ASAH1 (N-acylsphingosine amidohydrolase 1)

2008-07-01  

Identity

HGNC
ASAH1
LOCATION
8p22
LOCUSID
427
ALIAS
AC,ACDase,ASAH,PHP,PHP32,SMAPME
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
bone marrow

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/gene-explorer/favicon/css/template-nav.css