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
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With asah1a Human Ortholog
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
Associated With asah1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR029130 Acid ceramidase, N-terminal
Domain IPR029132 Choloylglycine hydrolase/NAAA C-terminal
Family IPR016699 Acid ceramidase-like
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations