LIPA

Functionⁱ

Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. 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.

Catalytic activityⁱ

A steryl ester + H₂O = a sterol + a fatty acid.

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Active siteⁱ	174	Charge relay systemPROSITE-ProRule annotation		1
Active siteⁱ	374	Charge relay systemPROSITE-ProRule annotation		1

GO - Molecular functionⁱ

lipase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 1718995
sterol esterase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 1718995

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cell morphogenesis Source: Ensembl
cell proliferation Source: Ensembl
cytokine production Source: Ensembl
homeostasis of number of cells within a tissue Source: Ensembl
inflammatory response Source: Ensembl
lipid catabolic process Source: UniProtKB-KW
low-density lipoprotein particle clearance Source: Reactome
lung development Source: Ensembl
tissue remodeling Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Hydrolase
Biological process	Lipid degradation, Lipid metabolism

Enzyme and pathway databases

Reactomeⁱ	R-HSA-8964038 LDL clearance
SABIO-RKⁱ	P38571

Protein family/group databases

ESTHERⁱ	human-LIPA Acidic_Lipase
MEROPS protease database More...MEROPSⁱ	S33.017

Chemistry databases

SwissLipidsⁱ	SLP:000001261

SwissLipidsⁱ

SLP:000001261

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Lysosomal acid lipase/cholesteryl ester hydrolase (EC:3.1.1.13) Short name: Acid cholesteryl ester hydrolase Short name: LAL Alternative name(s): Cholesteryl esterase Lipase A Sterol esterase
Gene namesⁱ	Name:LIPA
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 10

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000107798.17
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6617 LIPA
MIMⁱ	613497 gene
neXtProtⁱ	NX_P38571

Keywords - Cellular componentⁱ

Lysosome

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Wolman disease (WOD)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year.

Cholesteryl ester storage disease (CESD)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_004248	129	H → P in CESD. 1 Publication		1
Natural variantⁱVAR_004249	129	H → R in CESD. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3988
MalaCards human disease database More...MalaCardsⁱ	LIPA
MIMⁱ	278000 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000107798
Orphanetⁱ	75234 Cholesteryl ester storage disease 75233 Wolman disease
PharmGKBⁱ	PA30391

Chemistry databases

ChEMBLⁱ	CHEMBL4184

ChEMBLⁱ

CHEMBL4184

Polymorphism and mutation databases

BioMutaⁱ	LIPA
DMDMⁱ	68067636

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 23	Sequence analysisAdd BLAST		23
ChainⁱPRO_0000017799	24 – 399	Lysosomal acid lipase/cholesteryl ester hydrolaseAdd BLAST		376

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	36	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	72	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	101	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	161	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	273	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	321	N-linked (GlcNAc...) asparagine1 Publication	1

Keywords - PTMⁱ

Glycoprotein

Proteomic databases

EPDⁱ	P38571
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P38571
PaxDbⁱ	P38571
PeptideAtlas More...PeptideAtlasⁱ	P38571
PRIDEⁱ	P38571
ProteomicsDBⁱ	55301 55302 [P38571-2]

PTM databases

iPTMnetⁱ	P38571
PhosphoSitePlusⁱ	P38571

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000107798 Expressed in 232 organ(s), highest expression level in visceral pleura
CleanExⁱ	HS_LIPA
ExpressionAtlasⁱ	P38571 baseline and differential
Genevisibleⁱ	P38571 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB034892 HPA057052

HPAⁱ

CAB034892
HPA057052

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	110176, 3 interactors
STRINGⁱ	9606.ENSP00000337354

Chemistry databases

BindingDBⁱ	P38571

BindingDBⁱ

P38571

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P38571
SMRⁱ	P38571
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	80 – 380	AB hydrolase-1Sequence analysisAdd BLAST		301

Sequence similaritiesⁱ

Belongs to the AB hydrolase superfamily. Lipase family.Curated

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	KOG2624 Eukaryota COG0596 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074328
HOVERGENⁱ	HBG006265
InParanoidⁱ	P38571
KEGG Orthology (KO) More...KOⁱ	K01052
OMAⁱ	CSEQPAY
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G09AX
PhylomeDBⁱ	P38571
TreeFamⁱ	TF315485

