Lipa lysosomal acid lipase A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lipaprovided by MGI
Official Full Name: lysosomal acid lipase Aprovided by MGI
Primary source: MGI:MGI:96789
See related: Ensembl:ENSMUSG00000024781 AllianceGenome:MGI:96789
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lal; Lip1; Lip-1
Summary: Predicted to enable sterol ester esterase activity. Acts upstream of or within several processes, including ATP metabolic process; hematopoietic or lymphoid organ development; and hemopoiesis. Is active in lysosome. Is expressed in several structures, including adrenal cortex zone; alimentary system; brain; hemolymphoid system; and metanephros. Used to study Wolman disease and lysosomal acid lipase deficiency. Human ortholog(s) of this gene implicated in Wolman disease and cholesterol ester storage disease. Orthologous to human LIPA (lipase A, lysosomal acid type). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in kidney adult (RPKM 86.1), liver adult (RPKM 55.5) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C1; 19 29.7 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (34469716..34504874, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (34492316..34527474, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Limited Alleviation of Lysosomal Acid Lipase Deficiency by Deletion of Matrix Metalloproteinase 12.
Title: Limited Alleviation of Lysosomal Acid Lipase Deficiency by Deletion of Matrix Metalloproteinase 12.
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.
Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice.
Title: Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice.
Hepatic lysosomal acid lipase overexpression worsens hepatic inflammation in mice fed a Western diet.
Title: Hepatic lysosomal acid lipase overexpression worsens hepatic inflammation in mice fed a Western diet.
Hepatic lysosomal acid lipase drives the autophagy-lysosomal response and alleviates cholesterol metabolic disorder in ApoE deficient mice.
Title: Hepatic lysosomal acid lipase drives the autophagy-lysosomal response and alleviates cholesterol metabolic disorder in ApoE deficient mice.
Defective Lysosomal Lipolysis Causes Prenatal Lipid Accumulation and Exacerbates Immediately after Birth.
Title: Defective Lysosomal Lipolysis Causes Prenatal Lipid Accumulation and Exacerbates Immediately after Birth.
Low LAL (Lysosomal Acid Lipase) Expression by Smooth Muscle Cells Relative to Macrophages as a Mechanism for Arterial Foam Cell Formation.
Title: Low LAL (Lysosomal Acid Lipase) Expression by Smooth Muscle Cells Relative to Macrophages as a Mechanism for Arterial Foam Cell Formation.
Lysosomal Acid Lipase Drives Adipocyte Cholesterol Homeostasis and Modulates Lipid Storage in Obesity, Independent of Autophagy.
Title: Lysosomal Acid Lipase Drives Adipocyte Cholesterol Homeostasis and Modulates Lipid Storage in Obesity, Independent of Autophagy.
Data provide evidence that hepatocyte-specific LAL deficiency is sufficient to alter whole-body lipid and energy homeostasis in mice. Hepatic LAL plays a pivotal role by preventing liver damage and maintaining lipid and energy homeostasis, especially during high lipid availability.
Title: Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation.
Lysosomal acid lipase has a critical role in promoting both macrophage and whole-body reverse cholesterol transport.
Title: LAL (Lysosomal Acid Lipase) Promotes Reverse Cholesterol Transport In Vitro and In Vivo.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Lipa (e-PCR), detects polymorphism
- UniSTS:546843

AA960673 (e-PCR)
- UniSTS:160825

D13S1299 (e-PCR), detects polymorphism
- UniSTS:34494

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables lipase activity	ISO Inferred from Sequence Orthology more info
enables sterol ester esterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sterol ester esterase activity	ISO Inferred from Sequence Orthology more info
enables sterol ester esterase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ATP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within acute inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adaptive thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone marrow development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell proliferation in bone marrow	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol storage	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cholesterol storage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within common myeloid progenitor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within defecation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within energy homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fat cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fatty acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells within a tissue	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid import into cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid storage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipoprotein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macrophage homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level chemical homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myeloid cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neutral lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory burst involved in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to cold	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to dietary excess	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to lipid	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to rapamycin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to vitamin A	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinoid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within small GTPase-mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spleen development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tissue remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within triglyceride metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within triglyceride-rich lipoprotein particle clearance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vitamin A metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in fibrillar center	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lysosomal acid lipase/cholesteryl ester hydrolase

Names: acid cholesteryl ester hydrolase; cholesteryl esterase; diacylglycerol lipase; lipase A; lysosomal acid lipase 1; sterol esterase; triacylglycerol ester hydrolase; triacylglycerol lipase

NP_001104570.1

EC 3.1.1.13

NP_067435.3

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.

mRNA and Protein(s)

NM_001111100.1 → NP_001104570.1 lysosomal acid lipase/cholesteryl ester hydrolase precursor

See identical proteins and their annotated locations for NP_001104570.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AA881350, AK164007, AK169567, BE198807, BE449010

Consensus CDS

CCDS29760.1

UniProtKB/Swiss-Prot

Q8C2G7, Q9Z0M5

UniProtKB/TrEMBL

Q3TEL5, Q6PDR1

Related

ENSMUSP00000136967.2, ENSMUST00000178114.2

Conserved Domains (3) summary

PLN02872
Location:6 → 394

PLN02872; triacylglycerol lipase

pfam04083
Location:35 → 96

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:78 → 192

Abhydrolase_5; Alpha/beta hydrolase family
NM_021460.3 → NP_067435.3 lysosomal acid lipase/cholesteryl ester hydrolase precursor

See identical proteins and their annotated locations for NP_067435.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AA881350, AK149791, AK164007, AK169567, BE198807, BE449010

Consensus CDS

CCDS29760.1

UniProtKB/Swiss-Prot

Q8C2G7, Q9Z0M5

UniProtKB/TrEMBL

Q3TEL5, Q6PDR1

Related

ENSMUSP00000053270.9, ENSMUST00000049572.15

Conserved Domains (3) summary

PLN02872
Location:6 → 394

PLN02872; triacylglycerol lipase

pfam04083
Location:35 → 96

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:78 → 192

Abhydrolase_5; Alpha/beta hydrolase family