• Gene id: 204219

Gene Summary

• Gene Symbol: CERS3   Gene   UCSC   Ensembl
• Aliases: ARCI9, LASS3
• Gene name: ceramide synthase 3
• Alternate names: ceramide synthase 3, LAG1 homolog, ceramide synthase 3, LAG1 longevity assurance homolog 3, dihydroceramide synthase 3, sphingosine N-acyltransferase CERS3,
• Gene location: 15q26.3 (100544981: 100400394)     Exons: 17     NC_000015.10
• Gene summary(Entrez): This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synth
• OMIM: 107272

Protein Summary

• Protein general information: Q8IU89  
  • Name: Ceramide synthase 3 (CerS3) (EC 2.3.1. ) (Dihydroceramide synthase 3) (LAG1 longevity assurance homolog 3) (Sphingosine N acyltransferase CERS3) (EC 2.3.1.24)
  • Length: 383  
  • Mass: 46316
  • Tissue specificity: Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level). {ECO
• Sequence:

  MFWTFKEWFWLERFWLPPTIKWSDLEDHDGLVFVKPSHLYVTIPYAFLLLIIRRVFEKFVASPLAKSFGIKETVR
  KVTPNTVLENFFKHSTRQPLQTDIYGLAKKCNLTERQVERWFRSRRNQERPSRLKKFQEACWRFAFYLMITVAGI
  AFLYDKPWLYDLWEVWNGYPKQPLLPSQYWYYILEMSFYWSLLFRLGFDVKRKDFLAHIIHHLAAISLMSFSWCA
  NYIRSGTLVMIVHDVADIWLESAKMFSYAGWTQTCNTLFFIFSTIFFISRLIVFPFWILYCTLILPMYHLEPFFS
  YIFLNLQLMILQVLHLYWGYYILKMLNRCIFMKSIQDVRSDDEDYEEEEEEEEEEATKGKEMDCLKNGLRAERHL
  IPNGQHGH

• Structural information:
  • Protein Domains: (130..33-)
    (/note="TLC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00205"-)
  • Interpro: IPR009057  IPR001356  IPR016439  IPR006634  
  • Prosite: PS50922
  • CDD: cd00086
  • STRING: ENSP00000284382
• Other Databases: GeneCards:  CERS3  Malacards:  CERS3

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:0046513	ceramide biosynthetic process	IMP	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0070268	cornification	ISS	biological process
GO:0008544	epidermis development	ISS	biological process
GO:0030216	keratinocyte differentiation	IMP	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:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030148	sphingolipid biosynthetic process	IEA	biological process
GO:0070268	cornification	IEA	biological process
GO:0050291	sphingosine N-acyltransferase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
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
Autosomal recessive congenital ichthyosis	KEGG:H00734
Autosomal recessive congenital ichthyosis	KEGG:H00734
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