Family and domain databases

Gene3Dⁱ	3.40.50.1820, 1 hit
InterProⁱ	View protein in InterPro IPR029058 AB_hydrolase IPR000073 AB_hydrolase_1 IPR025483 Lipase_euk
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00561 Abhydrolase_1, 1 hit
PIRSFⁱ	PIRSF000862 Steryl_ester_lip, 1 hit
SUPFAMⁱ	SSF53474 SSF53474, 1 hit
PROSITEⁱ	View protein in PROSITE PS00120 LIPASE_SER, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.ⁱShow all

Isoform 1 (identifier: P38571-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKMRFLGLVV CLVLWTLHSE GSGGKLTAVD PETNMNVSEI ISYWGFPSEE 
        60         70         80         90        100
YLVETEDGYI LCLNRIPHGR KNHSDKGPKP VVFLQHGLLA DSSNWVTNLA 
       110        120        130        140        150
NSSLGFILAD AGFDVWMGNS RGNTWSRKHK TLSVSQDEFW AFSYDEMAKY 
       160        170        180        190        200
DLPASINFIL NKTGQEQVYY VGHSQGTTIG FIAFSQIPEL AKRIKMFFAL 
       210        220        230        240        250
GPVASVAFCT SPMAKLGRLP DHLIKDLFGD KEFLPQSAFL KWLGTHVCTH 
       260        270        280        290        300
VILKELCGNL CFLLCGFNER NLNMSRVDVY TTHSPAGTSV QNMLHWSQAV 
       310        320        330        340        350
KFQKFQAFDW GSSAKNYFHY NQSYPPTYNV KDMLVPTAVW SGGHDWLADV 
       360        370        380        390 
YDVNILLTQI TNLVFHESIP EWEHLDFIWG LDAPWRLYNK IINLMRKYQ

Length:399

Mass (Da):45,419

Last modified:June 21, 2005 - v2

Checksum:ⁱAC75A7909DA9195A

GO

Isoform 2 (identifier: P38571-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-56: Missing.
57-76: DGYILCLNRIPHGRKNHSDK → MACLEFVPFDVQMCLEFLPS

« Hide

        10         20         30         40         50
MACLEFVPFD VQMCLEFLPS GPKPVVFLQH GLLADSSNWV TNLANSSLGF 
        60         70         80         90        100
ILADAGFDVW MGNSRGNTWS RKHKTLSVSQ DEFWAFSYDE MAKYDLPASI 
       110        120        130        140        150
NFILNKTGQE QVYYVGHSQG TTIGFIAFSQ IPELAKRIKM FFALGPVASV 
       160        170        180        190        200
AFCTSPMAKL GRLPDHLIKD LFGDKEFLPQ SAFLKWLGTH VCTHVILKEL 
       210        220        230        240        250
CGNLCFLLCG FNERNLNMSR VDVYTTHSPA GTSVQNMLHW SQAVKFQKFQ 
       260        270        280        290        300
AFDWGSSAKN YFHYNQSYPP TYNVKDMLVP TAVWSGGHDW LADVYDVNIL 
       310        320        330        340 
LTQITNLVFH ESIPEWEHLD FIWGLDAPWR LYNKIINLMR KYQ

Note: No experimental confirmation available.

Show »

