CERS3 (ceramide synthase 3)

2014-11-01  

Identity

HGNC
LOCATION
15q26.3
LOCUSID
ALIAS
ARCI9,LASS3
FUSION GENES

Other Information

Locus ID:

NCBI: 204219
MIM: 615276
HGNC: 23752
Ensembl: ENSG00000154227

Variants:

dbSNP: 204219
ClinVar: 204219
TCGA: ENSG00000154227
COSMIC: CERS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154227ENST00000284382Q8IU89
ENSG00000154227ENST00000394113Q8IU89
ENSG00000154227ENST00000538112Q8IU89
ENSG00000154227ENST00000558884H0YN05
ENSG00000154227ENST00000559639H0YMG6

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Ceramide biosynthesisKEGGM00094
Sphingosine biosynthesisKEGGM00099
Ceramide biosynthesisKEGGhsa_M00094
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
371286642023A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.0
371286642023A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.0
357537292022Ceramide synthase 3 affects invasion and metastasis of hepatocellular carcinoma via the SMAD6 gene.2
357537292022Ceramide synthase 3 affects invasion and metastasis of hepatocellular carcinoma via the SMAD6 gene.2
336841452021β-Sitosterol 3-O-D-glucoside increases ceramide levels in the stratum corneum via the up-regulated expression of ceramide synthase-3 and glucosylceramide synthase in a reconstructed human epidermal keratinization model.7
336841452021β-Sitosterol 3-O-D-glucoside increases ceramide levels in the stratum corneum via the up-regulated expression of ceramide synthase-3 and glucosylceramide synthase in a reconstructed human epidermal keratinization model.7
319584342020Activation of SIRT1 Enhances Epidermal Permeability Barrier Formation through Ceramide Synthase 2- and 3-Dependent Mechanisms.7
328152682020Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.5
319584342020Activation of SIRT1 Enhances Epidermal Permeability Barrier Formation through Ceramide Synthase 2- and 3-Dependent Mechanisms.7
328152682020Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.5
288759802017Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.6
288759802017Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.6
268879522016Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.28
268879522016Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.28
260454662015Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors.26

Citation

Dessen P

CERS3 (ceramide synthase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61739/cers3-(ceramide-synthase-3)