphisms with the risk of coronary artery disease in Southern Iran population - A case control study.
The -514C>T polymorphism in the LIPC gene modifies type 2 diabetes risk through modulation of HDL-cholesterol levels in Mexicans.
Title: The -514C>T polymorphism in the LIPC gene modifies type 2 diabetes risk through modulation of HDL-cholesterol levels in Mexicans.
Functional Haplotype of LIPC Induces Triglyceride-Mediated Suppression of HDL-C Levels According to Genome-Wide Association Studies.
Title: Functional Haplotype of LIPC Induces Triglyceride-Mediated Suppression of HDL-C Levels According to Genome-Wide Association Studies.
Lipase C, Hepatic Type -250A/G (rs2070895) Variant Enhances Carotid Atherosclerosis in Normolipidemic and Asymptomatic Individuals from Brazil.
Title: Lipase C, Hepatic Type -250A/G (rs2070895) Variant Enhances Carotid Atherosclerosis in Normolipidemic and Asymptomatic Individuals from Brazil.
A study of associations between CUBN, HNF1A, and LIPC gene polymorphisms and coronary artery disease.
Title: A study of associations between CUBN, HNF1A, and LIPC gene polymorphisms and coronary artery disease.
CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels.
Title: CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels.

Submit: New GeneRIF Correction See all GeneRIFs (173)

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

Associated conditions

Description	Tests
High density lipoprotein cholesterol level quantitative trait locus 12 MedGen: C2675071 OMIM: 612797 GeneReviews: Not available	not available
Hyperlipidemia due to hepatic triglyceride lipase deficiency MedGen: C3151466 OMIM: 614025 GeneReviews: Not available	not available
Type 2 diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	not available

EBI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide assessment of variability in human serum metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 genetic variation and performance on standardized cognitive tests. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 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 association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. 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
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
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seven new loci associated with age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. 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

RH122883 (e-PCR)
- UniSTS:135180

D15S1272 (e-PCR)
- UniSTS:28731

NoName (e-PCR)
- UniSTS:482377

RH79657 (e-PCR)
- UniSTS:86863

SHGC-85181 (e-PCR)
- UniSTS:104026

PMC20757P1 (e-PCR)
- UniSTS:271964

L17844 (e-PCR)
- UniSTS:24161

D15S1477 (e-PCR)
- UniSTS:474482

GDB:181520 (e-PCR)
- UniSTS:155253

WI-11458 (e-PCR)
- UniSTS:63113

G43001 (e-PCR)
- UniSTS:94870

RH71438 (e-PCR)
- UniSTS:43416

D15S1033 (e-PCR), detects polymorphism
- UniSTS:52378

fb73a01.x1 (e-PCR)
- UniSTS:191133

G60285 (e-PCR)
- UniSTS:137390

NoName (e-PCR)
- UniSTS:489653

GDB:196354 (e-PCR)
- UniSTS:155844

NoName (e-PCR)
- UniSTS:494549

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables apolipoprotein binding	IBA Inferred from Biological aspect of Ancestor more info
enables apolipoprotein binding	ISS Inferred from Sequence or Structural Similarity 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 low-density lipoprotein particle binding	ISS Inferred from Sequence or Structural Similarity more info
enables lysophospholipase activity	IEA Inferred from Electronic Annotation 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	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables triacylglycerol 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 cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in chylomicron remnant clearance	TAS Traceable Author Statement more info	PubMed
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
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 intermediate-density lipoprotein particle remodeling	TAS Traceable Author Statement more info	PubMed
involved_in low-density lipoprotein particle remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylcholine catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in reverse cholesterol transport	IC Inferred by Curator more info	PubMed
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
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
part_of high-density lipoprotein particle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: hepatic triacylglycerol lipase

Names: Triacylglycerol lipase; hepatic lipase; lipase member C; lipase, hepatic; lysophospholipase; phospholipase A1

NP_000227.2

EC 3.1.1.3

EC 3.1.1.32

EC 3.1.1.5

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.

Genomic

NG_011465.2 RefSeqGene

Range

5016..142869

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000236.3 → NP_000227.2 hepatic triacylglycerol lipase precursor

See identical proteins and their annotated locations for NP_000227.2

Status: REVIEWED

Source sequence(s)

AC018904, AI823349, AK315306, AV645541, BC146659, D83548

Consensus CDS

CCDS10166.1

UniProtKB/Swiss-Prot

A2RUB4, A8K9B6, O43571, P11150, P78529, Q99465

UniProtKB/TrEMBL

A8K1Z7

Related

ENSP00000299022.5, ENST00000299022.10

Conserved Domains (2) summary

cd01758
Location:352 → 487

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 ...

pfam00151
Location:24 → 349

Lipase; Lipase