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
- Enables N-acylsphingosine amidohydrolase activity and ceramidase activity. Acts upstream of or within collateral sprouting and self proteolysis. Predicted to be located in 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
asah1b-201
(1)
|
Ensembl | 1,726 nt | ||
| ncRNA |
asah1b-002
(1)
|
Ensembl | 538 nt |
Interactions and Pathways
No data available
Plasmids
No data available