MGP Database

MGP001823

Record overview

MGPD ID	MGP001823
Gene ID	3988
Species	Homo sapiens (Human)
Gene Name	lipase A, lysosomal acid, cholesterol esterase
Gene Symbol	LIPA
Synonyms	LAL; CESD;
Alternate names	lysosomal acid lipase/cholesteryl ester hydrolase; acid cholesteryl ester hydrolase; cholesterol ester hydrolase; cholesteryl esterase; lysosomal acid lipase; sterol esterase;
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:

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

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:

Protein sequence is identical to GI:189083851 (mRNA isoform)

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

lysosomal acid lipase/cholesteryl ester hydrolase isoform 2

Refseq ID:	NP_001275908
Protein GI:	572876118
UniProt ID:	P38571
mRNA ID:	NM_001288979
Length:	283
RefSeq Status:

`MGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKL GRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKN YFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ`