LIPA
entrez
3988
canonical
uniprot
P38571
canonical
ensembl
ENSG00000107798
resolver
ensp
ENSP00000337354
resolver
ensp
ENSP00000360903
resolver
ensp
ENSP00000413019
resolver
ensp
ENSP00000538720
resolver
ensp
ENSP00000538722
resolver
ensp
ENSP00000538725
resolver
ensp
ENSP00000538727
resolver
ensp
ENSP00000538728
resolver
ensp
ENSP00000538729
resolver
ensp
ENSP00000538732
resolver
ensp
ENSP00000538733
resolver
ensp
ENSP00000538735
resolver
ensp
ENSP00000538736
resolver
ensp
ENSP00000538737
resolver
ensp
ENSP00000538738
resolver
ensp
ENSP00000538742
resolver
enst
ENST00000456827
resolver
genesymbol
LIPA
resolver
hgnc
HGNC:6617
resolver
uniprot
A0A0A0MT32
resolver
uniprot
B2RBH5
resolver
uniprot
D3DR29
resolver
uniprot
Q16529
resolver
uniprot
Q53H21
resolver
uniprot
Q5T074
resolver
uniprot
Q5T771
resolver
uniprot
Q96EJ0
resolver
uniprot_entry
A0A0A0MT32_HUMAN
resolver
uniprot_entry
LICH_HUMAN
resolver
uniprot_sec
B2RBH5
resolver
uniprot_sec
D3DR29
resolver
uniprot_sec
Q16529
resolver
uniprot_sec
Q53H21
resolver
uniprot_sec
Q5T074
resolver
uniprot_sec
Q5T771
resolver
uniprot_sec
Q96EJ0
resolver
amino_acid_sequence
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
uniprot
proteins
disease_involvement
DISEASE: Cholesteryl ester storage disease (CESD) [MIM:278000]: An autosomal recessive, mild form of lysosomal acid lipase deficiency characterized by accumulation of cholesteryl esters and triglycerides primarily in the liver. The clinical presentation is highly variable depending on residual levels of lysosomal acid lipase activity, and ranges from early onset of severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood. Age at onset varies from childhood to adulthood. {ECO:0000269|PubMed:8598644, ECO:0000269|PubMed:9633819}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Wolman disease (WOLD) [MIM:620151]: An autosomal recessive, fulminant form of lysosomal acid lipase deficiency manifesting in early infancy. It is characterized by massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. In addition, accumulation of cholesteryl esters in the zona reticularis of the adrenal gland leads to adrenal calcification and cortical insufficiency. Death occurs early in life from inanition. {ECO:0000269|PubMed:21963785, ECO:0000269|PubMed:8146180, ECO:0000269|PubMed:8956047}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.13
uniprot
proteins
function
FUNCTION: Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed:8112342, PubMed:9633819). Hydrolyzes triglycerides (1,2,3-triacylglycerol) and diglycerides (such as 1,2-diacylglycerol and 1,3-diacylglycerol) with preference for the acyl moieties at the sn-1 or sn-3 positions (PubMed:7204383, PubMed:8112342). {ECO:0000269|PubMed:15269241, ECO:0000269|PubMed:1718995, ECO:0000269|PubMed:7204383, ECO:0000269|PubMed:8112342, ECO:0000269|PubMed:9633819, ECO:0000305|PubMed:15269241, ECO:0000305|PubMed:8112342}.
uniprot
proteins
mass_dalton
45419
uniprot
proteins
mutagenesis
MUTAGEN 76; /note="K->R: No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:15269241"; MUTAGEN 77; /note="G->A: Significant loss of enzyme activity."; /evidence="ECO:0000269|PubMed:15269241
uniprot
proteins
post_translational_modification
PTM: Glycosylation is not essential for catalytic activity. {ECO:0000269|PubMed:8112342}.
uniprot
proteins
protein_family
AB hydrolase superfamily
uniprot
proteins
protein_family
Lipase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15269241
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1718995
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21963785
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7204383
uniprot
proteins
pubmed
8112342
uniprot
proteins
pubmed
8146180
uniprot
proteins
pubmed
8598644
uniprot
proteins
pubmed
8725147
uniprot
proteins
pubmed
8956047
uniprot
proteins
pubmed
9633819
uniprot
proteins
sequence_length
399
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000250|UniProtKB:Q64194}.
uniprot
proteins