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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CERS1
ceramide synthase 1
Chromosome 19 Β· 19p13.11
NCBI Gene: 10715Ensembl: ENSG00000223802.9HGNC: HGNC:14253UniProt: B4DE47
40PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to dithiothreitolendoplasmic reticulumcellular response to UV-Apositive regulation of mitophagyProgressive myoclonic epilepsyright atrial isomerismcongenital heart defects, multiple types, 6visceral heterotaxy
✦AI Summary

CERS1 (ceramide synthase 1) is a key enzyme in sphingolipid biosynthesis that catalyzes the synthesis of C18:0 ceramides from stearoyl-CoA and sphingoid bases 1. The enzyme plays critical roles in cellular stress responses and mitochondrial quality control by mediating mitophagy through C18 ceramide generation, which anchors autophagolysosomes to damaged mitochondria for elimination 23. CERS1 activity is regulated by the heat shock protein Hsp27, which acts as an endogenous inhibitor through direct protein-protein interaction 2. In pathological contexts, CERS1 demonstrates tumor suppressive properties, as ceramide analog treatments induce CERS1-mediated mitophagy and metabolic stress in cancer cells, leading to fumarate depletion and cell death 3. CERS1 expression correlates with disease severity in atopic dermatitis and positively associates with Staphylococcus aureus abundance, suggesting a role in skin barrier dysfunction 4. Age-related decline in CERS1 contributes to muscle wasting and dysfunction, with genetic variants reducing CERS1 expression associated with decreased grip strength in humans 5. These findings establish CERS1 as a critical regulator of cellular metabolism, stress responses, and tissue homeostasis through its specific ceramide synthetic activity.

Sources cited
1
CERS1 is part of a family of six ceramide synthases that synthesize ceramides with distinct acyl chain lengths
PMID: 20222015
2
Hsp27 acts as an endogenous inhibitor of CerS1 through direct protein-protein interaction and regulates CerS1-mediated mitophagy
PMID: 37689067
3
CERS1-mediated C18-ceramide accumulation in mitochondria promotes mitophagy and tumor suppression through fumarate depletion
PMID: 40540357
4
CERS1 expression correlates with S. aureus abundance and atopic dermatitis severity, contributing to skin barrier dysfunction
PMID: 39343173
5
Age-related decline in CERS1 contributes to muscle wasting, with genetic variants reducing CERS1 associated with decreased grip strength
PMID: 38506902
Disease Associationsβ“˜21
Progressive myoclonic epilepsyOpen Targets
0.67Moderate
right atrial isomerismOpen Targets
0.54Moderate
congenital heart defects, multiple types, 6Open Targets
0.53Moderate
visceral heterotaxyOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
HeterotaxiaOpen Targets
0.37Weak
congenital heart defects, multiple typesOpen Targets
0.34Weak
double outlet right ventricleOpen Targets
0.33Weak
genetic disorderOpen Targets
0.33Weak
HeterotaxyOpen Targets
0.33Weak
Tetralogy of FallotOpen Targets
0.33Weak
transposition of the great arteriesOpen Targets
0.33Weak
Abnormal heart morphologyOpen Targets
0.26Weak
congenital heart diseaseOpen Targets
0.26Weak
progressive myoclonus epilepsyOpen Targets
0.18Weak
oral squamous cell carcinomaOpen Targets
0.09Suggestive
Spinocerebellar ataxia type 41Open Targets
0.09Suggestive
Dysequilibrium syndromeOpen Targets
0.08Suggestive
Rare hereditary ataxiaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Epilepsy, progressive myoclonic 8UniProt
Pathogenic Variants3
NM_021267.5(CERS1):c.269del (p.Cys90fs)Pathogenic
Progressive myoclonic epilepsy type 8
β˜…β˜†β˜†β˜†2023β†’ Residue 90
NM_021267.5(CERS1):c.*1120G>ALikely pathogenic
Congenital heart defects, multiple types, 6
β˜…β˜†β˜†β˜†2020
NM_021267.5(CERS1):c.549C>G (p.His183Gln)Pathogenic
Progressive myoclonic epilepsy type 8
β˜†β˜†β˜†β˜†2014β†’ Residue 183
View on ClinVar β†—
Related Genes
TLCD3BProtein interaction87%CLN8Protein interaction82%DEGS1Protein interaction77%CERS2Protein interaction76%SPTLC3Protein interaction71%CERS3Protein interaction67%
Tissue Expression6 tissues
Brain
100%
Heart
10%
Ovary
9%
Lung
1%
Bone Marrow
1%
Liver
1%
Gene Interaction Network
Click a node to explore
CERS1TLCD3BCLN8DEGS1CERS2SPTLC3CERS3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P27544
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.17Tolerant
Observed/Expected LoF0.43 [0.28–0.69]
RankingsWhere CERS1 stands among ~20K protein-coding genes
  • #10,147of 20,598
    Most Researched40
  • #4,084of 5,498
    Most Pathogenic Variants3
  • #5,137of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedCERS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Accurate prediction of protein structures and interactions using a three-track neural network.
PMID: 34282049
Science Β· 2021
1.00
2
The heat shock protein Hsp27 controls mitochondrial function by modulating ceramide generation.
PMID: 37689067
Cell Rep Β· 2023
0.90
3
Autophagy activation, lipotoxicity and lysosomal membrane permeabilization synergize to promote pimozide- and loperamide-induced glioma cell death.
PMID: 33461384
Autophagy Β· 2021
0.80
4
Inhibition of
PMID: 38506902
Elife Β· 2024
0.70
5
Ceramide-Induced Metabolic Stress Depletes Fumarate and Drives Mitophagy to Mediate Tumor Suppression.
PMID: 40540357
Cancer Res Β· 2025
0.60