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

    Gene ID: 3988, updated on 3-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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
      B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
      UniProtKB/TrEMBL
      A8K2H6, B3KRG8
      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
      B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
      UniProtKB/TrEMBL
      A8K2H6, B3KRG8
      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/TrEMBL
      A0A0A0MT32
      Related
      ENSP00000413019.2, ENST00000456827.5
      Conserved Domains (1) summary
      PLN02872
      Location:1280
      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_024448023.2XP_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:38396
      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_054365941.1XP_054221916.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform X1

      UniProtKB/TrEMBL
      A8K2H6

    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.