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    LIPA lipase A, lysosomal acid, cholesterol esterase [ Homo sapiens ]

    Gene ID: 3988, updated on 5-Feb-2012
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    Summary

    Official Symbol
    LIPAprovided by HGNC
    Official Full Name
    lipase A, lysosomal acid, cholesterol esteraseprovided by HGNC
    Primary source
    HGNC:6617
    Locus tag
    RP11-341B24.1
    See related
    Ensembl:ENSG00000107798; HPRD:02044; MIM:613497; Vega:OTTHUMG00000018716
    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 encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    10q23.2-q23.3
    Sequence :
    Chromosome: 10; NC_000010.10 (90973326..91011660, complement)
    See LIPA in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene zinc finger RNA binding protein pseudogene Neighboring gene cholesterol 25-hydroxylase Neighboring gene interferon-induced protein with tetratricopeptide repeats 2 Neighboring gene uncharacterized LOC100507575 Neighboring gene interferon-induced protein with tetratricopeptide repeats 3

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Myeloid-specific expression of human lysosomal acid lipase corrects malformation and malfunction of myeloid-derived suppressor cells in lal-/- mice. Qu P, et al. J Immunol, 2011 Oct 1. PMID 21900179.
    2. A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Wild PS, et al. Circ Cardiovasc Genet, 2011 Aug 1. PMID 21606135.
    3. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Coronary Artery Disease (C4D) Genetics Consortium. Nat Genet, 2011 Mar 6. PMID 21378988.
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    5. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? Ruaño G, et al. Pharmacogenomics, 2010 Jul. PMID 20602615.

    See all (38) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. Lysosomal acid lipase in myeloid cells plays a critical role in maintaining normal hematopoietic cell development and balancing immunosuppression and inflammation.
      Title: Myeloid-specific expression of human lysosomal acid lipase corrects malformation and malfunction of myeloid-derived suppressor cells in lal-/- mice.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. the molecular characterization of three heterozygous patients with Cholesteryl Ester Storage Disease carrying the common LIPA gene mutation (c.894 G>A, del p.S275_Q298), in combination with two novel mutations resulting in null alleles, was reported.
      Title: Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Although LAL contributed to the deesterification of DHEA-FAE, it was not solely responsible for the hydrolysis.
      Title: Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
    7. The human liver enzyme is expressed in hepatocytes, where it potentially regulates the synthesis of bile acids and thus the removal of cholesterol from the body.
      Title: Human liver cholesteryl ester hydrolase: cloning, molecular characterization, and role in cellular cholesterol homeostasis.
    8. macrophage cholesteryl ester hydrolase associates with its intracellular substrate (lipid droplets) and hydrolyzes cholesteryl esters more efficiently from mixed droplets
      Title: Redistribution of macrophage cholesteryl ester hydrolase from cytoplasm to lipid droplets upon lipid loading.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A Genome-wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease.

    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.

    Wolman disease

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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the LIPA gene: The LIPA gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.pombe, S.cerevisiae, E.gossypii, M.grisea, N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Steroid biosynthesis, organism-specific biosystem (from KEGG)
      Steroid biosynthesis, organism-specific biosystem
      Steroid biosynthesis
    • Steroid biosynthesis, conserved biosystem (from KEGG)
      Steroid biosynthesis, conserved biosystem
      Steroid biosynthesis

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    lipase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    lipase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    sterol esterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    sterol esterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytokine production IEA
    Inferred from Electronic Annotation
    more info
    		  
    fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
    		  
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    sterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    tissue remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    lysosomal acid lipase/cholesteryl ester hydrolase
    Names
    lysosomal acid lipase/cholesteryl ester hydrolase
    sterol esterase
    cholesteryl esterase
    lysosomal acid lipase
    cholesterol ester hydrolase
    acid cholesteryl ester hydrolase
    NP_000226.2
    NP_001121077.1
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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

    1. NG_008194.1 RefSeqGene

      Range
      5001..43335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal segment in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AU135835, BC012287, X76488
      Consensus CDS
      CCDS7401.1
      UniProtKB/Swiss-Prot
      P38571
      Related
      ENSP00000337354, OTTHUMP00000020066, ENST00000336233, OTTHUMT00000049308
      Conserved Domains (2) summary
      PLN02872
      Location:38 – 396
      Blast Score: 468
      PLN02872; triacylglycerol lipase
      pfam04083
      Location:37 – 99
      Blast Score: 273
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK314665, AU135835, BC012287, CA435432, DA275550
      Consensus CDS
      CCDS7401.1
      UniProtKB/Swiss-Prot
      P38571
      Related
      ENSP00000413019, ENST00000456827
      Conserved Domains (2) summary
      PLN02872
      Location:38 – 396
      Blast Score: 468
      PLN02872; triacylglycerol lipase
      pfam04083
      Location:37 – 99
      Blast Score: 273
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

    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

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      90973326..91011660, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      84607788..84646145, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL353146.9 CAI12380.1
    genomic AL353751.13 CAI12234.1
      CAI12235.1
      CAI12236.1
      CAI12237.1
    genomic AL353751.13 CAI12234.1
      CAI12235.1
      CAI12236.1
      CAI12237.1
    genomic AL513533.15 CAI13515.1
      CAI13516.1
      CAI13517.1
    genomic CH471066.2 EAW50140.1
      EAW50141.1
      EAW50142.1
    genomic U04285.1 AAB60327.1
    mRNA AK091558.1 BAG52380.1
    mRNA AK096406.1 BAG53281.1
    mRNA AK125193.1 BAC86078.1
    mRNA AK130882.1 None
    mRNA AK222760.1 BAD96480.1
    mRNA AK290241.1 BAF82930.1
    mRNA AK293491.1 BAG56978.1
    mRNA AK297079.1 BAG59596.1
    mRNA AK314665.1 BAG37222.1
    mRNA AU135835.1 None
    mRNA BC012287.1 AAH12287.1
    mRNA CA435432.1 None
    mRNA DA275550.1 None
    mRNA M74775.1 AAA59519.1
    mRNA S68069.1 AAB29185.1
    mRNA U08464.1 AAB60328.1
    mRNA X76488.1 CAA54026.1
    mRNA Z31690.1 CAA83495.1
    other-genetic HQ447241.1 ADQ31728.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P38571.2 GenPept UniProtKB/Swiss-Prot:P38571
    Q5T073 GenPept UniProtKB/TrEMBL:Q5T073
    Q5T770 GenPept UniProtKB/TrEMBL:Q5T770
    Q6ZUY8 GenPept UniProtKB/TrEMBL:Q6ZUY8
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    Additional Links

    Additional Links

    Gene LinkOut

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

    Chemical Information
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