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 enable N-acylsphingosine amidohydrolase activity. Predicted to act upstream of or within fatty acid metabolic process and sphingolipid metabolic process. Predicted to be located in extracellular region and lysosome. Is expressed in brain. 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
- 4 figures from 3 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:A0A8M3AS22
|
234 | |||
|
UniProtKB:Q5XJR7
|
390 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
asah1a-201
(1)
|
Ensembl | 2,007 nt | ||
| ncRNA |
asah1a-002
(1)
|
Ensembl | 527 nt |
Interactions and Pathways
No data available
Plasmids
No data available