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

Gene ID: 3990, updated on 7-Dec-2018

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
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]
Expression
Biased expression in liver (RPKM 24.9) and kidney (RPKM 1.5) See more
Orthologs

Genomic context

See LIPC in Genome Data Viewer
Location:
15q21.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (58410457..58568952)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58702953..58861073)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928635 Neighboring gene MT-ND6 pseudogene 23 Neighboring gene aquaporin 9 Neighboring gene ribosomal protein L28 pseudogene 4 Neighboring gene LIPC antisense RNA 1 Neighboring gene ADAM metallopeptidase domain 10 Neighboring gene guanine nucleotide binding protein (G protein), gamma 10 pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
not available
Hepatic lipase deficiency
MedGen: C3151466 OMIM: 614025 GeneReviews: Not available
Compare labs
High density lipoprotein cholesterol level quantitative trait locus 12
MedGen: C2675071 OMIM: 612797 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
NHGRI GWA Catalog
A genome-wide assessment of variability in human serum metabolism.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common genetic variation and performance on standardized cognitive tests.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
NHGRI GWA Catalog
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
NHGRI GWA Catalog
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
NHGRI GWA Catalog
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA 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.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
NHGRI GWA Catalog
Seven new loci associated with age-related macular degeneration.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
apolipoprotein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
heparin binding 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 
triglyceride lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride lipase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
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
Triacylglycerol lipase
hepatic lipase
lipase member C
lipase, hepatic
NP_000227.2
XP_005254429.1
XP_005254431.2
XP_006720565.1
XP_016877665.1
XP_024305684.1
XP_024305685.1

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

  1. NG_011465.1 RefSeqGene

    Range
    5001..141899
    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
    P11150
    UniProtKB/TrEMBL
    A6H8L5
    Related
    ENSP00000299022.5, ENST00000299022.9
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    58410457..58568952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449916.1XP_024305684.1  hepatic triacylglycerol lipase isoform X2

    Related
    ENSP00000348425.6, ENST00000356113.10
    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
  2. XM_005254372.1XP_005254429.1  hepatic triacylglycerol lipase isoform X2

    See identical proteins and their annotated locations for XP_005254429.1

    UniProtKB/Swiss-Prot
    P11150
    Related
    ENSP00000395569.3, ENST00000414170.7
    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
  3. XM_024449917.1XP_024305685.1  hepatic triacylglycerol lipase isoform X2

    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
  4. XM_006720502.4XP_006720565.1  hepatic triacylglycerol lipase isoform X3

    Conserved Domains (3) summary
    TIGR03230
    Location:15450
    lipo_lipase; lipoprotein lipase
    cd00707
    Location:2298
    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:305440
    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 ...
  5. XM_017022176.1XP_016877665.1  hepatic triacylglycerol lipase isoform X4

  6. XM_005254374.4XP_005254431.2  hepatic triacylglycerol lipase isoform X1

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