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Protein

Lysosomal acid lipase/cholesteryl ester hydrolase

Gene

LIPA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei174Charge relay systemPROSITE-ProRule annotation1
Active sitei374Charge relay systemPROSITE-ProRule annotation1

GO - Molecular functioni

  • lipase activity Source: UniProtKB
  • sterol esterase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-8964038 LDL clearance
SABIO-RKiP38571

Protein family/group databases

ESTHERihuman-LIPA Acidic_Lipase
MEROPSiS33.017

Chemistry databases

SwissLipidsiSLP: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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107798.17
HGNCiHGNC:6617 LIPA
MIMi613497 gene
neXtProtiNX_P38571

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.
See also OMIM:278000
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.
See also OMIM:278000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004248129H → P in CESD. 1 Publication1
Natural variantiVAR_004249129H → R in CESD. 1 PublicationCorresponds to variant dbSNP:rs1423914418Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3988
MalaCardsiLIPA
MIMi278000 phenotype
OpenTargetsiENSG00000107798
Orphaneti75234 Cholesteryl ester storage disease
75233 Wolman disease
PharmGKBiPA30391

Chemistry databases

ChEMBLiCHEMBL4184

Polymorphism and mutation databases

BioMutaiLIPA
DMDMi68067636

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000001779924 – 399Lysosomal acid lipase/cholesteryl ester hydrolaseAdd BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi36N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi72N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi101N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi161N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi273N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi321N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiP38571
MaxQBiP38571
PaxDbiP38571
PeptideAtlasiP38571
PRIDEiP38571
ProteomicsDBi55301
55302 [P38571-2]

PTM databases

GlyConnecti1475
iPTMnetiP38571
PhosphoSitePlusiP38571

Expressioni

Gene expression databases

BgeeiENSG00000107798 Expressed in 232 organ(s), highest expression level in visceral pleura
CleanExiHS_LIPA
ExpressionAtlasiP38571 baseline and differential
GenevisibleiP38571 HS

Organism-specific databases

HPAiCAB034892
HPA057052

Interactioni

Protein-protein interaction databases

BioGridi110176, 3 interactors
STRINGi9606.ENSP00000337354

Chemistry databases

BindingDBiP38571

Structurei

3D structure databases

ProteinModelPortaliP38571
SMRiP38571
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini80 – 380AB hydrolase-1Sequence analysisAdd BLAST301

Sequence similaritiesi

Belongs to the AB hydrolase superfamily. Lipase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2624 Eukaryota
COG0596 LUCA
GeneTreeiENSGT00550000074328
HOVERGENiHBG006265
InParanoidiP38571
KOiK01052
OMAiCSEQPAY
OrthoDBiEOG091G09AX
PhylomeDBiP38571
TreeFamiTF315485

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000073 AB_hydrolase_1
IPR025483 Lipase_euk
PfamiView protein in Pfam
PF00561 Abhydrolase_1, 1 hit
PIRSFiPIRSF000862 Steryl_ester_lip, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView 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. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

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

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.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T073Q5T073_HUMAN
Lysosomal acid lipase/cholesteryl e...
LIPA
290Annotation score:
A0A0A0MT32A0A0A0MT32_HUMAN
Lysosomal acid lipase/cholesteryl e...
LIPA
283Annotation score:
Q5T770Q5T770_HUMAN
Lysosomal acid lipase/cholesteryl e...
LIPA
219Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti397K → R in BAD96480 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00424716T → P3 PublicationsCorresponds to variant dbSNP:rs1051338EnsemblClinVar.1
Natural variantiVAR_02652323G → R1 PublicationCorresponds to variant dbSNP:rs1051339EnsemblClinVar.1
Natural variantiVAR_02652429V → L1 PublicationCorresponds to variant dbSNP:rs17850891Ensembl.1
Natural variantiVAR_004248129H → P in CESD. 1 Publication1
Natural variantiVAR_004249129H → R in CESD. 1 PublicationCorresponds to variant dbSNP:rs1423914418Ensembl.1
Natural variantiVAR_004250200L → P in CESD and WOD. 1 PublicationCorresponds to variant dbSNP:rs121965086EnsemblClinVar.1
Natural variantiVAR_049821228F → S. Corresponds to variant dbSNP:rs2228159EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0185961 – 56Missing in isoform 2. CuratedAdd BLAST56
Alternative sequenceiVSP_01859757 – 76DGYIL…NHSDK → MACLEFVPFDVQMCLEFLPS in isoform 2. CuratedAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74775 mRNA Translation: AAA59519.1
U04285
, U04286, U04287, U04288, U04290, U04291, U04292, 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
CCDSiCCDS7401.1 [P38571-1]
PIRiG01416
S41408
RefSeqiNP_000226.2, NM_000235.3 [P38571-1]
NP_001121077.1, NM_001127605.2 [P38571-1]
NP_001275908.1, NM_001288979.1
UniGeneiHs.643030

