ERV18-1 (endogenous retrovirus group 18 member 1)

2020-06-01   Luigi Cristiano 

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

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
ERV-18

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.

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.

Proteins

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

Top 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 name
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 name
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 name
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).

Bibliography

Pubmed IDLast YearTitleAuthors
298963032018MMP1/PAR1/SP/NK1R paracrine loop modulates early perineural invasion of pancreatic cancer cells.Huang C et al
238477672013Expression and Regulation of the Endogenous Retrovirus 3 in Hodgkin's Lymphoma Cells.Kewitz S et al
76650721995The Y chromosome: a graveyard for endogenous retroviruses.Kjellman C et al
112370112001Initial sequencing and analysis of the human genome.Lander ES et al
295847562018Transcriptional signature associated with early rheumatoid arthritis and healthy individuals at high risk to develop the disease.Macías-Segura N et al
215429222011A revised nomenclature for transcribed human endogenous retroviral loci.Mayer J et al
304553042018ERVmap analysis reveals genome-wide transcription of human endogenous retroviruses.Tokuyama M et al

Other Information

Locus ID:

NCBI: 100133791
HGNC: 41524

Variants:

dbSNP: 100133791
ClinVar: 100133791
COSMIC: ERV18-1

Citation

Luigi Cristiano

ERV18-1 (endogenous retrovirus group 18 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2020-06-01

Online version: http://atlasgeneticsoncology.org/gene/62901/erv18-1