ASAH1 (N-acylsphingosine amidohydrolase 1)

2008-07-01  

Identity

HGNC
LOCATION
8p22
LOCUSID
ALIAS
AC,ACDase,ASAH,PHP,PHP32,SMAPME
FUSION GENES

Other Information

Locus ID:

NCBI: 427
MIM: 613468
HGNC: 735
Ensembl: ENSG00000104763

Variants:

dbSNP: 427
ClinVar: 427
TCGA: ENSG00000104763
COSMIC: ASAH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104763ENST00000262097Q13510
ENSG00000104763ENST00000314146Q13510
ENSG00000104763ENST00000381733Q13510
ENSG00000104763ENST00000518087A0A1B0GW30
ENSG00000104763ENST00000519468A0A1B0GUB3
ENSG00000104763ENST00000520051A0A1B0GUJ2
ENSG00000104763ENST00000520781E7EMM4
ENSG00000104763ENST00000523593A0A1B0GVY5
ENSG00000104763ENST00000635756A0A1B0GV06
ENSG00000104763ENST00000635769A0A1B0GVE7
ENSG00000104763ENST00000635944A0A1B0GW30
ENSG00000104763ENST00000635998Q13510
ENSG00000104763ENST00000636009A0A1B0GU70
ENSG00000104763ENST00000636033A0A1B0GTA6
ENSG00000104763ENST00000636050A0A1B0GVL2
ENSG00000104763ENST00000636128A0A1B0GTP7
ENSG00000104763ENST00000636160A0A1B0GTD4
ENSG00000104763ENST00000636171A0A1B0GTM3
ENSG00000104763ENST00000636269A0A1B0GVA3
ENSG00000104763ENST00000636299A0A1B0GUQ5
ENSG00000104763ENST00000636455A0A1B0GVG2
ENSG00000104763ENST00000636494A0A1B0GTD4
ENSG00000104763ENST00000636537A0A1B0GU06
ENSG00000104763ENST00000636577A0A1B0GUA4
ENSG00000104763ENST00000636691A0A1B0GUE3
ENSG00000104763ENST00000636701A0A1B0GTQ7
ENSG00000104763ENST00000636715A0A1B0GWC9
ENSG00000104763ENST00000636815A0A1B0GUW4
ENSG00000104763ENST00000636823A0A1B0GW66
ENSG00000104763ENST00000636920A0A1B0GVA8
ENSG00000104763ENST00000636997A0A1B0GUG1
ENSG00000104763ENST00000637013A0A1B0GUP1
ENSG00000104763ENST00000637095A0A1B0GV88
ENSG00000104763ENST00000637202A0A1B0GTD4
ENSG00000104763ENST00000637244A0A1B0GUP1
ENSG00000104763ENST00000637429A0A1B0GUP1
ENSG00000104763ENST00000637484A0A1B0GUP1
ENSG00000104763ENST00000637528A0A1B0GW68
ENSG00000104763ENST00000637536A0A1B0GVC9
ENSG00000104763ENST00000637561A0A1B0GVJ1
ENSG00000104763ENST00000637603A0A1B0GU62
ENSG00000104763ENST00000637636A0A1B0GUH5
ENSG00000104763ENST00000637638A0A1B0GW48
ENSG00000104763ENST00000637718A0A1B0GUJ3
ENSG00000104763ENST00000637790Q13510
ENSG00000104763ENST00000637792A0A1B0GV95
ENSG00000104763ENST00000637805A0A1B0GTX9
ENSG00000104763ENST00000637872A0A1B0GVA3
ENSG00000104763ENST00000637922A0A1B0GUE3
ENSG00000104763ENST00000637946A0A1B0GUP1
ENSG00000104763ENST00000637991A0A1B0GTZ5

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Sphingosine biosynthesisKEGGM00099
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
368306432023Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.3
368306432023Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.3
325696202021The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology.0
337667312021N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production.5
341026112021Acid ceramidase promotes senescent cell survival.7
325696202021The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology.0
337667312021N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production.5
341026112021Acid ceramidase promotes senescent cell survival.7
321110952020Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.5
324499752020ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.5
326273102020Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.3
327064522020Farber disease in a patient from China.2
328755762020ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.3
333340132020Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer.8
321110952020Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.5

Citation

Dessen P

ASAH1 (N-acylsphingosine amidohydrolase 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50162/img/gene-explorer/css/template-nav.css