Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

LIPA

contributors: mct - updated : 27-12-2018

HGNC name	lipase A, lysosomal acid, cholesterol esterase
HGNC id	6617

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001127605 10 - 2669 NP_001121077 - 399 - 1994 8112342 NM_000235 10 - 2654 NP_000226 - 399 - 1994 8112342 NM_001288979 8 - 2545 NP_001275908 - 283 - 1994 8112342

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly   vessel       highly Digestive intestine small intestine     predominantly   intestine large intestine colon   moderately   liver       moderately   stomach       highly Lymphoid/Immune lymph node       moderately Nervous brain       moderately Reproductive female system placenta     highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone       Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune macrophage Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES		acid
STRUCTURE

motifs/domains

conjugated

GlycoP , RiboP

HOMOLOGY

interspecies	ortholog to rattus Lipa
	ortholog to murine Lip1

Homologene

FAMILY	AB hydrolase superfamily
	lipase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	playing a crucial role in the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles
	being important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation
	involved in cholesterol metabolism and responsible for catalysing the hydrolysis of cholesteryl esters and triglycerides inside the lysosome (von Trotha 2006)
	having a role in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters (Wang 2008)
	serine hydrolase which hydrolyzes cholesteryl ester and triglycerides delivered to the lysosomes into free cholesterol and free fatty acids
	plays a critical role in regulating mesenchymal stem cells (MSCs) ability to stimulate tumor growth and metastasis, which provides a mechanistic basis for targeting LIPA in MSCs to reduce the risk of cancer metastasis
	WIPF3 and LIPA, both of which are expressed in the macrophages are involved in pathological abdominal aortic aneurysm (AAA)
	hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein
	essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	potential role of LIPA as a target to increase ABCA1 expression and HDL formation at the cellular and clinical level
	FOXO1 is upregulated by nutrient restriction (NR) in adipocytes and exerts the transcriptional control of lipid catabolism via the induction of lysosomal acid lipase (LIPA)

cell & other

REGULATION

Other

targeted to the lysosome by M6P receptor mediated pathway

ASSOCIATED DISORDERS

corresponding disease(s)

LIPAD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in non-alcoholic steatohepatitis, which is the major cause of cryptogenic cirrhosis

Susceptibility

to abdominal aortic aneurysm (AAA) to coronary artery disease (CAD) to metabolic syndrome

Variant & Polymorphism SNP	rs1051338 and rs2246942 increased the risk of abdominal aortic aneurysm (AAA)
	rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD
	LIPA rs1412444 is associated with metabolic syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deletion of sterol O-acyltransferase 2 (Soat2) function in mice deficient in lysosomal acid lipase (Lipa) dramatically reduces esterified cholesterol sequestration in the small intestine and liver