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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EPSTI1
epithelial stromal interaction 1
Chromosome 13 · 13q14.11
NCBI Gene: 94240Ensembl: ENSG00000133106.16HGNC: HGNC:16465UniProt: Q96J88
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
ovarian neoplasmcardiovascular diseaseAlzheimer diseasechronic intestinal vascular insufficiency
✦AI Summary

EPSTI1 (epithelial-stromal interaction 1) is an interferon-stimulated gene located on chromosome 13 that plays multifaceted roles in immune regulation and disease pathogenesis. Primary Function: EPSTI1 functions as an immunomodulatory factor involved in M1 macrophage polarization and osteoclast differentiation 1. Mechanism: EPSTI1 regulates immune responses through multiple signaling pathways, including PKR/NF-κB signaling in osteoclastogenesis 1 and IFN-β-mediated HLA-A expression in myoblasts 2. The gene positively correlates with antigen presentation, chemokine signaling, and interferon pathways 2. Disease Relevance: EPSTI1 is significantly upregulated in systemic lupus erythematosus (SLE), where it correlates with disease activity (SLEDAI score) and T cell activation markers 3. In osteoporosis, EPSTI1 expression increases in osteoclasts and promotes bone resorption via PKR/NF-κB signaling 1. EPSTI1 is upregulated in dermatomyositis muscle tissues and promotes muscle inflammation 2. Clinical Significance: EPSTI1 serves as a potential diagnostic and prognostic biomarker for SLE 3 and stage III colon cancer, where higher EPSTI1 correlates with improved relapse-free survival and enhanced M1 macrophage infiltration 4. However, EPSTI1 shows contrasting effects in squamous cell carcinomas, functioning oncogenically in oral but suppressively in lung cancers 5, suggesting context-dependent roles in malignancy.

Sources cited
1
EPSTI1 is upregulated in SLE patient PBMCs, correlates with disease activity (SLEDAI score) and T cell activation genes, and has diagnostic value for SLE
PMID: 38507132
2
EPSTI1 promotes osteoclast differentiation and bone resorption through PKR/NF-κB signaling pathway and is associated with osteoporosis in GWAS studies
PMID: 39083969
3
EPSTI1 is upregulated in dermatomyositis PBMCs and muscle tissues, enhances IFN-β-mediated HLA-A expression and chemokine secretion in myoblasts, and promotes muscle inflammation
PMID: 40459882
4
EPSTI1 is a protective prognostic biomarker in stage III colon cancer, correlates with improved relapse-free survival, and associates with increased M1 macrophage and myeloid dendritic cell infiltration
PMID: 36330510
5
EPSTI1 is upregulated in oral squamous cell carcinoma (oncogenic role) but downregulated in lung squamous cell carcinoma (tumor-suppressive role), demonstrating context-dependent functions
PMID: 34738627
6
EPSTI1 is one of six differentially expressed genes identified in SLE and associates with immune cell infiltration patterns in the disease
PMID: 33468161
7
EPSTI1 is a novel gene induced by epithelial-stromal interaction, highly upregulated in invasive breast carcinomas, and expressed in tissues with extensive epithelial-stromal contact
PMID: 11991720
Disease Associationsⓘ20
ovarian neoplasmOpen Targets
0.32Weak
cardiovascular diseaseOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.24Weak
chronic intestinal vascular insufficiencyOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
malignant renal pelvis neoplasmOpen Targets
0.11Weak
breast benign neoplasmOpen Targets
0.10Weak
cystic kidney diseaseOpen Targets
0.08Suggestive
eye diseaseOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
oral squamous cell carcinomaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.05Suggestive
Genu valgumOpen Targets
0.05Suggestive
Genu varumOpen Targets
0.05Suggestive
hypothyroidismOpen Targets
0.05Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.05Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ISG15Protein interaction100%IFIT1Protein interaction95%STAT1Protein interaction89%CMPK2Protein interaction88%PARP14Protein interaction86%IFIH1Protein interaction86%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
48%
Heart
26%
Liver
22%
Ovary
17%
Brain
10%
Gene Interaction Network
Click a node to explore
EPSTI1ISG15IFIT1STAT1CMPK2PARP14IFIH1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96J88
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.59LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.24 [0.97–1.59]
RankingsWhere EPSTI1 stands among ~20K protein-coding genes
  • #11,331of 20,598
    Most Researched33
  • #15,620of 17,882
    Most Constrained (LOEUF)1.59
Genes detectedEPSTI1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of key biomarkers and immune infiltration in systemic lupus erythematosus by integrated bioinformatics analysis.
PMID: 33468161
J Transl Med · 2021
1.00
2
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
0.90
3
Identification of EPSTI1 as a new potential biomarker for SLE based on GEO database.
PMID: 38507132
Clin Rheumatol · 2024
0.80
4
Identification of EPSTI1, a novel gene induced by epithelial-stromal interaction in human breast cancer.
PMID: 11991720
Genomics · 2002
0.70
5
EPSTI1 as an immune biomarker predicts the prognosis of patients with stage III colon cancer.
PMID: 36330510
Front Immunol · 2022
0.60