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ERVE-1 (endogenous retrovirus group E member 1)

Written2020-06Luigi Cristiano
R&D Dep. (Aesthetic and medical biotechnologies research unit), Prestige, Terranuova Bracciolini, Italy; prestige.infomed@gmail.com - luigicristiano@libero.it

Abstract Endogenous retrovirus group E member 1, alias ERVE-1, is an integrated retroviral element of the human genome. Still poorly characterized, it maps on Chromosome 17 and it is reported for multiple sclerosis and systemic lupus erythematosus.

Keywords Endogenous retrovirus; ERVs; ERVE-1

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)ERVE1
endogenous retroviral sequence E, 1
endogenous retrovirus group E, member 1
HERV-E1
HERVE1
TCONS_00025599
Lnc-IFT20-4
HERVE_a
HGNC (Hugo) ERVE-1
HGNC Alias symbHERV-E1
HERVE1
TCONS_00025599
HGNC Previous nameERVE1
HGNC Previous nameendogenous retroviral sequence E, 1
 endogenous retrovirus group E, member 1
LocusID (NCBI) 85314
Atlas_Id 40490
Location 17q11.2  [Link to chromosome band 17q11]
Local_order Starts at 28,232,590 and ends at 28,235,281 bp from qter, reverse strand (GRCh38/hg38)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

DNA/RNA

Note Endogenous retrovirus group E member 1 (ERVE-1) is an integrated retroviral element of the human genome. 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 about 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. ERVE-1 is member 1 of the group E of endogenous retroviruses and it maps on Chromosome 17, specifically on 17q11.2 (Campos-Sánchez and Sandoval-Carvajal, 2018; Taruscio et al, 2002). In addition, it starts at 28,232,590 and ends at 28,235,281 bp from qter (reverse strand). It is present in the Ensembl database with a sequence named ENSG00000267259. ERVE-1 DNA sequence shows a strong promoter sequence site located at +0.8 kb from the gene transcription start site.
 
  Figure. 1. ERVE-1 gene. The figure shows the locus on chromosome 17 of the ERVE-1 gene, its DNA and mRNA (reworked from https://www.ncbi.nlm.nih.gov/gene; http://grch37.ensembl.org; www.genecards.org)
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).
ERVE-1 mRNA is 2,691 bp long with a reference sequence reported in GeneBank as BC037342. It is also present in the Ensembl database with a sequence named ERVE-1-201 (ENST00000592016.1) and it is considered to be a long non-coding RNA (lncRNA). Abundant ERVE-1 transcript was found in normal pancreas and thyroid tissues (Shiroma et al, 2001) and this suggests that it may play a role in their physiologic functions. In addition, the long terminal repeat (LTR)-derived promoter of ERVE-1 was found hypomethylated in placental cells whereas it was detected hypermethylated in blood cells (Ruebner et al, 2013; Reiss et al, 2007). This suggests that ERVE-1 could be transcribed in this tissue compared to others in which it is epigenetically silenced.
Pseudogene No observed pseudogenes for the ERVE-1 sequence.

Protein

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 ERVE-1 sequence there is no protein reported.

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). ERVE-1 is poorly studied, however, it was reported for multiple sclerosis (MS) and Systemic lupus erythematosus (SLE).
  
Entity Multiple sclerosis (MS)
Note ERVE-1 could have biological functions in the pathogenesis of multiple sclerosis (MS) (Kim et al, 2008; Antony et al, 2007), however, as the disease is very complex, further studies are needed to understand its contribution.
  
  
Entity Systemic lupus erythematosus (SLE)
Note The expression level of ERVE-1 mRNA is found higher in lupus CD4+ T cells respect to healthy controls while the methylation of the LTR-derived promoter of ERVE-1 is found low in these patients (Suntsova et al, 2015; Wu et al, 2015). These data suggest that ERVE-1 is positively correlated with systemic lupus erythematosus (SLE) disease and that it is involved in its development (Wu et al, 2015).
  

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Citation

This paper should be referenced as such :
Cristiano L
ERVE-1 (endogenous retrovirus group E member 1);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/ERVE-1ID40490ch17q11.html


External links

Nomenclature
HGNC (Hugo)ERVE-1   14602
Cards
AtlasERVE-1ID40490ch17q11
Entrez_Gene (NCBI)ERVE-1  85314  endogenous retrovirus group E member 1
AliasesERVE1; HERV-E1; HERVE1
GeneCards (Weizmann)ERVE-1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  - [Contig_View]  ERVE-1 [Vega]
TCGA cBioPortalERVE-1
AceView (NCBI)ERVE-1
Genatlas (Paris)ERVE-1
WikiGenes85314
SOURCE (Princeton)ERVE-1
Genetics Home Reference (NIH)ERVE-1
Genomic and cartography
GoldenPath hg38 (UCSC)ERVE-1  -  
GoldenPath hg19 (UCSC)ERVE-1  -  
GoldenPathERVE-1 - [CytoView hg19]  ERVE-1 - [CytoView hg38]
genome Data Viewer NCBIERVE-1 [Mapview hg19]  
OMIM606601   
Gene and transcription
Genbank (Entrez)BC037342
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERVE-1
Gene ExpressionERVE-1 [ NCBI-GEO ]   ERVE-1 [ EBI - ARRAY_EXPRESS ]   ERVE-1 [ SEEK ]   ERVE-1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERVE-1 [ Firebrowse - Broad ]
GenevisibleExpression of ERVE-1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85314
GTEX Portal (Tissue expression)ERVE-1
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ERVE-1
DMDM Disease mutations85314
Blocks (Seattle)ERVE-1
Protein Interaction databases
BioGRIDERVE-1
STRING (EMBL)ERVE-1
ZODIACERVE-1
Ontologies - Pathways
Huge Navigator ERVE-1 [HugePedia]
snp3D : Map Gene to Disease85314
BioCentury BCIQERVE-1
ClinGenERVE-1
Clinical trials, drugs, therapy
Protein Interactions : CTD85314
Pharm GKB GenePA27867
Clinical trialERVE-1
Miscellaneous
canSAR (ICR)ERVE-1 (select the gene name)
HarmonizomeERVE-1
DataMed IndexERVE-1
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERVE-1
EVEXERVE-1
GoPubMedERVE-1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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