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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SAMSN1
SAM domain, SH3 domain and nuclear localization signals 1
Chromosome 21 · 21q11.2
NCBI Gene: 64092Ensembl: ENSG00000155307.19HGNC: HGNC:10528UniProt: A0A2R8Y4K8
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphotyrosine residue bindingRNA bindingnucleusnucleoplasmmultiple myelomaatopic eczemaovarian neoplasmtooth disease
✦AI Summary

SAMSN1 is a multifunctional immune regulator that acts primarily as a negative checkpoint on adaptive and innate immunity. As a negative regulator of B-cell activation 1, SAMSN1 suppresses immune responses through distinct mechanisms in different cell types. In macrophages, SAMSN1 binds KEAP1 to disrupt the KEAP1-NRF2 complex, promoting nuclear NRF2 translocation and upregulation of coinhibitory molecules (CD48, CD86, CEACAM1) that drive T-cell exhaustion and immunosuppression in sepsis 1. In NK cells, SAMSN1 functions as an immune checkpoint that restrains anti-tumor immunity in hepatocellular carcinoma by suppressing NK cell activation, proliferation, and granzyme B production 2. The gene exhibits opposing roles in cancer: it is downregulated in hepatocellular carcinoma and acts as a tumor suppressor through promoter hypermethylation 3, but is upregulated in glioblastoma where high expression correlates with poor prognosis 4. In neonatal brain injury, SAMSN1 upregulation is detrimental, and its silencing provides neuroprotection by enhancing neuronal cell viability 5. As a differentiation-related gene in tumor-associated macrophages, SAMSN1 downregulation associates with better prognosis in lung adenocarcinoma 6. SAMSN1 deletion in multiple myeloma models substantially reduces tumor burden, though some effects involve host immune-mediated graft rejection 78.

Sources cited
1
As a negative regulator of B-cell activation , SAMSN1 suppresses immune responses through distinct mechanisms in different cell types.
PMID: 40293473
2
In NK cells, SAMSN1 functions as an immune checkpoint that restrains anti-tumor immunity in hepatocellular carcinoma by suppressing NK cell activation, proliferation, and granzyme B production .
PMID: 41565668
3
The gene exhibits opposing roles in cancer: it is downregulated in hepatocellular carcinoma and acts as a tumor suppressor through promoter hypermethylation , but is upregulated in glioblastoma where high expression correlates with poor prognosis .
PMID: 25805236
4
The gene exhibits opposing roles in cancer: it is downregulated in hepatocellular carcinoma and acts as a tumor suppressor through promoter hypermethylation , but is upregulated in glioblastoma where high expression correlates with poor prognosis .
PMID: 24278465
5
In neonatal brain injury, SAMSN1 upregulation is detrimental, and its silencing provides neuroprotection by enhancing neuronal cell viability .
PMID: 37786523
6
As a differentiation-related gene in tumor-associated macrophages, SAMSN1 downregulation associates with better prognosis in lung adenocarcinoma .
PMID: 36969247
Disease Associationsⓘ20
multiple myelomaOpen Targets
0.34Weak
atopic eczemaOpen Targets
0.33Weak
ovarian neoplasmOpen Targets
0.29Weak
tooth diseaseOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.24Weak
esophageal cancerOpen Targets
0.22Weak
peripheral vascular diseaseOpen Targets
0.20Weak
post term pregnancyOpen Targets
0.19Weak
edemaOpen Targets
0.12Weak
brain compressionOpen Targets
0.11Weak
Miyoshi myopathyOpen Targets
0.10Suggestive
SepsisOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
streptococcal infectionOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
acute lung injuryOpen Targets
0.06Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.05Suggestive
Hodgkins lymphomaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SAMD5Shared pathway33%PPM1KShared pathway25%ANKRD54Shared pathway25%RASAL3Shared pathway25%OBSCNShared pathway20%RASA2Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
30%
Liver
3%
Heart
3%
Brain
3%
Ovary
1%
Gene Interaction Network
Click a node to explore
SAMSN1SAMD5PPM1KANKRD54RASAL3OBSCNRASA2
PROTEIN STRUCTURE
Preparing viewer…
PDB6UZJ · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.56–1.11]
RankingsWhere SAMSN1 stands among ~20K protein-coding genes
  • #13,290of 20,598
    Most Researched24
  • #11,425of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedSAMSN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Differentiation-related genes in tumor-associated macrophages as potential prognostic biomarkers in non-small cell lung cancer.
PMID: 36969247
Front Immunol · 2023
1.00
2
SAMSN1 causes sepsis immunosuppression by inducing macrophages to express coinhibitory molecules that cause T-cell exhaustion via KEAP1-NRF2 signaling.
PMID: 40293473
Chin Med J (Engl) · 2025
0.90
3
SAMSN1 restrains NK cell mediated anti-tumor immunity in hepatocellular carcinoma.
PMID: 41565668
Nat Commun · 2026
0.80
4
Suppression of SAMSN1 contributes to neuroprotection in neonatal rats suffering from hypoxic-ischemic encephalopathy injury.
PMID: 37786523
Ibrain · 2023
0.70
5
Suppression of SAMSN1 Expression is Associated with the Malignant Phenotype of Hepatocellular Carcinoma.
PMID: 25805236
Ann Surg Oncol · 2015
0.60