N-acylsphingosine amidohydrolase 1

Summary
Gene Symbol
  • ASAH1
Aliases
  • AC
  • ACDase
  • FLJ21558
  • PHP32
  • acid ceramidase
  • acylsphingosine deacylase
Organism
Homo sapiens (human)
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
OrthoDB (Group)
Group level
Eukaryota
Group Name
acid
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
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
The Human Phenotype Ontology
Displaying entries 101 - 110 of 114 in total
HPO ID HPO Term
HP:0009811 Abnormality of the elbow
HP:0010501 Limitation of knee mobility
HP:0010628 Facial palsy
HP:0010729 Cherry red spot of the macula
HP:0010819 Atonic seizure
HP:0011147 Typical absence seizure
HP:0011463 Childhood onset
HP:0011842 Abnormal skeletal morphology
HP:0011968 Feeding difficulties
HP:0012379 Abnormal circulating enzyme concentration or activity
Displaying all 4 entries
Disease ID Disease Name
OMIM:159950
  • spinal muscular atrophy-progressive myoclonic epilepsy syndrome
ORPHA:2590
  • spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OMIM:228000
  • Farber lipogranulomatosis
ORPHA:333
  • Farber lipogranulomatosis
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002014
Gene Name
N-acylsphingosine amidohydrolase (acid ceramidase) 1

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 8, 2025