| Gene Information | |
|---|---|
| Gene Name | ASAH1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 395 |
| Protein Names | Acid ceramidase (AC) (ACDase) (Acid CDase) (EC 3.5.1.23) (Acylsphingosine deacylase) (N-acylethanolamine hydrolase ASAH1) (EC 3.5.1.-) (N-acylsphingosine amidohydrolase) (Putative 32 kDa heart protein) (PHP32) [Cleaved into: Acid ceramidase subunit alpha; Acid ceramidase subunit beta] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 950 ( ENSG00000104763 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | Q13510 |
| Gene Card | ASAH1 |
| Uniprot ID | Q13510 |
| Pfam | PF02275; PF15508 |
| In ASD | yes |
| Allosteric Prediction | yes (0.849758917) |
| Ortholog in Animals | Alpaca_ ASAH1 ( ortholog_one2one ) GuineaPig_ ASAH1 ( ortholog_one2one ) Macaque_ ASAH1 ( ortholog_one2one ) Mouse_ Asah1 ( ortholog_one2one ) Pig_ ASAH1 ( ortholog_one2one ) Rat_ Asah1 ( ortholog_one2one ) Rabbit_ ASAH1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NAAA |
| Tissue | NA |
| Tissue Specificity | Broadly expressed with higher expression in heart. {ECO:0000269|PubMed:10610716}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5U7Z (X-ray 2.50A ) 6MHM (X-ray 2.74A ) |
| DBSNP | rs137853595 rs779888892 rs145873635 rs10103355 rs1071645 rs1071645 rs1049874 rs2472205 rs137853594 rs200455852 rs756455049 rs137853597 rs137853593 rs1554808625 rs10103355 rs137853596 rs543697946 rs17636067 rs756455049 rs1588973202 |
| Subcellular location [CC] | Lysosome {ECO:0000269|PubMed:12764132}. Secreted {ECO:0000269|PubMed:7744740}. Note=Secretion is extremely low and localization to lysosomes is mannose-6-phosphate receptor-dependent. {ECO:0000269|PubMed:11451951}.; [Isoform 2]: Nucleus {ECO:0000305|PubMed:22927646}. Cytoplasm {ECO:0000305|PubMed:22927646}. Note=A localization to the nucleus and the cytoplasm has also been reported for ASAH1, most probably for isoforms devoid of a signal peptide. {ECO:0000305|PubMed:22927646}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |