Seroatlas · Human Serome Atlas

CERS3

Ceramide synthase 3

Also known as: CERS3_HUMAN, LASS3, MGC27091

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

Protein identityUniProt · HPA

UniProt accession: Q8IU89
Gene: CERS3
Ensembl: ENSG00000154227
Chromosome: 15
Canonical length: 383 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

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 synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

383 residues, UniProt reviewed canonical sequence.

>Q8IU89|CERS3
     1  MFWTFKEWFW LERFWLPPTI KWSDLEDHDG LVFVKPSHLY VTIPYAFLLL IIRRVFEKFV
    61  ASPLAKSFGI KETVRKVTPN TVLENFFKHS TRQPLQTDIY GLAKKCNLTE RQVERWFRSR
   121  RNQERPSRLK KFQEACWRFA FYLMITVAGI AFLYDKPWLY DLWEVWNGYP KQPLLPSQYW
   181  YYILEMSFYW SLLFRLGFDV KRKDFLAHII HHLAAISLMS FSWCANYIRS GTLVMIVHDV
   241  ADIWLESAKM FSYAGWTQTC NTLFFIFSTI FFISRLIVFP FWILYCTLIL PMYHLEPFFS
   301  YIFLNLQLMI LQVLHLYWGY YILKMLNRCI FMKSIQDVRS DDEDYEEEEE EEEEEATKGK
   361  EMDCLKNGLR AERHLIPNGQ HGH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CERS3 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): 0.29
Highest tissue expression: 62 nTPM

Expression across tissuesHPA

Tissue

skin: 62 nTPM
esophagus: 53 nTPM
vagina: 29 nTPM
cervix: 22 nTPM
testis: 17 nTPM
tonsil: 15 nTPM

Single-cell type

esophageal apical cells: 819 nCPM
esophageal suprabasal cells: 358 nCPM
suprabasal keratinocytes: 242 nCPM
esophageal basal cells: 116 nCPM
epicardial cells: 105 nCPM
basal keratinocytes: 88 nCPM

Immune cell

naive CD4 T-cell: 0.6 nTPM
eosinophil: 0.4 nTPM
memory CD4 T-cell: 0.1 nTPM
non-classical monocyte: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

cerebellum: 1 nTPM
hypothalamus: 0.8 nTPM
basal ganglia: 0.7 nTPM
cerebral cortex: 0.6 nTPM
amygdala: 0.5 nTPM
hippocampal formation: 0.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CERS3.

Disease | AllUniProt

Conditions CERS3 is implicated in, by any mechanism.

Ichthyosis, congenital, autosomal recessive 9 (ARCI9) MIM:615023

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 157 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive congenital ichthyosis 9
Abnormality of the skin
Lamellar ichthyosis
Ichthyosis

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): 0.63
gnomAD pLI: 0.01
gnomAD missense Z: 0.61
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 CERS3 as an antibody target. Whether an autoantibody or antibody against CERS3 could matter depends on whether native CERS3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CERS3 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 CERS3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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