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
203047712010A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.72
235494212013Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.31
237549602013Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.31
260454662015Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors.12
268879522016Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.7
288759802017Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.1

Citation

Dessen P

CERS3 (ceramide synthase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61739/cers3