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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CSN1S1
casein alpha s1
Chromosome 4 · 4q13.3
NCBI Gene: 1446Ensembl: ENSG00000126545.15HGNC: HGNC:2445UniProt: P47710
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingresponse to estradiolresponse to progesteroneresponse to dehydroepiandrosteronecancerbreast cancerhepatocellular carcinomaneoplasm
✦AI Summary

CSN1S1 (casein alpha s1) is a multifunctional milk-derived protein with roles extending beyond nutrition into immunomodulation and disease pathogenesis. Primary function: CSN1S1 acts as an opioid antagonist with vasorelaxing activity [UniProt], though its predominant characterized role is immunomodulatory. Mechanism: CSN1S1 induces proinflammatory cytokine expression (IL-1β, IL-6, IL-8) in monocytic cells primarily through TLR4 receptor signaling and the inflammasome pathway 1, with effects inhibited by casein kinase 2 phosphorylation 1. CSN1S1 skews monocyte differentiation toward macrophages via ERK1/2 activation 2. In mammary tissue, CSN1S1 negatively regulates β-casein synthesis by inhibiting JAK2/STAT5a signaling 3. Disease relevance: CSN1S1 shows reduced expression and elevated promoter methylation in breast cancer tissues, correlating positively with survival 4. CSN1S1 variants act as recessive modifiers delaying Alzheimer's disease age-of-onset by ~6 years in PSEN1 mutation carriers 5. CSN1S1 is elevated in osteoarthritic meniscus 6 and identified as a novel biomarker in epithelial ovarian cancer 7. Clinical significance: CSN1S1 represents a potential therapeutic target and surveillance biomarker for breast cancer 4 and may inform understanding of milk's role in immune development.

Sources cited
1
CSN1S1 induces proinflammatory cytokines (IL-1β, IL-8, IL-6) via TLR4 signaling and inflammasome pathway; effects are phosphorylation-dependent
PMID: 26909866
2
CSN1S1 skews monocyte differentiation toward macrophages via ERK1/2 pathway, increasing phagocytic activity
PMID: 24083466
3
CSN1S1 negatively regulates β-casein synthesis by inhibiting JAK2/STAT5a signaling in mammary epithelial cells
PMID: 32828499
4
CSN1S1 shows low mRNA expression and high promoter methylation in breast cancer; acts as prognostic biomarker and therapeutic target
PMID: 33381666
5
CSN1S1 genetic variants act recessively to delay Alzheimer's disease age-of-onset by approximately 6 years in PSEN1 E280A carriers
PMID: 31664702
6
CSN1S1 is among the most prominently elevated transcripts in osteoarthritic meniscus tissue
PMID: 29258882
7
CSN1S1 identified as a novel differentially expressed gene biomarker in epithelial ovarian cancer
PMID: 37844484
8
CSN1S1 locus can be used for transgene integration in mammary glands; homozygous knockouts show no long-term health effects
PMID: 35568783
Disease Associationsⓘ20
cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
Helicobacter pylori infectious diseaseOpen Targets
0.03Suggestive
response to statinOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.02Suggestive
obstructive sleep apneaOpen Targets
0.02Suggestive
Invasive Breast CarcinomaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
mastitisOpen Targets
0.01Suggestive
laryngotracheoesophageal cleftOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
Charcot-Marie-Tooth disease type 3Open Targets
0.01Suggestive
Myasthenia gravisOpen Targets
0.01Suggestive
penile neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CSN2Protein interaction100%CSN3Protein interaction100%LALBAProtein interaction99%ARPC1BShared pathway20%STRN3Shared pathway20%MBD4Shared pathway20%
Tissue Expression6 tissues
Liver
0%
Ovary
0%
Lung
0%
Heart
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CSN1S1CSN2CSN3LALBAARPC1BSTRN3MBD4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P47710
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.27 [0.87–1.81]
RankingsWhere CSN1S1 stands among ~20K protein-coding genes
  • #11,133of 20,598
    Most Researched34
  • #16,645of 17,882
    Most Constrained (LOEUF)1.81
Genes detectedCSN1S1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Validation of CSN1S1 transcriptional expression, promoter methylation, and prognostic power in breast cancer using independent datasets.
PMID: 33381666
Biochem Biophys Rep · 2020
1.00
2
Evaluation of the α-casein (CSN1S1) locus as a potential target for a site-specific transgene integration.
PMID: 35568783
Sci Rep · 2022
0.90
3
Human casein alpha s1 (CSN1S1) skews in vitro differentiation of monocytes towards macrophages.
PMID: 24083466
BMC Immunol · 2013
0.80
4
Familial Alzheimer's Disease and Recessive Modifiers.
PMID: 31664702
Mol Neurobiol · 2020
0.70
5
Negative regulation of α
PMID: 32828499
J Dairy Sci · 2020
0.60