• Gene id: 91012

Gene Summary

• Gene Symbol: CERS5   Gene   UCSC   Ensembl
• Aliases: LASS5, Trh4
• Gene name: ceramide synthase 5
• Alternate names: ceramide synthase 5, LAG1 homolog, ceramide synthase 5, LAG1 longevity assurance homolog 5, TRAM homolog 4, sphingosine N-acyltransferase CERS5,
• Gene location: 12q13.12 (50167532: 50129288)     Exons: 14     NC_000012.12
• Gene summary(Entrez): This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternat
• OMIM: 615335

Protein Summary

• Protein general information: Q8N5B7  
  • Name: Ceramide synthase 5 (CerS5) (EC 2.3.1. ) (LAG1 longevity assurance homolog 5) (Sphingosine N acyltransferase CERS5) (EC 2.3.1.24)
  • Length: 392  
  • Mass: 45752
• Sequence:

  MATAAQGPLSLLWGWLWSERFWLPENVSWADLEGPADGYGYPRGRHILSVFPLAAGIFFVRLLFERFIAKPCALC
  IGIEDSGPYQAQPNAILEKVFISITKYPDKKRLEGLSKQLDWNVRKIQCWFRHRRNQDKPPTLTKFCESMWRFTF
  YLCIFCYGIRFLWSSPWFWDIRQCWHNYPFQPLSSGLYHYYIMELAFYWSLMFSQFTDIKRKDFLIMFVHHLVTI
  GLISFSYINNMVRVGTLIMCLHDVSDFLLEAAKLANYAKYQRLCDTLFVIFSAVFMVTRLGIYPFWILNTTLFES
  WEIIGPYASWWLLNGLLLTLQLLHVIWSYLIARIALKALIRGKVSKDDRSDVESSSEEEDVTTCTKSPCDSSSSN
  GANRVNGHMGGSYWAEE

• Structural information:
  • Protein Domains: (139..34-)
    (/note="TLC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00205"-)
  • Interpro: IPR009057  IPR001356  IPR016439  IPR006634  
  • Prosite: PS50922
  • CDD: cd00086
  • STRING: ENSP00000325485
• Other Databases: GeneCards:  CERS5  Malacards:  CERS5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050291	sphingosine N-acyltransferase activity	IDA	molecular function
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0050291	sphingosine N-acyltransferase activity	IBA	molecular function
GO:0016410	N-acyltransferase activity	IBA	molecular function
GO:0050291	sphingosine N-acyltransferase activity	IDA	molecular function
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:0016740	transferase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0050291	sphingosine N-acyltransferase activity	IEA	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0050291	sphingosine N-acyltransferase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030148	sphingolipid biosynthetic process	IEA	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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray