Gene/Proteome Database (LMPD)

LMPD ID
LMP000369
Gene ID
3988
Species
Homo sapiens (Human)
Gene Name
lipase A, lysosomal acid, cholesterol esterase
Gene Symbol
LIPA
Synonyms
CESD; LAL
Alternate Names
lysosomal acid lipase/cholesteryl ester hydrolase; sterol esterase; cholesteryl esterase; lysosomal acid lipase; cholesterol ester hydrolase; acid cholesteryl ester hydrolase
Chromosome
10
Map Location
10q23.2-q23.3
EC Number
3.1.1.13
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]
Orthologs
View orthologs and multiple alignments for LIPA

Proteins

lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor
Refseq ID NP_001121077
Protein GI 189083851
UniProt ID P38571
mRNA ID NM_001127605
Length 399
RefSeq Status REVIEWED
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor
Refseq ID NP_000226
Protein GI 51317399
UniProt ID P38571
mRNA ID NM_000235
Length 399
RefSeq Status REVIEWED
Protein sequence is identical to GI:189083851 (mRNA isoform)
lysosomal acid lipase/cholesteryl ester hydrolase isoform 2
Refseq ID NP_001275908
Protein GI 189083851
UniProt ID P38571
mRNA ID NM_001288979
Length 399
RefSeq Status REVIEWED
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
sig_peptide: 1..23 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2577 peptide sequence: MKMRFLGLVVCLVLWTLHSEGSG mat_peptide: 24..399 product: lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 calculated_mol_wt: 42860 peptide sequence: GKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ sig_peptide: 1..23 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2577 peptide sequence: MKMRFLGLVVCLVLWTLHSEGSG mat_peptide: 24..399 product: lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 calculated_mol_wt: 42860 peptide sequence: GKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ

Gene Information

Entrez Gene ID
3988
Gene Name
lipase A, lysosomal acid, cholesterol esterase
Gene Symbol
LIPA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0005764 TAS:ProtInc C lysosome
GO:0016298 IDA:UniProtKB F lipase activity
GO:0004771 IDA:UniProtKB F sterol esterase activity
GO:0000902 IEA:Ensembl P cell morphogenesis
GO:0008283 IEA:Ensembl P cell proliferation
GO:0001816 IEA:Ensembl P cytokine production
GO:0048873 IEA:Ensembl P homeostasis of number of cells within a tissue
GO:0006954 IEA:Ensembl P inflammatory response
GO:0016042 IEA:UniProtKB-KW P lipid catabolic process
GO:0030324 IEA:Ensembl P lung development
GO:0048771 IEA:Ensembl P tissue remodeling

KEGG Pathway Links

KEGG Pathway ID Description
hsa04142 Lysosome
ko04142 Lysosome
hsa00100 Steroid biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR029058 Alpha/Beta hydrolase fold
IPR000073 Alpha/beta hydrolase fold-1
IPR025483 Lipase, eukaryotic
IPR006693 Partial AB-hydrolase lipase domain

UniProt Annotations

Entry Information

Gene Name
lipase A, lysosomal acid, cholesterol esterase
Protein Entry
LICH_HUMAN
UniProt ID
P38571
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P38571-1; Sequence=Displayed; Name=2; IsoId=P38571-2; Sequence=VSP_018596, VSP_018597; Note=No experimental confirmation available.;
Catalytic Activity A steryl ester + H(2)O = a sterol + a fatty acid.
Disease Cholesteryl ester storage disease (CESD) [MIM
Disease Wolman disease (WOD) [MIM
Function 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.
Similarity Belongs to the AB hydrolase superfamily. Lipase family.
Subcellular Location Lysosome.

Identical and Related Proteins

Unique RefSeq proteins for LMP000369 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
189083851 RefSeq NP_001121077 399 lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor
189083851 RefSeq NP_001275908 399 lysosomal acid lipase/cholesteryl ester hydrolase isoform 2

Identical Sequences to LMP000369 proteins

Reference Database Accession Length Protein Name
GI:189083851 GenBank JAA16197.1 399 lipase A, lysosomal acid, cholesterol esterase [Pan troglodytes]
GI:189083851 GenBank JAA16197.1 399 lipase A, lysosomal acid, cholesterol esterase [Pan troglodytes]
GI:189083851 GenBank JAA30766.1 399 lipase A, lysosomal acid, cholesterol esterase [Pan troglodytes]
GI:189083851 GenBank JAA30766.1 399 lipase A, lysosomal acid, cholesterol esterase [Pan troglodytes]
GI:189083851 GenBank JAA35490.1 399 lipase A, lysosomal acid, cholesterol esterase [Pan troglodytes]
GI:189083851 GenBank JAA35490.1 399 lipase A, lysosomal acid, cholesterol esterase [Pan troglodytes]
GI:189083851 GenBank AHD70941.1 399 Sequence 4409 from patent US 8586006
GI:189083851 GenBank AHD70941.1 399 Sequence 4409 from patent US 8586006
GI:189083851 RefSeq XP_004049807.1 399 PREDICTED: lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 [Gorilla gorilla gorilla]
GI:189083851 RefSeq XP_004049807.1 399 PREDICTED: lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 [Gorilla gorilla gorilla]
GI:189083851 RefSeq XP_004049808.1 399 PREDICTED: lysosomal acid lipase/cholesteryl ester hydrolase isoform 2 [Gorilla gorilla gorilla]
GI:189083851 RefSeq XP_004049808.1 399 PREDICTED: lysosomal acid lipase/cholesteryl ester hydrolase isoform 2 [Gorilla gorilla gorilla]

Related Sequences to LMP000369 proteins

Reference Database Accession Length Protein Name
GI:189083851 DBBJ BAD96480.1 399 lipase A precursor variant, partial [Homo sapiens]
GI:189083851 DBBJ BAD96480.1 399 lipase A precursor variant, partial [Homo sapiens]
GI:189083851 DBBJ BAG37222.1 399 unnamed protein product [Homo sapiens]
GI:189083851 DBBJ BAG37222.1 399 unnamed protein product [Homo sapiens]
GI:189083851 GenBank ABW60418.1 399 Sequence 61 from patent US 7276593
GI:189083851 GenBank ABW60418.1 399 Sequence 61 from patent US 7276593
GI:189083851 GenBank ABW60420.1 399 Sequence 63 from patent US 7276593
GI:189083851 GenBank ABW60420.1 399 Sequence 63 from patent US 7276593
GI:189083851 GenBank ABW60421.1 399 Sequence 64 from patent US 7276593
GI:189083851 GenBank ABW60421.1 399 Sequence 64 from patent US 7276593
GI:189083851 GenBank AEN51631.1 399 Sequence 411 from patent US 8003334
GI:189083851 GenBank AEN51631.1 399 Sequence 411 from patent US 8003334