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

Gene ID: 3988, updated on 4-Jan-2025

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
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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_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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 58
Process Evidence Code Pubs
involved_in ATP biosynthetic process  
involved_in T cell apoptotic process  
involved_in T cell differentiation  
involved_in T cell proliferation  
involved_in TOR signaling  
involved_in acute inflammatory response  
involved_in adaptive thermogenesis  
involved_in adipose tissue development  
involved_in blood vessel endothelial cell differentiation  
involved_in bone marrow development  
involved_in cell morphogenesis  
involved_in cell proliferation in bone marrow  
involved_in cholesterol biosynthetic process  
involved_in cholesterol efflux  
involved_in cholesterol storage  
involved_in common myeloid progenitor cell proliferation  
involved_in defecation  
involved_in determination of adult lifespan  
involved_in endocytosis  
involved_in endosome to lysosome transport  
involved_in endothelial cell proliferation  
involved_in fat cell proliferation  
involved_in fatty acid metabolic process  
involved_in gene expression  
involved_in glucose metabolic process  
involved_in glycolytic process  
involved_in hematopoietic progenitor cell differentiation  
involved_in homeostasis of number of cells within a tissue  
involved_in lipid catabolic process  
involved_in lipid homeostasis  
involved_in lipid import into cell  
involved_in lipoprotein catabolic process  
involved_in liver morphogenesis  
involved_in low-density lipoprotein particle clearance  
involved_in lung development  
involved_in lysosome organization  
involved_in macrophage homeostasis  
involved_in mitochondrion organization  
involved_in mitotic cell cycle  
involved_in multicellular organismal-level chemical homeostasis  
involved_in myeloid cell apoptotic process  
involved_in myeloid cell differentiation  
involved_in positive regulation of T cell receptor signaling pathway  
involved_in reactive oxygen species biosynthetic process  
involved_in regulation of mitochondrial membrane potential  
involved_in respiratory burst involved in inflammatory response  
involved_in response to cold  
involved_in response to dietary excess  
involved_in response to rapamycin  
involved_in response to vitamin A  
involved_in response to xenobiotic stimulus  
involved_in small GTPase-mediated signal transduction  
involved_in spleen development  
involved_in sterol metabolic process  
involved_in tissue remodeling  
involved_in triglyceride metabolic process  
involved_in triglyceride-rich lipoprotein particle clearance  
involved_in vitamin A metabolic process  
Items 1 - 25 of 58
Component Evidence Code Pubs
located_in cytosol  
located_in fibrillar center  
is_active_in intracellular membrane-bounded organelle  
located_in intracellular membrane-bounded organelle  
located_in lysosomal lumen  
located_in lysosome  
located_in nucleoplasm  

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)

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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

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