| Identification |
|---|
| HMDB Protein ID
| CDBP00221 |
| Secondary Accession Numbers
| Not Available |
| Name
| Lysosomal acid lipase/cholesteryl ester hydrolase |
| Description
| Not Available |
| Synonyms
|
- Acid cholesteryl ester hydrolase
- Cholesteryl esterase
- LAL
- Lipase A
- Sterol esterase
|
| Gene Name
| LIPA |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in lipid metabolic process |
| Specific 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.
|
| GO Classification
|
| Biological Process |
| sterol metabolic process |
| tissue remodeling |
| cell proliferation |
| lipid catabolic process |
| inflammatory response |
| fatty acid metabolic process |
| cytokine production |
| cell morphogenesis |
| lung development |
| homeostasis of number of cells within a tissue |
| Cellular Component |
| lysosome |
| Molecular Function |
| sterol esterase activity |
| lipase activity |
| Process |
| metabolic process |
| primary metabolic process |
| lipid metabolic process |
|
| Cellular Location
|
- Lysosome
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Lysosome | Not Available |  | | Bile Acid Biosynthesis |    |  | | Congenital Bile Acid Synthesis Defect Type II |    | Not Available | | Congenital Bile Acid Synthesis Defect Type III |    | Not Available | | Familial Hypercholanemia (FHCA) |    | Not Available |
|
| Gene Properties |
|---|
| Chromosome Location
| 10 |
| Locus
| 10q23.2-q23.3 |
| SNPs
| LIPA |
| Gene Sequence
|
>1200 bp
ATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAG
GGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATT
ATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATT
CTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCA
GTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCC
AACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGC
AGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGG
GCTTTCAGTTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTG
AATAAAACTGGCCAAGAACAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTATAGGT
TTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCCTG
GGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCA
GATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTTCTTCCCCAGAGTGCGTTTTTG
AAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTC
TGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATAT
ACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTACACTGGAGCCAGGCTGTT
AAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTAC
AACCAGAGTTATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGG
AGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTCAGATC
ACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCTTGACTTCATTTGGGGC
CTGGATGCCCCTTGGAGGCTTTATAATAAAATTATTAATCTAATGAGGAGATATCAGTGA
|
| Protein Properties |
|---|
| Number of Residues
| 399 |
| Molecular Weight
| 45418.71 |
| Theoretical pI
| 6.914 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Lysosomal acid lipase/cholesteryl ester hydrolase
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYI
LCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNS
RGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIG
FIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFL
KWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQI
TNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
|
| External Links |
|---|
| GenBank ID Protein
| 62897079 |
| UniProtKB/Swiss-Prot ID
| P38571 |
| UniProtKB/Swiss-Prot Entry Name
| LICH_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AK222760 |
| GeneCard ID
| LIPA |
| GenAtlas ID
| LIPA |
| HGNC ID
| HGNC:6617 |
| References |
|---|
| General References
| Not Available |