U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LIPA lipase A, lysosomal acid type [ Homo sapiens (human) ]

Gene ID: 3988, updated on 14-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
LIPAprovided by HGNC
Official Full Name
lipase A, lysosomal acid typeprovided by HGNC
Primary source
HGNC:HGNC:6617
See related
Ensembl:ENSG00000107798 MIM:613497; AllianceGenome:HGNC:6617
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
LAL; CESD
Summary
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Expression
Broad expression in spleen (RPKM 177.6), small intestine (RPKM 113.4) and 21 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LIPA in Genome Data Viewer
Location:
10q23.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89213572..89251775, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90097469..90135709, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90973329..91011532, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378418 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3736 Neighboring gene cholesterol 25-hydroxylase Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90994669-90995170 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90995171-90995670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3738 Neighboring gene uncharacterized LOC124902477 Neighboring gene uncharacterized LOC105378419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3739 Neighboring gene interferon induced protein with tetratricopeptide repeats 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Lysosomal acid lipase in mesenchymal stem cell stimulation of tumor growth and metastasis. Zhao T, et al. Oncotarget, 2016 Sep 20. PMID 27531897, Free PMC Article
  2. Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein. Strøm TB, et al. Proteins, 2020 Mar. PMID 31587363
  3. Lipid accumulation impairs lysosomal acid lipase activity in hepatocytes: Evidence in NAFLD patients and cell cultures. Gomaraschi M, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2019 Dec. PMID 31505261
  4. Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease? Baratta F, et al. World J Gastroenterol, 2019 Aug 14. PMID 31435171, Free PMC Article
  5. Lysosomal acid lipase activity and liver fibrosis in the clinical continuum of non-alcoholic fatty liver disease. Baratta F, et al. Liver Int, 2019 Dec. PMID 31392821

See all (112) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ANGPTL4 Suppresses Clear Cell Renal Cell Carcinoma via Inhibition of Lysosomal Acid Lipase.
    Title: ANGPTL4 Suppresses Clear Cell Renal Cell Carcinoma via Inhibition of Lysosomal Acid Lipase.
  2. Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
    Title: Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
  3. Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase.
    Title: Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase.
  4. Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
    Title: Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
  5. Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.
    Title: Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.
  6. First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
    Title: First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
  7. Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.
    Title: Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.
  8. Lysosomal acid lipase regulates bioenergetic process during the cytodifferentiation of human periodontal ligament cells.
    Title: Lysosomal acid lipase regulates bioenergetic process during the cytodifferentiation of human periodontal ligament cells.
  9. Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells.
    Title: Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells.
  10. Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
    Title: Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

Go to the top of the page Help

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 genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
EBI GWAS Catalog
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sterol ester esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sterol ester esterase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sterol ester esterase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables sterol ester esterase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in T cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in T cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in TOR signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in acute inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in adaptive thermogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in blood vessel endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in bone marrow development IEA
Inferred from Electronic Annotation
more info
  
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell proliferation in bone marrow IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol efflux IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol storage IEA
Inferred from Electronic Annotation
more info
  
involved_in common myeloid progenitor cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in defecation IEA
Inferred from Electronic Annotation
more info
  
involved_in determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in endosome to lysosome transport IEA
Inferred from Electronic Annotation
more info
  
involved_in endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in fat cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in glucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycolytic process IEA
Inferred from Electronic Annotation
more info
  
involved_in hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid import into cell IEA
Inferred from Electronic Annotation
more info
  
involved_in lipoprotein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in liver morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
  
involved_in lung development IEA
Inferred from Electronic Annotation
more info
  
involved_in lysosome organization IEA
Inferred from Electronic Annotation
more info
  
involved_in macrophage homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrion organization IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organismal-level chemical homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in myeloid cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in reactive oxygen species biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of mitochondrial membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in respiratory burst involved in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in response to cold IEA
Inferred from Electronic Annotation
more info
  
involved_in response to dietary excess IEA
Inferred from Electronic Annotation
more info
  
involved_in response to rapamycin IEA
Inferred from Electronic Annotation
more info
  
involved_in response to vitamin A IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in small GTPase-mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in spleen development IEA
Inferred from Electronic Annotation
more info
  
involved_in sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tissue remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in triglyceride-rich lipoprotein particle clearance IEA
Inferred from Electronic Annotation
more info
  
involved_in vitamin A metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
lysosomal acid lipase/cholesteryl ester hydrolase
Names
acid cholesteryl ester hydrolase
cholesterol ester hydrolase
cholesteryl esterase
diacylglycerol lipase
lipase A, lysosomal acid, cholesterol esterase
lysosomal acid lipase
sterol esterase
triacylglycerol ester hydrolase
triacylglycerol lipase
NP_000226.2
NP_001121077.1
NP_001275908.1
XP_024303791.1
XP_054221916.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_008194.1 RefSeqGene

    Range
    5129..43332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000235.4 → NP_000226.2  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    See identical proteins and their annotated locations for NP_000226.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 5' UTR, as compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC012287, DA394611
    Consensus CDS
    CCDS7401.1
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000337354.5, ENST00000336233.10
    Conserved Domains (1) summary
    PLN02872
    Location:38 → 396
    PLN02872; triacylglycerol lipase

  2. NM_001127605.3 → NP_001121077.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    See identical proteins and their annotated locations for NP_001121077.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    BC012287, HY150944
    Consensus CDS
    CCDS7401.1
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Conserved Domains (1) summary
    PLN02872
    Location:38 → 396
    PLN02872; triacylglycerol lipase

  3. NM_001288979.2 → NP_001275908.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive exons in the 5' region, which results in translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC012287, DA466221
    Consensus CDS
    CCDS73160.1
    UniProtKB/TrEMBL
    A0A0A0MT32
    Related
    ENSP00000413019.2, ENST00000456827.5
    Conserved Domains (1) summary
    PLN02872
    Location:1 → 280
    PLN02872; triacylglycerol 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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    89213572..89251775 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448023.2 → XP_024303791.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform X1

    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Conserved Domains (1) summary
    PLN02872
    Location:38 → 396
    PLN02872; triacylglycerol lipase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    90097469..90135709 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365941.1 → XP_054221916.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_110233.1: Suppressed sequence

    Description
    NR_110233.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P38571.2 GenPept UniProtKB/Swiss-Prot:P38571

Gene LinkOut

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

Other Literature Sources
Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous