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

Gene ID: 3988, updated on 24-Jun-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
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Genomic context

See LIPA in Genome Data Viewer
Location:
10q23.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89213572..89251775, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90097469..90135709, complement)
105.20220307 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 esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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 cellular lipid biosynthetic process 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
lipase A, lysosomal acid, cholesterol esterase
lysosomal acid lipase
sterol esterase
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_2023_10

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.