Seroatlas · Human Serome Atlas

CERS1

Ceramide synthase 1

Also known as: CERS1_HUMAN, LAG1, LASS1, UOG1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P27544
Gene
CERS1
Ensembl
ENSG00000223802
Chromosome
19
Canonical length
350 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>P27544|CERS1
     1  MAAAGPAAGP TGPEPMPSYA QLVQRGWGSA LAAARGCTDC GWGLARRGLA EHAHLAPPEL
    61  LLLALGALGW TALRSAATAR LFRPLAKRCC LQPRDAAKMP ESAWKFLFYL GSWSYSAYLL
   121  FGTDYPFFHD PPSVFYDWTP GMAVPRDIAA AYLLQGSFYG HSIYATLYMD TWRKDSVVML
   181  LHHVVTLILI VSSYAFRYHN VGILVLFLHD ISDVQLEFTK LNIYFKSRGG SYHRLHALAA
   241  DLGCLSFGFS WFWFRLYWFP LKVLYATSHC SLRTVPDIPF YFFFNALLLL LTLMNLYWFL
   301  YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAEKPL RNGLVKDKRF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CERS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
164 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 164 nTPM
  • basal ganglia: 162 nTPM
  • midbrain: 152 nTPM
  • hippocampal formation: 142 nTPM
  • cerebral cortex: 139 nTPM
  • amygdala: 139 nTPM

Single-cell type

  • astrocytes: 378 nCPM
  • bergmann glia: 206 nCPM
  • ependymal cells: 185 nCPM
  • late spermatids: 125 nCPM
  • oligodendrocytes: 91 nCPM
  • oligodendrocyte progenitor cells: 68 nCPM

Immune cell

  • neutrophil: 0.2 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • medulla oblongata: 292 nTPM
  • cerebellum: 232 nTPM
  • thalamus: 229 nTPM
  • spinal cord: 224 nTPM
  • white matter: 220 nTPM
  • basal ganglia: 210 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CERS1.

Disease | AllUniProt

Conditions CERS1 is implicated in, by any mechanism.

  • Epilepsy, progressive myoclonic 8 (EPM8) MIM:616230

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 323 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.69
gnomAD pLI
0.1
gnomAD missense Z
0.82
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CERS1 as an antibody target. Whether an autoantibody or antibody against CERS1 could matter depends on whether native CERS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CERS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CERS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CERS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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