LIPC lipase, hepatic [Homo sapiens] - Gene

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Summary

Official Symbol: LIPCprovided by HGNC
Official Full Name: lipase, hepaticprovided by HGNC
Primary source: HGNC:6619
See related: Ensembl:ENSG00000166035; HPRD:01058; MIM:151670; Vega:OTTHUMG00000132632
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: LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 15q21-q23

Sequence :: Chromosome: 15; NC_000015.9 (58724175..58861073)

See LIPC in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Single-nucleotide polymorphism in lipase is associated with colorectal cancer.
Title: Genetic polymorphisms in fatty acid metabolism genes and colorectal cancer.
the LIPC -514C>T variant significantly affects training-induced anti-atherogenic changes in VLDL-TG, VLDL particles, and HDL through an association with increased LPL activity in CC subjects
Title: Hepatic lipase gene -514C>T variant is associated with exercise training-induced changes in VLDL and HDL by lipoprotein lipase.
Avascular necrosis of femoral head is not associated with rs59644784 and rs1800588 SNPs.
Title: [Study on correlation between single nucleotide polymorphism in promotor of hepatic lipase gene and nontraumatic avascular necrosis of femoral head].
presence of the B1B1 Taq1B CETP genotype contributes to the presence of diabetes, independently of age, sex, BMI and waist. However, among carriers of B1B1, the presence of GG genotype of the -250 LIPC polymorphism increases this risk further
Title: Interaction between cholesteryl ester transfer protein and hepatic lipase encoding genes and the risk of type 2 diabetes: results from the Telde study.
The variation in lipid profile associated with the C-514T in hepatic lipase polymorphism is significant, and the T allele is associated with the best response to estrogen replacement therapy
Title: Positive association of the hepatic lipase gene polymorphism c.514C > T with estrogen replacement therapy response.
Data show a novel pathway involving HL hydrolysis of VLDL that activates PPARdelta through generation of specific monounsaturated fatty acids.
Title: VLDL hydrolysis by hepatic lipase regulates PPARδ transcriptional responses.
Suggest that smaller LDL size, which is associated with higher levels of triglycerides and CETP and the hepatic lipase CC genotype, may serve as a risk factor for coronary artery disease in hemodialysis patients.
Title: Smaller low-density lipoprotein size as a possible risk factor for the prevalence of coronary artery diseases in haemodialysis patients: associations of cholesteryl ester transfer protein and the hepatic lipase gene polymorphism with low-density lipoprotein size.
CETP and LIPC polymorphisms influence the respective hepatic transcript levels, demonstrate interactions on HDL cholesterol and suggest that imbalances between CETP and LIPC activities may modulate the risk of carotid atherosclerosis
Title: Cholesteryl ester transfer protein and hepatic lipase gene polymorphisms: effects on hepatic mRNA levels, plasma lipids and carotid atherosclerosis.
Polymorphisms in APOA5 (-1131T > C, S19W), PPARgamma (Pro12Ala) and hepatic lipase (-514C > T) were studied in 1492 subjects from the New Delhi Birth Cohort (NDBC).
Title: Relationship of APOA5, PPARγ and HL gene variants with serial changes in childhood body mass index and coronary artery disease risk factors in young adulthood.
Genotyping of 25 single nucleotide polymorphisms covering the complete LIPC gene and haplotypic analysis reveal no association of LIPC with Alzheimer's disease.
Title: No association of lipase C polymorphisms with Alzheimer's disease.

Submit: New GeneRIF Correction See all (125)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

Common genetic variation and performance on standardized cognitive tests.

Common variants at 30 loci contribute to polygenic dyslipidemia.

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Diabetes mellitus, noninsulin-dependent

MIM: 125853

Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.

Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

High density lipoprotein cholesterol level QTL 12

MIM: 612797

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

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Products	Interactant	Other Gene	Source	Pubs	Description
P11150	P04114	APOB	HPRD	PubMed
P11150	Q07954	LRP1	HPRD	PubMed
BioGRID:110178	BioGRID:106835	APOB	BioGRID	PubMed	Reconstituted Complex
BioGRID:110178	BioGRID:110215	LRP1	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
apolipoprotein binding	ISS Inferred from Sequence or Structural Similarity more info
heparin binding	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
low-density lipoprotein particle binding	ISS Inferred from Sequence or Structural Similarity more info
phospholipase activity	TAS Traceable Author Statement more info	PubMed
retinyl-palmitate esterase activity	IEA Inferred from Electronic Annotation more info
triglyceride lipase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
chylomicron remnant clearance	TAS Traceable Author Statement more info	PubMed
fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
intermediate-density lipoprotein particle remodeling	TAS Traceable Author Statement more info	PubMed
lipid catabolic process	IEA Inferred from Electronic Annotation more info
low-density lipoprotein particle remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylcholine catabolic process	TAS Traceable Author Statement more info	PubMed
reverse cholesterol transport	IC Inferred by Curator more info	PubMed
triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
triglyceride homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: hepatic triacylglycerol lipase

Names: hepatic triacylglycerol lipase; hepatic lipase; lipase member C

NP_000227.2

EC 3.1.1.3

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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.

Genomic

NG_011465.1 RefSeqGene

Range

5001..141899

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000236.2 → NP_000227.2 hepatic triacylglycerol lipase precursor

Status: REVIEWED

Source sequence(s)

AI823349, AK315306, AV645541, BC146659, D83548

Consensus CDS

CCDS10166.1

UniProtKB/TrEMBL

A6H8L5

UniProtKB/Swiss-Prot

P11150

Related

ENSP00000299022, OTTHUMP00000163470, ENST00000299022, OTTHUMT00000255879

Conserved Domains (3) summary

cd01758
Location:352 – 487
Blast Score: 529

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 ...

cd00707
Location:49 – 345
Blast Score: 765

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 ...

TIGR03230
Location:62 – 497
Blast Score: 1139

lipo_lipase; lipoprotein lipase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

58724175..58861073

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

35547160..35684065

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC018904.6 (9017..113321)	None
genomic	AC084781.2 (140793..173385)	None
genomic	AF037404.1	AAC34206.1
genomic	CH471082.1	EAW77536.1
genomic	D83062.1	BAA11760.1
genomic	M29194.1	AAB60702.1
genomic	M35433.1	AAA59521.1
mRNA	AI823349.1	None
mRNA	AK290062.1	BAF82751.1
mRNA	AK292631.1	BAF85320.1
mRNA	AK293324.1	BAG56842.1
mRNA	AK309448.1	None
mRNA	AK315306.1	BAG37710.1
mRNA	AV645541.1	None
mRNA	BC132825.1	AAI32826.1
mRNA	BC136495.1	AAI36496.1
mRNA	BC146659.1	AAI46660.1
mRNA	D83548.1	BAA12014.1
mRNA	J03540.1	AAA59520.1
mRNA	J03895.1	AAA61165.1
mRNA	X07228.1	CAA30188.1
other-genetic	HQ258274.1	ADR83028.1