Length:343

Mass (Da):39,112

Checksum:ⁱ67B2EB1703A732FC

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation
Q5T073	Q5T073_HUMAN	Lysosomal acid lipase/cholesteryl e... Lysosomal acid lipase/cholesteryl ester hydrolase	LIPA	290	Annotation score:
A0A0A0MT32	A0A0A0MT32_HUMAN	Lysosomal acid lipase/cholesteryl e... Lysosomal acid lipase/cholesteryl ester hydrolase	LIPA	283	Annotation score:
Q5T770	Q5T770_HUMAN	Lysosomal acid lipase/cholesteryl e... Lysosomal acid lipase/cholesteryl ester hydrolase	LIPA	219	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	397	K → R in BAD96480 (Ref. 5) Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_004247	16	T → P3 PublicationsCorresponds to variant dbSNP:rs1051338EnsemblClinVar.	1
Natural variantⁱVAR_026523	23	G → R1 PublicationCorresponds to variant dbSNP:rs1051339EnsemblClinVar.	1
Natural variantⁱVAR_026524	29	V → L1 PublicationCorresponds to variant dbSNP:rs17850891Ensembl.	1
Natural variantⁱVAR_004248	129	H → P in CESD. 1 Publication	1
Natural variantⁱVAR_004249	129	H → R in CESD. 1 Publication	1
Natural variantⁱVAR_004250	200	L → P in CESD and WOD. 1 PublicationCorresponds to variant dbSNP:rs121965086EnsemblClinVar.	1
Natural variantⁱVAR_049821	228	F → S. Corresponds to variant dbSNP:rs2228159EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_018596	1 – 56	Missing in isoform 2. CuratedAdd BLAST		56
Alternative sequenceⁱVSP_018597	57 – 76	DGYIL…NHSDK → MACLEFVPFDVQMCLEFLPS in isoform 2. CuratedAdd BLAST		20

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M74775 mRNA Translation: AAA59519.1 U04285 U04293 Genomic DNA Translation: AAB60327.1 X76488 mRNA Translation: CAA54026.1 Z31690 mRNA Translation: CAA83495.1 U08464 mRNA Translation: AAB60328.1 AK314665 mRNA Translation: BAG37222.1 AK222760 mRNA Translation: BAD96480.1 AL353751 Genomic DNA No translation available. AL353146 Genomic DNA No translation available. AL513533 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW50140.1 CH471066 Genomic DNA Translation: EAW50141.1 CH471066 Genomic DNA Translation: EAW50142.1 BC012287 mRNA Translation: AAH12287.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7401.1 [P38571-1]
PIRⁱ	G01416 S41408
NCBI Reference Sequences More...RefSeqⁱ	NP_000226.2, NM_000235.3 [P38571-1] NP_001121077.1, NM_001127605.2 [P38571-1] NP_001275908.1, NM_001288979.1
UniGeneⁱ	Hs.643030

Genome annotation databases

Ensemblⁱ	ENST00000336233; ENSP00000337354; ENSG00000107798 [P38571-1] ENST00000371837; ENSP00000360903; ENSG00000107798 [P38571-2]
GeneIDⁱ	3988
KEGGⁱ	hsa:3988
UCSC genome browser More...UCSCⁱ	uc001kga.6 human [P38571-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P38571	Lipase		PANTR		399	UniRef100_P38571
Lipase		PANPA		399
Lipase		GORGO		399
Lysosomal acid lipase/cholesteryl ester hydrolase (Fragment)		HUMAN		290
LIPA isoform 8 (Fragment)		PANTR		290
+4

Protein	Similar proteins		Species	Score	Length	Source
P38571	Lysosomal acid lipase/cholesteryl ester hydrolase		MACFA		399	UniRef90_P38571
Lipase		PANTR		399
Lipase		PANPA		399
Lipase		GORGO		399
Lysosomal acid lipase/cholesteryl ester hydrolase (Fragment)		HUMAN		290
+50

Protein	Similar proteins		Species	Score	Length	Source
P38571	Lysosomal acid lipase/cholesteryl ester hydrolase		MACFA		399	UniRef50_P38571
Lipase member J		HUMAN		366
Lipase		PANTR		399
Lipase		PANPA		399
Lipase		GORGO		399
+146

Entry informationⁱ

Entry nameⁱ	LICH_HUMAN
Accessionⁱ	P38571Primary (citable) accession number: P38571 Secondary accession number(s): B2RBH5 Q96EJ0
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1994
	Last sequence update:	June 21, 2005
	Last modified:	September 12, 2018
	This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Direct protein sequencing, Reference proteome

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UniRef

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Annotation systems

Supporting data

UniProtKB - P38571 (LICH_HUMAN)

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Lysosomal acid lipase/cholesteryl ester hydrolase

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

Chemistry databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Lysosome

Lysosome

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