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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CERS4
ceramide synthase 4
Chromosome 19 · 19p13.2
NCBI Gene: 79603Ensembl: ENSG00000090661.14HGNC: HGNC:23747UniProt: Q53HF9
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsphingosine N-acyltransferase activitynucleoplasmceramide biosynthetic processgoutperipheral neuropathyHashimoto's thyroiditispoisoning
✦AI Summary

CERS4 (ceramide synthase 4) catalyzes de novo ceramide synthesis by converting sphinganine and long/very-long chain acyl-CoA substrates (C18:0-C22:0) into ceramides, primarily generating C18-C20 species 1. Located in the endoplasmic reticulum, CERS4 functions as a sphingolipid N-acyltransferase with roles extending beyond lipid metabolism into cellular signaling and immune regulation. Metabolically, CERS4 represents a key control point in obesity-related dysfunction. Intestinal MYC transcriptionally upregulates CERS4 in obese individuals; reducing CERS4 expression improves high-fat-diet-induced obesity, insulin resistance, and hepatic steatosis by promoting GLP-1 production 2. In liver, CERS4 forms complexes with ELOVL6 and PNPLA3 to regulate hepatic ceramide(d18:1/18:0) composition and insulin signaling 3. Clinically, CERS4 dysregulation drives cancer pathogenesis and immunotherapy responses. CERS4 overexpression in breast cancer activates oncogenic pathways (NF-κB, Akt/mTOR, Wnt/β-catenin) and promotes chemoresistance through ABC transporter upregulation and EMT 1. In triple-negative breast cancer, CERS4-altered ceramide metabolism triggers PD-L1 internalization and immunotherapy resistance 4. Conversely, high CERS4 expression predicts favorable anti-PD-1 responses in NSCLC via CERS4/Rhob/Tim-3 axis modulation 5. In colorectal cancer, CERS4 downregulation associates with KRAS mutations and increased vascular invasion 6. Additionally, CERS4 maintains hair follicle stem cell identity and skin barrier integrity through sphingolipid-dependent Wnt signaling control 7.

Sources cited
1
CERS4 (ceramide synthase 4) catalyzes de novo ceramide synthesis by converting sphinganine and long/very-long chain acyl-CoA substrates (C18:0-C22:0) into ceramides, primarily generating C18-C20 species .
PMID: 37885013
2
Intestinal MYC transcriptionally upregulates CERS4 in obese individuals; reducing CERS4 expression improves high-fat-diet-induced obesity, insulin resistance, and hepatic steatosis by promoting GLP-1 production .
PMID: 34211180
3
In liver, CERS4 forms complexes with ELOVL6 and PNPLA3 to regulate hepatic ceramide(d18:1/18:0) composition and insulin signaling .
PMID: 31529722
4
In triple-negative breast cancer, CERS4-altered ceramide metabolism triggers PD-L1 internalization and immunotherapy resistance .
PMID: 39046874
5
Conversely, high CERS4 expression predicts favorable anti-PD-1 responses in NSCLC via CERS4/Rhob/Tim-3 axis modulation .
PMID: 37453674
6
In colorectal cancer, CERS4 downregulation associates with KRAS mutations and increased vascular invasion .
PMID: 37758931
7
Additionally, CERS4 maintains hair follicle stem cell identity and skin barrier integrity through sphingolipid-dependent Wnt signaling control .
PMID: 39879198
Disease Associationsⓘ20
goutOpen Targets
0.40Moderate
peripheral neuropathyOpen Targets
0.39Weak
Hashimoto's thyroiditisOpen Targets
0.31Weak
poisoningOpen Targets
0.28Weak
response to antibioticOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
liver cancerOpen Targets
0.08Suggestive
infectionOpen Targets
0.06Suggestive
colitisOpen Targets
0.06Suggestive
Alopecia universalisOpen Targets
0.05Suggestive
hypotrichosis simplexOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
Clouston syndromeOpen Targets
0.05Suggestive
Bjornstad syndromeOpen Targets
0.05Suggestive
Björnstad syndromeOpen Targets
0.05Suggestive
pili tortiOpen Targets
0.05Suggestive
isolated familial wooly hair disorderOpen Targets
0.05Suggestive
Woolly hairOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CERS6Protein interaction98%ACER2Protein interaction97%ACER1Protein interaction97%ASAH1Protein interaction97%GALCProtein interaction97%GBA1Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Brain
70%
Ovary
46%
Lung
28%
Heart
27%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
CERS4CERS6ACER2ACER1ASAH1GALCGBA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53HF9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.47LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.18 [0.95–1.47]
RankingsWhere CERS4 stands among ~20K protein-coding genes
  • #12,122of 20,598
    Most Researched29
  • #15,006of 17,882
    Most Constrained (LOEUF)1.47
Genes detectedCERS4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Intestinal MYC modulates obesity-related metabolic dysfunction.
PMID: 34211180
Nat Metab · 2021
1.00
2
Alterations of ceramide synthesis induce PD-L1 internalization and signaling to regulate tumor metastasis and immunotherapy response.
PMID: 39046874
Cell Rep · 2024
0.90
3
CERS4 predicts positive anti-PD-1 response and promotes immunomodulation through Rhob-mediated suppression of CD8
PMID: 37453674
Pharmacol Res · 2023
0.80
4
Ceramide synthases CerS4 and CerS5 are upregulated by 17β-estradiol and GPER1 via AP-1 in human breast cancer cells.
PMID: 25451689
Biochem Pharmacol · 2014
0.70
5
Sphingolipid metabolism orchestrates establishment of the hair follicle stem cell compartment.
PMID: 39879198
J Cell Biol · 2025
0.60