• Gene id: 10715

Gene Summary

• Gene Symbol: CERS1   Gene   UCSC   Ensembl
• Aliases: EPM8, GDF-1, GDF1, LAG1, LASS1, UOG1
• Gene name: ceramide synthase 1
• Alternate names: ceramide synthase 1, Embryonic growth/differentiation factor 1, longevity assurance (LAG1, S. cerevisiae) homolog 1, longevity assurance gene 1 protein homolog 1, protein UOG-1, upstream of GDF1,
• Gene location: 19p13.11 (18896726: 18868544)     Exons: 9     NC_000019.10
• Gene summary(Entrez): This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated
• OMIM: 603911

Protein Summary

• Protein general information: P27544  
  • Name: Ceramide synthase 1 (CerS1) (EC 2.3.1. ) (LAG1 longevity assurance homolog 1) (Longevity assurance gene 1 protein homolog 1) (Protein UOG 1)
  • Length: 350  
  • Mass: 39536
• Sequence:

  MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPELLLLALGALGWTALRS
  AATARLFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAA
  AYLLQGSFYGHSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYF
  KSRGGSYHRLHALAADLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFL
  YIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEKPLRNGLVKDKRF

• Structural information:
  • Protein Domains: (97..31-)
    (/note="TLC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00205"-)
  • Interpro: IPR016439  IPR015615  IPR006634  
  • Prosite: PS50922
• Other Databases: GeneCards:  CERS1  Malacards:  CERS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050291	sphingosine N-acyltransferase activity	ISS	molecular function
GO:0046513	ceramide biosynthetic process	ISS	biological process
GO:0050291	sphingosine N-acyltransferase activity	IBA	molecular function
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016410	N-acyltransferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0050291	sphingosine N-acyltransferase activity	IDA	molecular function
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0043231	intracellular membrane-bounded organelle	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0035690	cellular response to drug	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0036146	cellular response to mycotoxin	IDA	biological process
GO:0030148	sphingolipid biosynthetic process	IDA	biological process
GO:0072721	cellular response to dithiothreitol	IDA	biological process
GO:0071492	cellular response to UV-A	IDA	biological process
GO:0051974	negative regulation of telomerase activity	IDA	biological process
GO:0016020	membrane	TAS	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Progressive myoclonic epilepsy	KEGG:H00810
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq