• Gene id: 253782

Gene Summary

• Gene Symbol: CERS6   Gene   UCSC   Ensembl
• Aliases: CERS5, LASS6
• Gene name: ceramide synthase 6
• Alternate names: ceramide synthase 6, LAG1 homolog, ceramide synthase 6, longevity assurance homolog 6,
• Gene location: 2q24.3 (168455861: 168775133)     Exons: 15     NC_000002.12
• OMIM: 100880

Protein Summary

• Protein general information: Q6ZMG9  
  • Name: Ceramide synthase 6 (CerS6) (EC 2.3.1. ) (LAG1 longevity assurance homolog 6)
  • Length: 384  
  • Mass: 44890
• Sequence:

  MAGILAWFWNERFWLPHNVTWADLKNTEEATFPQAEDLYLAFPLAFCIFMVRLIFERFVAKPCAIALNIQANGPQ
  IAPPNAILEKVFTAITKHPDEKRLEGLSKQLDWDVRSIQRWFRQRRNQEKPSTLTRFCESMWRFSFYLYVFTYGV
  RFLKKTPWLWNTRHCWYNYPYQPLTTDLHYYYILELSFYWSLMFSQFTDIKRKDFGIMFLHHLVSIFLITFSYVN
  NMARVGTLVLCLHDSADALLEAAKMANYAKFQKMCDLLFVMFAVVFITTRLGIFPLWVLNTTLFESWEIVGPYPS
  WWVFNLLLLLVQGLNCFWSYLIVKIACKAVSRGKVSKDDRSDIESSSDEEDSEPPGKNPHTATTTNGTSGTNGYL
  LTGSCSMDD

• Structural information:
  • Protein Domains: (130..33-)
    (/note="TLC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00205"-)
  • Interpro: IPR009057  IPR001356  IPR016439  IPR006634  
  • Prosite: PS50922
  • CDD: cd00086
  • STRING: ENSP00000376453
• Other Databases: GeneCards:  CERS6  Malacards:  CERS6

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0050291	sphingosine N-acyltransferase activity	IDA	molecular function
GO:0050291	sphingosine N-acyltransferase activity	IDA	molecular function
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0003677	DNA binding	IEA	molecular function
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:0006954	inflammatory response	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R