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

    Gene ID: 3988, updated on 12-Mar-2017
    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; 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 have been found for this gene. [provided by RefSeq, Jan 2014]
    Orthologs
    Location:
    10q23.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (89213569..89252039, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90973326..91011660, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378418 Neighboring gene cholesterol 25-hydroxylase Neighboring gene uncharacterized LOC105378419 Neighboring gene interferon induced protein with tetratricopeptide repeats 2 Neighboring gene uncharacterized LOC101926887 Neighboring gene interferon induced protein with tetratricopeptide repeats 3

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Lysosomal acid lipase deficiency
    MedGen: C0043208 OMIM: 278000 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
    NHGRI GWA Catalog
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    NHGRI GWA Catalog
    • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • 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...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Phase I biotransformations, non P450, organism-specific biosystem (from WikiPathways)
      Phase I biotransformations, non P450, organism-specific biosystemThis pathway lists several phase 1 biotransformations and their related enzymes.
    • 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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sterol esterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sterol esterase activity TAS
    Traceable Author Statement
    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
     
    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
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    tissue remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    lysosomal acid lipase/cholesteryl ester hydrolase
    Names
    acid cholesteryl ester hydrolase
    cholesterol ester hydrolase
    cholesteryl esterase
    lipase A, lysosomal acid, cholesterol esterase
    lysosomal acid lipase
    sterol esterase
    NP_000226.2
    NP_001121077.1
    NP_001275908.1

    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
      4865..43335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000235.3NP_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, CA435432, DA394611
      Consensus CDS
      CCDS7401.1
      UniProtKB/Swiss-Prot
      P38571
      Related
      ENSP00000337354, OTTHUMP00000020066, ENST00000336233, OTTHUMT00000049308
      Conserved Domains (3) summary
      pfam00561
      Location:80380
      Abhydrolase_1; alpha/beta hydrolase fold
      pfam04083
      Location:3799
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
      pfam12695
      Location:80252
      Abhydrolase_5; Alpha/beta hydrolase family
    2. NM_001127605.2NP_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, CA435432, HY150944
      Consensus CDS
      CCDS7401.1
      UniProtKB/Swiss-Prot
      P38571
      Conserved Domains (3) summary
      pfam00561
      Location:80380
      Abhydrolase_1; alpha/beta hydrolase fold
      pfam04083
      Location:3799
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
      pfam12695
      Location:80252
      Abhydrolase_5; Alpha/beta hydrolase family
    3. NM_001288979.1NP_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, CA435432, DA394611, DA466221
      Consensus CDS
      CCDS73160.1
      UniProtKB/Swiss-Prot
      P38571
      UniProtKB/TrEMBL
      A0A0A0MT32
      Related
      ENSP00000413019, ENST00000456827
      Conserved Domains (1) summary
      PLN02872
      Location:1280
      PLN02872; triacylglycerol lipase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      89213569..89252039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      91255383..91293855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.
    Support Center