• Gene id: 125981

Gene Summary

• Gene Symbol: ACER1   Gene   UCSC   Ensembl
• Aliases: ALKCDase1, ASAH3
• Gene name: alkaline ceramidase 1
• Alternate names: alkaline ceramidase 1, CTB-180A7.3, N-acylsphingosine amidohydrolase (alkaline ceramidase) 3, N-acylsphingosine amidohydrolase 3, acylsphingosine deacylase 3, alkCDase 1, alkaline CDase 1,
• Gene location: 19p13.3 (6360367: 6306141)     Exons: 8     NC_000019.10
• Gene summary(Entrez): Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic sig
• OMIM: 608846

Protein Summary

• Protein general information: Q8TDN7  
  • Name: Alkaline ceramidase 1 (AlkCDase 1) (Alkaline CDase 1) (EC 3.5.1. ) (EC 3.5.1.23) (Acylsphingosine deacylase 3) (N acylsphingosine amidohydrolase 3)
  • Length: 264  
  • Mass: 31095
  • Tissue specificity: Mainly expressed in epidermis. {ECO
• Sequence:

  MPSIFAYQSSEVDWCESNFQYSELVAEFYNTFSNIPFFIFGPLMMLLMHPYAQKRSRYIYVVWVLFMIIGLFSMY
  FHMTLSFLGQLLDEIAILWLLGSGYSIWMPRCYFPSFLGGNRSQFIRLVFITTVVSTLLSFLRPTVNAYALNSIA
  LHILYIVCQEYRKTSNKELRHLIEVSVVLWAVALTSWISDRLLCSFWQRIHFFYLHSIWHVLISITFPYGMVTMA
  LVDANYEMPGETLKVRYWPRDSWPVGLPYVEIRGDDKDC

• Structural information:
  • Interpro: IPR008901  
  • STRING: ENSP00000301452
• Other Databases: GeneCards:  ACER1  Malacards:  ACER1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046512	sphingosine biosynthetic process	IMP	biological process
GO:0071633	dihydroceramidase activity	IMP	molecular function
GO:0046514	ceramide catabolic process	IMP	biological process
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA	molecular function
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0017040	N-acylsphingosine amidohydrolase activity	IEA	molecular function
GO:0102121	ceramidase activity	IEA	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0017040	N-acylsphingosine amidohydrolase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046512	sphingosine biosynthetic process	IEA	biological process
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0048733	sebaceous gland development	IEA	biological process
GO:0046514	ceramide catabolic process	IEA	biological process
GO:0033561	regulation of water loss via skin	IEA	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IDA	molecular function
GO:0071633	dihydroceramidase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0010446	response to alkaline pH	IDA	biological process
GO:0046512	sphingosine biosynthetic process	IDA	biological process
GO:0046512	sphingosine biosynthetic process	IDA	biological process
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0030148	sphingolipid biosynthetic process	IDA	biological process
GO:0006665	sphingolipid metabolic process	ISS	biological process
GO:0008544	epidermis development	IEP	biological process
GO:0030154	cell differentiation	IMP	biological process
GO:0030216	keratinocyte differentiation	IEP	biological process
GO:0046514	ceramide catabolic process	ISS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq