Gene table of ASAH1 : N-acylsphingosine amidohydrolase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with ASAH1OMIM linkNumber of associated genesgenes
159950SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSYClinVar, OMIM, HUMSAVAR link to OMIM 1ASAH1
228000FARBER LIPOGRANULOMATOSISClinVar, OMIM, HUMSAVAR link to OMIM 1ASAH1

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Annotation of the gene ASAH1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Lysosomehsa041425.78
Sphingolipid metabolismhsa006007.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
MetabolismR-HSA-14307282.34
Glycosphingolipid metabolismR-HSA-16606627.62
Sphingolipid metabolismR-HSA-4281576.79
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
hydrolase activity, acting on carbon-nitrogen (but not peptide) bondsGO:00168104.76
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidesGO:00168115.28
GO:00170408.13
catalytic activityGO:00038241.05