Gene
asah1b
- ID
- ZDB-GENE-040426-1512
- Name
- N-acylsphingosine amidohydrolase (acid ceramidase) 1b
- Symbol
- asah1b Nomenclature History
- Previous Names
-
- zgc:66026
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Exhibits N-acylsphingosine amidohydrolase activity and ceramidase activity. Involved in collateral sprouting and self proteolysis. 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
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
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:Q6PH71
|
395 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
asah1b-201
(1)
|
Havana | 1726 nt | |
| ncRNA |
asah1b-002
(1)
|
Havana | 538 nt |
Interactions and Pathways
No data available
Plasmids
No data available