| Gene Information | |
|---|---|
| Gene Name | LIPA |
| Organism | Homo sapiens (Human) |
| Gene Length | 399 |
| Protein Names | Lysosomal acid lipase/cholesteryl ester hydrolase (Acid cholesteryl ester hydrolase) (LAL) (EC 3.1.1.13) (Cholesteryl esterase) (Lipase A) (Sterol esterase) |
| Target Name | lysosomal acid lipase |
| Target Type | Successful target |
| Gene Age | 1488 ( ENSG00000107798 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | P38571 |
| Gene Card | LIPA |
| Uniprot ID | P38571 |
| Pfam | PF00561 |
| In ASD | no |
| Allosteric Prediction | yes (0.033808676) |
| Ortholog in Animals | Alpaca_ LIPA ( ortholog_one2one ) Dog_ LIPA ( ortholog_one2one ) GuineaPig_ LIPA ( ortholog_one2one ) Macaque_ LIPA ( ortholog_one2one ) Mouse_ Lipa ( ortholog_one2one ) Pig_ LIPA ( ortholog_one2one ) Rat_ Lipa ( ortholog_one2one ) Rabbit_ LIPA ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | LIPJ, LIPM, LIPF, LIPK, LIPN |
| Tissue | NA |
| Tissue Specificity | Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart. {ECO:0000269|PubMed:8112342}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6V7N (X-ray 2.62A ) |
| DBSNP | rs1051338 rs1051339 rs17850891 rs1423914418 rs1423914418 rs121965086 rs2228159 |
| Subcellular location [CC] | Lysosome {ECO:0000250|UniProtKB:Q64194}. |
| Mouse PG classification | NA |
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