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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

HGNC:735

JoGo

ASAH1

TogoVar

ASAH1

Annotation

Keyword

3D-structure
Alternative splicing
Cytoplasm
Direct protein sequencing
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Hydrolase
Lysosome
Neurodegeneration
Nucleus
Proteomics identification
Reference proteome
Secreted
Signal
Sphingolipid metabolism

Proteins

Displaying **all 4** entries
UniProt	Protein Name
Q13510	Acylsphingosine deacylase Glycosylceramide deacylase N-acylethanolamine hydrolase ASAH1 N-acylsphingosine amidohydrolase Putative 32 kDa heart protein
A0A1B0GUE3	Acylsphingosine deacylase N-acylethanolamine hydrolase ASAH1 N-acylsphingosine amidohydrolase
A8K0B6	Acylsphingosine deacylase N-acylethanolamine hydrolase ASAH1 N-acylsphingosine amidohydrolase
Q53H01	Acylsphingosine deacylase N-acylethanolamine hydrolase ASAH1 N-acylsphingosine amidohydrolase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
fatty acid metabolic process	IEA
sphingolipid metabolic process	IEA
keratinocyte differentiation	IMP
negative regulation of DNA-templated transcription	IEA
negative regulation of transcription, DNA-templated	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

lipid catabolic process [inference]

sphingolipid catabolic process [inference]

ceramide catabolic process

biosynthetic process [inference]

lipid biosynthetic process [inference]

sphingolipid biosynthetic process [inference]

ceramide biosynthetic process

sphingoid biosynthetic process [inference]

sphingosine biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

sphingosine biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

fatty acid metabolic process

sphingolipid metabolic process

ceramide metabolic process [inference]

sphingolipid biosynthetic process [inference]

ceramide biosynthetic process

sphingoid biosynthetic process [inference]

sphingosine biosynthetic process

sphingolipid catabolic process [inference]

ceramide catabolic process

sphingoid metabolic process [inference]

sphingosine metabolic process [inference]

sphingosine biosynthetic process

sphingoid biosynthetic process [inference]

sphingosine biosynthetic process

lipid biosynthetic process [inference]

sphingolipid biosynthetic process [inference]

ceramide biosynthetic process

sphingoid biosynthetic process [inference]

sphingosine biosynthetic process

lipid catabolic process [inference]

sphingolipid catabolic process [inference]

ceramide catabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

diol metabolic process [inference]

sphingosine metabolic process [inference]

sphingosine biosynthetic process

diol biosynthetic process [inference]

sphingosine biosynthetic process

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

sphingosine biosynthetic process

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

sphingosine biosynthetic process

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

sphingosine biosynthetic process

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

developmental process [inference]

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

response to stimulus [inference]

response to chemical [inference]

response to peptide [inference]

response to cytokine [inference]

response to tumor necrosis factor [inference]

cellular response to tumor necrosis factor

cellular response to cytokine stimulus [inference]

cellular response to tumor necrosis factor

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

negative regulation of DNA-templated transcription

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of lipid biosynthetic process [inference]

regulation of steroid biosynthetic process

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

negative regulation of DNA-templated transcription

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of primary metabolic process [inference]

regulation of lipid metabolic process [inference]

regulation of steroid metabolic process [inference]

regulation of steroid biosynthetic process

regulation of lipid biosynthetic process [inference]

regulation of steroid biosynthetic process

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

regulation of programmed cell death [inference]

regulation of programmed necrotic cell death

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

Displaying entries **6 - 10** of 16 in total

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GO Term	Evidence Code	PMID
nucleus	IEA
cytoplasm	IEA
lysosome	IDA
lysosome	IEA
early endosome	IDA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

nucleus

vacuole [inference]

lytic vacuole [inference]

lysosome

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

vacuole [inference]

lytic vacuole [inference]

lysosome

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
transcription corepressor activity	IMP
protein binding	IPI
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IDA
nuclear receptor binding	IPI
N-acylsphingosine amidohydrolase activity	EXP

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [inference]

hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides

binding [inference]

protein binding

transcription factor binding [inference]

DNA-binding transcription factor binding [inference]

RNA polymerase II-specific DNA-binding transcription factor binding [inference]

nuclear receptor binding

transcription regulator activity [inference]

transcription coregulator activity [inference]

transcription corepressor activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000104763

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K12348

Name

acid ceramidase [EC:3.5.1.23]

References

8955159

Rhea

RHEA:20856

H₂O + an N-acylsphing-4-enine

a fatty acid + sphing-4-enine

Enzyme

3.5.1.23

PMID

RHEA:30915

H₂O + a β-D-glucosyl-(1↔1ʼ)-N-acylsphing-4-enine

a fatty acid + β-D-glucosyl-(1↔1)-sphing-4-enine

Enzyme

3.5.1.109

PMID

RHEA:30911

H₂O + a sphingomyelin

a carboxylate + sphing-4-enine-phosphocholine

Enzyme

3.5.1.109

PMID

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy	Alliance of Genome Resources
DOID:0050464	Farber lipogranulomatosis	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1927	sphingolipidosis	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **114** in total

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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
OMIM:159950	spinal muscular atrophy-progressive myoclonic epilepsy syndrome
ORPHA:2590	spinal muscular atrophy-progressive myoclonic epilepsy syndrome
ORPHA:333	Farber lipogranulomatosis
OMIM:228000	Farber lipogranulomatosis

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002014
Gene Name: N-acylsphingosine amidohydrolase (acid ceramidase) 1

Ortholog

Displaying **all 4** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	11886	MGI:1277124
Rattus norvegicus	84431	RGD:621568
Caenorhabditis elegans	185021	WB:WBGene00009192
Caenorhabditis elegans	173120	WB:WBGene00010769

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements