Gene
asah1a
- ID
- ZDB-GENE-041010-191
- Name
- N-acylsphingosine amidohydrolase (acid ceramidase) 1a
- Symbol
- asah1a Nomenclature History
- Previous Names
-
- asah1
- zgc:101637
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have N-acylsphingosine amidohydrolase activity. Predicted to be involved in lipid metabolic process. Predicted to localize to lysosome. Human ortholog(s) of this gene implicated in Farber lipogranulomatosis; sphingolipidosis; and spinal muscular atrophy with progressive myoclonic epilepsy. Orthologous to human ASAH1 (N-acylsphingosine amidohydrolase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6903483 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Farber lipogranulomatosis | Alliance | Farber lipogranulomatosis | 228000 |
| spinal muscular atrophy with progressive myoclonic epilepsy | Alliance | Spinal muscular atrophy with progressive myoclonic epilepsy | 159950 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Acid ceramidase-like | Acid ceramidase, N-terminal | Choloylglycine hydrolase/NAAA C-terminal |
|---|---|---|---|---|
|
UniProtKB:Q5XJR7
|
390 | |||
|
UniProtKB:A8E524
|
390 | |||
|
UniProtKB:A0A2R8QL79
|
387 | |||
|
UniProtKB:F1Q7Z4
|
390 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
asah1a-201
(1)
|
2007 nt | |
| ncRNA |
asah1a-002
(1)
|
527 nt |
Interactions and Pathways
No data available
Plasmids
No data available