N-acylsphingosine amidohydrolase 1

Summary
Gene Symbol
  • ASAH1
Aliases
  • AC
  • ACDase
  • FLJ21558
  • PHP32
  • acid ceramidase
  • acylsphingosine deacylase
Organism
Homo sapiens (human)
External Links
NCBI Gene
427
HGNC
735
KEGG Gene ID
hsa:427
PubChem
427
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Epilepsy
  • Glycoprotein
  • Hydrolase
  • Lysosome
  • Neurodegeneration
  • Nucleus
  • Reference proteome
  • Secreted
  • Signal
  • Sphingolipid metabolism
Proteins
Displaying all 3 entries
UniProt Protein Name
Q53H01
Q13510
  • Acylsphingosine deacylase
  • Glycosylceramide deacylase
  • N-acylethanolamine hydrolase ASAH1
  • N-acylsphingosine amidohydrolase
  • Putative 32 kDa heart protein
A8K0B6
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000104763

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12348
Name
acid ceramidase [EC:3.5.1.23]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 173 in total
DO ID Disease Name Source
DOID:0050328 congenital hypothyroidism
DOID:0050439 Usher syndrome
DOID:0050464 Farber lipogranulomatosis
DOID:0050841 focal hand dystonia
DOID:0050902 medulloblastoma
DOID:0060162 dentatorubral-pallidoluysian atrophy
DOID:0060180 colitis
DOID:0060189 ileitis
DOID:0060190 ileocolitis
DOID:0060193 amyotrophic lateral sclerosis type 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 114 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000407 Sensorineural hearing impairment
HP:0000502 Abnormal conjunctiva morphology
HP:0000608 Macular degeneration
HP:0000639 Nystagmus
HP:0000707 Abnormality of the nervous system
HP:0000708 Atypical behavior
HP:0000726 Dementia
HP:0000737 Irritability
HP:0000766 Abnormal sternum morphology
Displaying all 4 entries
Disease ID Disease Name
ORPHA:333
  • Farber lipogranulomatosis
ORPHA:2590
  • spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OMIM:159950
  • spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OMIM:228000
  • Farber lipogranulomatosis
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002014
Gene Name
N-acylsphingosine amidohydrolase (acid ceramidase) 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024