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

Gene ID: 3990, updated on 21-Jan-2024

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 triglyceride lipase activity. Involved in several processes, including lipid 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, Apr 2022]
Expression
Biased expression in liver (RPKM 24.9) and kidney (RPKM 1.5) See more
Orthologs
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Genomic context

See LIPC in Genome Data Viewer
Location:
15q21.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (58431991..58569844)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (56233960..56371844)
105.20220307 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

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-acyl-2-lysophosphatidylserine acylhydrolase activity IEA
Inferred from Electronic Annotation
more info
 
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 phosphatidyl phospholipase B 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 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 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

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)

NEW Try the new Transcript table

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_000236.3NP_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:352487
    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:24349
    Lipase; Lipase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)