ERVI-1 (endogenous retrovirus group I 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
9q22.1
LOCUSID
ALIAS
ERVI1,endogenous retrovirus group I, member 1

Abstract

Endogenous retrovirus group I member 1, alias ERVI-1, is an integrated retroviral element of the human genome. Still poorly characterized, it maps on Chromosome 9.

DNA/RNA

Note

Endogenous retrovirus group I member 1 (ERVI-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. ERVI-1 is member 1 of the group I of endogenous retroviruses and it maps on Chromosome 9, specifically on 9q22.1.

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).
Two partial mRNA sequences for ERVI-1 obtained from two distinct clones are recorded in GenBank. One sequence comes from the uterus, AK124340, 2,517 bp, and the other, AK124077, 1,860 bp, derives from cervical tumor tissue. They both encode for a protein not yet characterized. In addition, ERVI-1 mRNA was detected in thymus and prostate normal tissues.

Pseudogene

No observed pseudogenes for the ERVI-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). For ERVI-1 two amino acid sequences, BAC85768 (327 aa) and BAC85836 (327 aa), are reported for the same unnamed and poorly characterized protein. In both sequences, identical to each other (100% of identity, 0% of gaps) there is a HERV-Rb-like_HR1-HR2 domain inside the amino acid sequence, which is a transmembrane domain.

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). The studies on ERVI-1 are in their infancy.
Entity name
Human diseases
Note
ERVI-1 has not yet been well characterized and there are no publications regarding its involvement in pathologies. However, some preliminary raw data (mRNA expression levels) are present in the literature about its involvement in Duchennemuscular dystrophy (DMD) (Haslett et al, 2003; Chen et al, 2002). It was also detected in LNCaP prostate adenocarcinoma cell line (https://www.ncbi.nlm.nih.gov/geoprofiles/5848710).

Bibliography

Pubmed IDLast YearTitleAuthors
126983232003Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.Haslett JN et al
238477672013Expression and Regulation of the Endogenous Retrovirus 3 in Hodgkin's Lymphoma Cells.Kewitz S et al
112370112001Initial sequencing and analysis of the human genome.Lander ES et al
215429222011A revised nomenclature for transcribed human endogenous retroviral loci.Mayer J et al

Other Information

Locus ID:

NCBI: 100131068
HGNC: 39052

Variants:

dbSNP: 100131068
ClinVar: 100131068
COSMIC: ERVI-1

Citation

Luigi Cristiano

ERVI-1 (endogenous retrovirus group I member 1)

Atlas Genet Cytogenet Oncol Haematol. 2020-06-01

Online version: http://atlasgeneticsoncology.org/gene/79819/ervi-1