Genome annotation databases

EnsembliENST00000336233; ENSP00000337354; ENSG00000107798 [P38571-1]
ENST00000371837; ENSP00000360903; ENSG00000107798 [P38571-2]
GeneIDi3988
KEGGihsa:3988
UCSCiuc001kga.6 human [P38571-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74775 mRNA Translation: AAA59519.1
U04285
, U04286, U04287, U04288, U04290, U04291, U04292, 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
CCDSiCCDS7401.1 [P38571-1]
PIRiG01416
S41408
RefSeqiNP_000226.2, NM_000235.3 [P38571-1]
NP_001121077.1, NM_001127605.2 [P38571-1]
NP_001275908.1, NM_001288979.1
UniGeneiHs.643030

3D structure databases

ProteinModelPortaliP38571
SMRiP38571
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110176, 3 interactors
STRINGi9606.ENSP00000337354

Chemistry databases

BindingDBiP38571
ChEMBLiCHEMBL4184
SwissLipidsiSLP:000001261

Protein family/group databases

ESTHERihuman-LIPA Acidic_Lipase
MEROPSiS33.017

PTM databases

GlyConnecti1475
iPTMnetiP38571
PhosphoSitePlusiP38571

Polymorphism and mutation databases

BioMutaiLIPA
DMDMi68067636

Proteomic databases

EPDiP38571
MaxQBiP38571
PaxDbiP38571
PeptideAtlasiP38571
PRIDEiP38571
ProteomicsDBi55301
55302 [P38571-2]

Protocols and materials databases

DNASUi3988
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336233; ENSP00000337354; ENSG00000107798 [P38571-1]
ENST00000371837; ENSP00000360903; ENSG00000107798 [P38571-2]
GeneIDi3988
KEGGihsa:3988
UCSCiuc001kga.6 human [P38571-1]

Organism-specific databases

CTDi3988
DisGeNETi3988
EuPathDBiHostDB:ENSG00000107798.17
GeneCardsiLIPA
HGNCiHGNC:6617 LIPA
HPAiCAB034892
HPA057052
MalaCardsiLIPA
MIMi278000 phenotype
613497 gene
neXtProtiNX_P38571
OpenTargetsiENSG00000107798
Orphaneti75234 Cholesteryl ester storage disease
75233 Wolman disease
PharmGKBiPA30391
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2624 Eukaryota
COG0596 LUCA
GeneTreeiENSGT00550000074328
HOVERGENiHBG006265
InParanoidiP38571
KOiK01052
OMAiCSEQPAY
OrthoDBiEOG091G09AX
PhylomeDBiP38571
TreeFamiTF315485

Enzyme and pathway databases

ReactomeiR-HSA-8964038 LDL clearance
SABIO-RKiP38571

Miscellaneous databases

ChiTaRSiLIPA human
GenomeRNAii3988
PROiPR:P38571
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107798 Expressed in 232 organ(s), highest expression level in visceral pleura
CleanExiHS_LIPA
ExpressionAtlasiP38571 baseline and differential
GenevisibleiP38571 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000073 AB_hydrolase_1
IPR025483 Lipase_euk
PfamiView protein in Pfam
PF00561 Abhydrolase_1, 1 hit
PIRSFiPIRSF000862 Steryl_ester_lip, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00120 LIPASE_SER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiLICH_HUMAN
AccessioniPrimary (citable) accession number: P38571
Secondary accession number(s): B2RBH5
, D3DR29, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: June 21, 2005
Last modified: October 10, 2018
This is version 176 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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