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 be involved in lipid metabolic process. 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

Expression

All Expression Data

4 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6903483 (1 image)

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	Additional Resources	Length	Acid ceramidase-like	Acid ceramidase, N-terminal	Choloylglycine hydrolase/NAAA C-terminal
UniProtKB:A0A8M3AS22	InterPro	234
UniProtKB:Q5XJR7	InterPro	390

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	asah1a-201 (1) Ensembl	Ensembl		2,007 nt	Select Tool ZFIN BLAST
ncRNA	asah1a-002 (1) Ensembl	Ensembl		527 nt	Select Tool ZFIN BLAST

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