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ERV18-1 (endogenous retrovirus group 18 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 18 member 1, alias ERV18-1, is an integrated retroviral element of the human genome. Still poorly characterized, it maps on Chromosome 15 and it is reported for glioma and early rheumatoid arthritis.

Keywords Endogenous retrovirus; ERVs; ERV18-1; ERV-18

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)ERV-18
HGNC (Hugo) ERV18-1
HGNC Previous nameendogenous retrovirus group 18, member 1
LocusID (NCBI) 100133791
Atlas_Id 62901
Location 15q21.3  [Link to chromosome band 15q21]
Local_order Starts at 53,910,769 and ends at 53,914,712 bp from qter (Tokuyama et al, 2018; Mayer et al, 2011)
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 ERV18-1 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. ERV18-1 is member 1 of the group 18 of endogenous retroviruses and it maps on Chromosome 15, specifically on 15q21.3. In addition, it starts at 53,910,769 and ends at 53,914,712 bp from qter according to Tokuyama et colleagues and other authors (Tokuyama et al, 2018; Mayer et al, 2011). It was detected in human DNA samples from various donors, i.e. male Caucasian, male Asian, female Caucasian. It was also detected, but in less quantity, also from DNA samples of glioma of female Caucasian (Kjellman et al, 1995).
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).
ERV18-1 mRNA is 3,916 bp long with a reference sequence reported in GeneBank as AK126787. It is also present in the Ensembl database with a poorly characterized sequence named AC084759.3-201 (ENST00000624468.1). The sequence AK126787 shows 51.3% of GC content. The precise function of ERV18-1 is presently unclear.
Pseudogene No observed pseudogenes for the ERV18-1 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). In fact, for ERV18-1 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). ERV18-1 is poorly studied, however, it was detected in glioma, pancreatic ductal adenocarcinoma and it is reported also in a study about early rheumatoid arthritis.
  
Entity Brain and central nervous system (CNS) cancer
Note ERV18-1 was detected in a DNA sample of glioma of Caucasian female donor (Kjellman et al, 1995). However, its significance in this cancer is not still defined.
  
  
Entity Early rheumatoid arthritis (RA)
Note ERV18-1 DNA was detected to be upregulated in patients with early rheumatoid arthritis (RA) (Macèas-Segura et al, 2018). More studies are needed to understand the significance of this finding.
  
  
Entity Pancreatic ductal adenocarcinoma (PDAC)
Note ERV18-1 mRNA was detected in human pancreatic cancer cell line PANC-1, an in Vitro model for the study of pancreatic ductal adenocarcinoma (PDAC) (Huang et al, 2018).
  

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Citation

This paper should be referenced as such :
Cristiano L
ERV18-1 (endogenous retrovirus group 18 member 1)
Atlas Genet Cytogenet Oncol Haematol. 2021;25(1):20-21
Free journal version : [ pdf ]   [ DOI ]


External links

Nomenclature
HGNC (Hugo)ERV18-1   41524
Cards
AtlasERV18-1ID62901ch15q21
Entrez_Gene (NCBI)ERV18-1    endogenous retrovirus group 18 member 1
Aliases
GeneCards (Weizmann)ERV18-1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  - [Contig_View]  ERV18-1 [Vega]
TCGA cBioPortalERV18-1
AceView (NCBI)ERV18-1
Genatlas (Paris)ERV18-1
SOURCE (Princeton)ERV18-1
Genetics Home Reference (NIH)ERV18-1
Genomic and cartography
GoldenPath hg38 (UCSC)ERV18-1  -  
GoldenPath hg19 (UCSC)ERV18-1  -  
GoldenPathERV18-1 - [CytoView hg19]  ERV18-1 - [CytoView hg38]
Genome Data Viewer NCBIERV18-1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK126787
RefSeq transcript (Entrez)
Consensus coding sequences : CCDS (NCBI)ERV18-1
Gene ExpressionERV18-1 [ NCBI-GEO ]   ERV18-1 [ EBI - ARRAY_EXPRESS ]   ERV18-1 [ SEEK ]   ERV18-1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERV18-1 [ Firebrowse - Broad ]
GenevisibleExpression of ERV18-1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100133791
GTEX Portal (Tissue expression)ERV18-1
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ERV18-1
Protein Interaction databases
BioGRIDERV18-1
STRING (EMBL)ERV18-1
ZODIACERV18-1
Ontologies - Pathways
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXERV18-1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:17:21 CEST 2021

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