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

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase.
Title: Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase.
Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
Title: Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.
Title: Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
Title: First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.
Title: Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.
Lysosomal acid lipase regulates bioenergetic process during the cytodifferentiation of human periodontal ligament cells.
Title: Lysosomal acid lipase regulates bioenergetic process during the cytodifferentiation of human periodontal ligament cells.
Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells.
Title: Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells.
Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
Title: Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significance.
Title: Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significance.
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.
Title: Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cholesteryl ester storage disease MedGen: C0008384 OMIM: 278000 GeneReviews: Lysosomal Acid Lipase Deficiency	Compare labs
Wolman disease MedGen: C0043208 OMIM: 620151 GeneReviews: Lysosomal Acid Lipase Deficiency	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H84912 (e-PCR)
- UniSTS:35638

STS-M74775 (e-PCR)
- UniSTS:9806

WI-18793 (e-PCR)
- UniSTS:47494

RH80870 (e-PCR)
- UniSTS:86709

WI-18437 (e-PCR)
- UniSTS:23754

GDB:289781 (e-PCR)
- UniSTS:156386

LIPA_898.2 (e-PCR)
- UniSTS:280825

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

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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

EC 3.1.1.13

NP_001121077.1

EC 3.1.1.13

NP_001275908.1

EC 3.1.1.13

XP_024303791.1

EC 3.1.1.13

XP_054221916.1

EC 3.1.1.13

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

NG_008194.1 RefSeqGene

Range

5129..43332

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000235.4 → NP_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:38 → 396

PLN02872; triacylglycerol lipase
NM_001127605.3 → NP_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:38 → 396

PLN02872; triacylglycerol lipase
NM_001288979.2 → NP_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:1 → 280

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

89213572..89251775 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448023.2 → XP_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:38 → 396

PLN02872; triacylglycerol lipase

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

90097469..90135709 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365941.1 → XP_054221916.1 lysosomal acid lipase/cholesteryl ester hydrolase isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_110233.1: Suppressed sequence

Description

NR_110233.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.