CERS1

This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]

Description

Ceramide synthase 1

Tissue specificity

Group enriched (brain, choroid plexus)

Subcell location

Endoplasmic reticulum

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (18868545 - 18896727)

Ensembl ID

ENSG00000223802  (ver. 103.38)

Orthologs

-

UniProt

P27544

neXtProt

NX_P27544

Human splice variants

Protein structure