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

    Gene ID: 3990, updated on 28-Oct-2024

    Summary

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    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, Oct 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

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    See LIPC in Genome Data Viewer
    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_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6478 Neighboring gene uncharacterized LOC124903499 Neighboring gene ribosomal protein L28 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58540501-58541001 Neighboring gene Sharpr-MPRA regulatory region 5540 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:58576109-58577308 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:58624073-58625272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58638163-58638664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58638665-58639164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58655345-58655845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9469 Neighboring gene MPRA-validated peak2354 silencer Neighboring gene Sharpr-MPRA regulatory region 6038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9470 Neighboring gene Sharpr-MPRA regulatory region 12189 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:58731214-58731454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58741275-58741775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6480 Neighboring gene LIPC antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:58813484-58814683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:58840709-58841347 Neighboring gene NANOG hESC enhancer GRCh37_chr15:58853387-58853916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9475 Neighboring gene small nucleolar RNA U13 Neighboring gene ADAM metallopeptidase domain 10 Neighboring gene high mobility group box 1 pseudogene 51

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. 18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online. Tiebel O, et al. Hum Mutat, 1998. PMID 10660332
    2. Relation of the -514C/T polymorphism in the hepatic lipase gene to serum HDL and LDL cholesterol levels in postmenopausal women under hormone replacement therapy. Yamakawa-Kobayashi K, et al. Atherosclerosis, 2002 May. PMID 11947893
    3. Association of the -514C-->T polymorphism in the hepatic lipase gene (LIPC) promoter with elevated fasting insulin concentrations, but not insulin resistance, in non-diabetic Germans. Machicao F, et al. Horm Metab Res, 2004 May. PMID 15156410
    4. Hepatic lipase gene variation is related to coronary reactivity in healthy young men. Fan Y, et al. Eur J Clin Invest, 2001 Jul. PMID 11454011
    5. Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. Brown RJ, et al. J Biol Chem, 2004 Oct 8. PMID 15292235

    See all (334) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [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].
    2. 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.
    3. 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.
    4. 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).
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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

    EBI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    EBI GWAS Catalog
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    A genome-wide assessment of variability in human serum metabolism.
    EBI GWAS Catalog
    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 genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    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 association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
    EBI GWAS Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
    EBI GWAS Catalog
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    EBI GWAS Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    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
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    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
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    EBI GWAS Catalog
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 A1 activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

    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

    1. NG_011465.2 RefSeqGene

      Range
      5016..142869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      58431991..58569844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      56233960..56371844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11150.3 GenPept UniProtKB/Swiss-Prot:P11150

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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