ERVH48-1 Gene

Name endogenous retrovirus group 48, member 1
Description Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nERVH48-1 encodes suppressyn, an endogenous retroviral protein expressed almost exclusively in the human placenta where it functions as a negative regulator of cell fusion by counteracting the fusogenic activity of syncytin‑1. Detailed analyses revealed that its placenta‑specific expression is orchestrated by a promoter embedded in a characteristic retroviral 5′ long terminal repeat (LTR) in combination with a downstream enhancer element—termed the ERV internal enhancer sequence (EIE)—that together ensure spatially restricted transcription. Moreover, the expression of ERVH48‑1 is tightly controlled by epigenetic mechanisms, particularly DNA methylation, and is further modulated by oxygen availability through the actions of hypoxia‑induced transcription factors HIF1α and HIF2α. These regulatory pathways are central to proper placental development and may play a crucial role in the pathogenesis of oxygenation‐related pregnancy disorders such as preeclampsia, pregnancy‑induced hypertension, and fetal growth restriction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jun Sugimoto, Danny J Schust, Makiko Sugimoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Controlling Trophoblast Cell Fusion in the Human Placenta-Transcriptional Regulation of Suppressyn, an Endogenous Inhibitor of Syncytin-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomolecules (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/biom13111627"}], "href": "https://doi.org/10.3390/biom13111627"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38002309"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38002309"}]}]}]}
Synonyms NDUFV3-AS1, C21ORF105
Proteins SUPYN_HUMAN
NCBI Gene ID 90625
API
Download Associations
Predicted Functions View ERVH48-1's ARCHS4 Predicted Functions.
Co-expressed Genes View ERVH48-1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ERVH48-1's ARCHS4 Predicted Functions.

Functional Associations

ERVH48-1 has 950 functional associations with biological entities spanning 6 categories (organism, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 21 datasets.

Click the + buttons to view associations for ERVH48-1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of ERVH48-1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of ERVH48-1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
DisGeNET Gene-Disease Associations diseases associated with ERVH48-1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with ERVH48-1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing ERVH48-1 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of ERVH48-1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of ERVH48-1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of ERVH48-1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of ERVH48-1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of ERVH48-1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of ERVH48-1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of ERVH48-1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of ERVH48-1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ERVH48-1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of ERVH48-1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations gene perturbations changing expression of ERVH48-1 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of ERVH48-1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of ERVH48-1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of ERVH48-1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of ERVH48-1 gene from the RummaGEO Gene Perturbation Signatures dataset.
Tabula Sapiens Gene-Cell Associations cell types with high or low expression of ERVH48-1 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.