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ERVH-1 (endogenous retrovirus group H member 1)

Written2021-02Luigi Cristiano
R&D Division, Prestige, Terranuova Bracciolini, Italy;

Abstract Endogenous retrovirus group H member 1, alias ERVH-1, is an integrated retroviral element of the human genome. Still poorly characterized it maps on Chromosome 4.

Keywords Endogenous retrovirus; ERVs; ERVH-1

(Note : for Links provided by Atlas : click)


Alias (NCBI)HERV-H4p15.2
HGNC (Hugo) ERVH-1
HGNC Alias symbHERV-H4p15.2
HGNC Previous nameendogenous retrovirus group H, member 1
LocusID (NCBI) 100616446
Atlas_Id 62907
Location 4p15.2  [Link to chromosome band 4p15]
Local_order The genomic location for ERVH-1gene is on chromosome 4: it starts at 23,723,262 and ends at 23,733,579 bp from pter (10,318 nt long) on minus strand (according to GRCh38/hg38, Dec 2013).
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)


Note It is known that human endogenous retroviruses (ERVs) and ERV-like sequences are part of the repetitive portions of the human genome and are remnants of infections of former exogenous retroviruses. They comprise approximately 8% of the human genome (Landers et al, 2001) and include solitary long terminal repeats (LTRs), non-retroviral sequences flanked by LTRs, and LTRs-like sequences (Mayer et al, 2011). ERVs are divided into various groups.
Endogenous retrovirus group H member 1 (ERVH-1), formerly HERV-H4p15.2, is an integrated retroviral element of the human genome and maps on Chromosome 4, in particular on 4p15.2
  Figure 1. Expression levels for ERVH-1. The figure shows the gene expression levels for ERVH-1 in human tissues, cell lines and cancers (from The structure of LncRNA for ERVH-1 is reported (reworked from )
Transcription Usually, human ERVs are silenced epigenetically and are not transcribed (Kewitz and Staege, 2013), however, they are found to be transcribed in particular situations, such as under pathological conditions, and usually their transcription is initiated by promoter sequences within the proviral LTRs (Mayer et al, 2011).
ERVH-1 gene produces a long non-coding RNA (LncRNA), named ERVH-1-201, of 639 nt. Its sequence is registered in GenBank (BC015108 or EU669866) and in Ensembl (ENSG00000251292). The tissue of origin in which it was first identified is renal cell carcinoma (hypernephroma) (Liang et al, 2009), but it has been detected in various human tissues (see figure 1) and preferentially in human embryonic stem cells (hESCs) (Lu et al, 2014).
Pseudogene No pseudogenes were observed for the ERVH-1 sequence.


Note It is well-known that human ERVs and ERV-like sequences no longer encode proteins because of the accumulation of nonsense mutations as a consequence of their ancient incorporation into the genome of the host (Mayer et al, 2011). For ERVH-1 no protein has been identified so far.

Implicated in

Note Expression of ERVs is usually switched off (Kewitz and Staege, 2013) but the expression of ERVs and ERV-like sequences have been reported for a large number of human diseases, including cancer, however, their exact involvement and mechanism of action remain to be clarified (Mayer et al, 2011). Studies on ERVH-1 are in their infancy.
Entity Human diseases
Note ERVH-1 has not yet been well characterized. However, some preliminary raw data (gene expression levels) are present in the literature on its relationship to kidney cancer (or renal cell carcinoma) (RCC)(Li et al, 2018) and a rare primary liver cancer without underlying liver disease, i.e. the fibrolamellar hepatocellular carcinoma (FLC) (Farber et al, 2017). Furthermore, its LncRNA was found in extracellular vesicles (EVs) released from mutant KRAS colorectal cancer (CRC) cells (Hinger et al,2018). ERVH-1 is also expressed in both Hodgkin's lymphoma (HL) cell lines and normal blood cells (Kewitz and Staege, 2013). Its functional role in these diseases is largely unknown.


Non coding RNA analysis in fibrolamellar hepatocellular carcinoma
Farber BA, Lalazar G, Simon EP, Hammond WJ, Requena D, Bhanot UK, La Quaglia MP, Simon SM
Oncotarget 2017; 9(12):10211-10227
PMID 29535801
Diverse Long RNAs Are Differentially Sorted into Extracellular Vesicles Secreted by Colorectal Cancer Cells
Hinger SA, Cha DJ, Franklin JL, Higginbotham JN, Dou Y, Ping J, Shu L, Prasad N, Levy S, Zhang B, Liu Q, Weaver AM, Coffey RJ, Patton JG
Cell Rep 2018; 25(3):715-725.e4
PMID 30332650
Expression and regulation of the endogenous retrovirus 3 in Hodgkin's lymphoma cells
Kewitz S, Staege MS
Front Oncol 2013; 3:179
PMID 23847767
Initial sequencing and analysis of the human genome
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, et al
Nature 2001; 409(6822):860-921
PMID 11237011
Dissecting LncRNA Roles in Renal Cell Carcinoma Metastasis and Characterizing Genomic Heterogeneity by Single-Cell RNA-seq
Li X, Meng X, Wei C, Zhou Y, Chen H, Huang H, Chen M
Mol Cancer Res 2018; 16(12):1879-1888
PMID 30082482
Identification and detection of a novel human endogenous retrovirus-related gene, and structural characterization of its related elements
Liang Q, Ding J and Zheng S
Genet Mol Biol 2009; 32(4): 704-708
PMID 21637440
The retrovirus HERVH is a long noncoding RNA required for human embryonic stem cell identity
Lu X, Sachs F, Ramsay L, Jacques P, Göke J, Bourque G, Ng HH
Nat Struct Mol Biol 2014; 21(4):423-5
PMID 24681886
A revised nomenclature for transcribed human endogenous retroviral loci
Mayer J, Blomberg J, Seal RL
Mob DNA 2011; 2(1):7
PMID 21542922


This paper should be referenced as such :
Cristiano L
ERVH-1 (endogenous retrovirus group H member 1);
Atlas Genet Cytogenet Oncol Haematol. in press

External links

HGNC (Hugo)ERVH-1   39053
Entrez_Gene (NCBI)ERVH-1    endogenous retrovirus group H member 1
GeneCards (Weizmann)ERVH-1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  - [Contig_View]  ERVH-1 [Vega]
TCGA cBioPortalERVH-1
AceView (NCBI)ERVH-1
Genatlas (Paris)ERVH-1
SOURCE (Princeton)ERVH-1
Genetics Home Reference (NIH)ERVH-1
Genomic and cartography
GoldenPath hg38 (UCSC)ERVH-1  -  
GoldenPath hg19 (UCSC)ERVH-1  -  
GoldenPathERVH-1 - [CytoView hg19]  ERVH-1 - [CytoView hg38]
Genome Data Viewer NCBIERVH-1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)BC015108 EU669866
RefSeq transcript (Entrez)
Consensus coding sequences : CCDS (NCBI)ERVH-1
Gene ExpressionERVH-1 [ NCBI-GEO ]   ERVH-1 [ EBI - ARRAY_EXPRESS ]   ERVH-1 [ SEEK ]   ERVH-1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERVH-1 [ Firebrowse - Broad ]
GenevisibleExpression of ERVH-1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100616446
GTEX Portal (Tissue expression)ERVH-1
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ERVH-1
Protein Interaction databases
Ontologies - Pathways
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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