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

    Gene ID: 3988, updated on 8-Jul-2021

    Summary

    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
    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
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    Genomic context

    See LIPA in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (89213571..89251926, complement)
    105.20201022 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 cholesterol 25-hydroxylase Neighboring gene uncharacterized LOC105378419 Neighboring gene interferon induced protein with tetratricopeptide repeats 2

    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

    Associated conditions

    Description Tests
    A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
    GeneReviews: Not available
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    GeneReviews: Not available
    Lysosomal acid lipase deficiency Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sterol esterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sterol esterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sterol esterase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables sterol esterase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation 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 inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid catabolic process 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 sterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tissue remodeling 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
    PubMed 
    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

    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
    XP_024303791.1

    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_008194.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000235.4NP_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
      P38571
      Related
      ENSP00000337354.5, ENST00000336233.10
      Conserved Domains (1) summary
      PLN02872
      Location:38396
      PLN02872; triacylglycerol lipase
    2. NM_001127605.3NP_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
      P38571
      Conserved Domains (1) summary
      PLN02872
      Location:38396
      PLN02872; triacylglycerol lipase
    3. NM_001288979.2NP_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/Swiss-Prot
      P38571
      UniProtKB/TrEMBL
      A0A0A0MT32
      Related
      ENSP00000413019.2, ENST00000456827.5
      Conserved Domains (1) summary
      PLN02872
      Location:1280
      PLN02872; triacylglycerol lipase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      89213571..89251926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      PLN02872
      Location:38396
      PLN02872; triacylglycerol lipase

    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.
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