LMPD Database

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LMP000369

Record overview

LMPD IDLMP000369
Gene ID3988
SpeciesHomo sapiens (Human)
Gene Namelipase A, lysosomal acid, cholesterol esterase
Gene SymbolLIPA
SynonymsCESD; LAL
Alternate nameslysosomal acid lipase/cholesteryl ester hydrolase; sterol esterase; cholesteryl esterase; lysosomal acid lipase; cholesterol ester hydrolase; acid cholesteryl ester hydrolase
Chromosome10
Map Location10q23.2-q23.3
EC Number3.1.1.13
SummaryThis 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]
OrthologsView 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
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLA
NSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFAL
GPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
 
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
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLA
NSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFAL
GPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
 
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: 
GKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGN
TWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHL
IKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQS
YPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ

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: 
GKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGN
TWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHL
IKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQS
YPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