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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ERV3-1
endogenous retrovirus group 3 member 1, envelope
Chromosome 7 · 7q11.21
NCBI Gene: 2086Ensembl: ENSG00000213462.5HGNC: HGNC:3454UniProt: Q14264
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
molecular_functionbiological_processneurodegenerative diseaseneuropathypoisoninglower urinary tract calculus
✦AI Summary

ERV3-1 is an endogenous retroviral envelope gene located on chromosome 7 that encodes a transmembrane protein functioning as a syncytin family member. 1 The ERV3-1 protein contains a transmembrane domain anchoring the envelope heterodimer to viral membranes and a fusion peptide mediating membrane fusion between viral and target cell membranes. 1 While ERV3-1 expression occurs throughout placental development in trophoblast tissue alongside major syncytin genes ERVW-1 and ERVFRD-1, its specific fusogenic contribution remains understudied. 1 ERV3-1 exhibits altered expression in multiple disease contexts. In acute myelogenous leukemia, ERV3-1 shows elevated expression in patient leukocytes, particularly in myeloid lineage cells, with protein localization at leukemic cell membranes. 2 In myelodysplastic syndrome, ERV3-1 upregulation correlates with dyserythropoiesis and activates the TLR3-IRF inflammatory axis linked to bone marrow failure pathogenesis. 3 Conversely, in breast cancer, ERV3-1 demonstrates tumor suppressor function with significantly lower expression in advanced stages, showing strong diagnostic performance (AUC: 0.819). 4 In colon cancer, ERV3-1 knockout reduces cellular invasion, migration, and in vivo tumor growth. 5 Additionally, the rs67047829 polymorphism introducing a premature termination codon in ERV3-1 associates with lower body mass index in Polish populations. 6 These divergent roles suggest ERV3-1 functions context-dependently in both placental fusion and cancer biology.

Sources cited
1
ERV3-1 is expressed in human trophoblast as a syncytin family member encoded by modified endogenous retroviral env genes; its transmembrane and fusion peptide domains function in membrane fusion
PMID: 33504453
2
ERV3-1 shows high expression in acute myelogenous leukemia patient leukocytes with protein localization at leukemic cell membranes, particularly in myeloid lineage cells
PMID: 33338509
3
ERV3-1 expression is elevated in myelodysplastic syndrome patients with dyserythropoiesis and correlates with TLR3-IRF axis activation linked to bone marrow failure
PMID: 33594613
4
ERV3-1 demonstrates tumor suppressor function in breast cancer with lower expression in advanced stages and higher grades, showing diagnostic AUC of 0.819
PMID: 38408442
5
HERV-R (ERV3-1) env gene knockout in colon cancer cells reduces invasion, migration ability, and in vivo tumor growth in mice
PMID: 41261789
6
rs67047829 polymorphism introducing a premature termination codon in ERV3-1 associates with significantly lower body mass index in Polish populations
PMID: 37816715
7
ERV3-1 is expressed in trophoblast tissue and its expression is induced by bisphenol A exposure
PMID: 31278978
8
ERV3-1 is differentially expressed in EBV-immortalized B cells from multiple sclerosis patients compared to controls
PMID: 36429047
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
neuropathyOpen Targets
0.16Weak
poisoningOpen Targets
0.15Weak
lower urinary tract calculusOpen Targets
0.15Weak
essential tremorOpen Targets
0.14Weak
alcohol drinkingOpen Targets
0.14Weak
optic neuritisOpen Targets
0.12Weak
glioblastoma multiformeOpen Targets
0.08Suggestive
Ewing sarcomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
acute lymphoblastic leukemiaOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
subarachnoid hemorrhageOpen Targets
0.03Suggestive
joint diseaseOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
systemic lupus erythematosusOpen Targets
0.03Suggestive
malariaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMIM46Shared pathway100%C8orf90Shared pathway100%SMIM44Shared pathway100%C21orf140Shared pathway100%CIMIP7Shared pathway100%ZNF862Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
73%
Ovary
62%
Brain
54%
Heart
44%
Liver
18%
Gene Interaction Network
Click a node to explore
ERV3-1SMIM46C8orf90SMIM44C21orf140CIMIP7ZNF862
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q14264
View on AlphaFold ↗
RankingsWhere ERV3-1 stands among ~20K protein-coding genes
  • #9,866of 20,598
    Most Researched42
Genes detectedERV3-1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human ERV3-1 env protein expression in various human tissues and tumours.
PMID: 24043713
J Clin Pathol · 2014
1.00
2
Syncytins expressed in human placental trophoblast.
PMID: 33504453
Placenta · 2021
0.90
3
HERV-R (ERV3-1) Env gene knockout reduces invasion, migration, and tumor growth in DLD1 colon cancer cells.
PMID: 41261789
BMB Rep · 2026
0.80
4
rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.
PMID: 37816715
Sci Rep · 2023
0.70
5
Expression of ERV3-1 in leukocytes of acute myelogenous leukemia patients.
PMID: 33338509
Gene · 2021
0.60