• Gene id: 427

Gene Summary

• Gene Symbol: ASAH1   Gene   UCSC   Ensembl
• Aliases: AC, ACDase, ASAH, PHP, PHP32, SMAPME
• Gene name: N-acylsphingosine amidohydrolase 1
• Alternate names: acid ceramidase, N-acylsphingosine amidohydrolase (acid ceramidase) 1, acid CDase, acylsphingosine deacylase, putative 32 kDa heart protein,
• Gene location: 8p22 (58238425: 58268517)     Exons: 14     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates
• OMIM: 613468

Protein Summary

• Protein general information: Q13510  
  • Name: Acid ceramidase (AC) (ACDase) (Acid CDase) (EC 3.5.1.23) (Acylsphingosine deacylase) (N acylsphingosine amidohydrolase) (Putative 32 kDa heart protein) (PHP32) [Cleaved into: Acid ceramidase subunit alpha; Acid ceramidase subunit beta]
  • Length: 395  
  • Mass: 44,660
• Sequence:

  MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKV
  IVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAED
  KKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNE
  RFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKE
  SLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLID
  VTKGQFETYLRDCPDPCIGW

• Structural information:
  • Interpro: IPR016699  IPR029130  IPR029132  
  • STRING: ENSP00000371152
• Other Databases: GeneCards:  ASAH1  Malacards:  ASAH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003824	catalytic activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0006672	ceramide metabolic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0017040	ceramidase activity	TAS	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003824	catalytic activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006672	ceramide metabolic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA	molecular function
GO:0017040	ceramidase activity	IEA	molecular function
GO:0017040	ceramidase activity	IEA	molecular function
GO:0017040	ceramidase activity	TAS	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003824	catalytic activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0006672	ceramide metabolic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0017040	ceramidase activity	TAS	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa04142	Lysosome

Diseases

Associated diseases	References
Farber lipogranulomatosis	OMIM: 613468
Spinal muscular atrophy	OMIM: 613468
Male factor infertility	MIK: 26568756
Defects in the degradation of sphingomyelin	KEGG: H00424
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 26568756
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26568756	Male infertility			66 (25 fertile men, 41 infertile men)	Male infertility	SOD MDA PHP and 8-OHdG
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881