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ERVI-1 (endogenous retrovirus group I member 1)

Written2020-06Luigi Cristiano
R&D Dep. (Aesthetic and medical biotechnologies research unit), Prestige, Terranuova Bracciolini, Italy; -

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.

Keywords Endogenous retrovirus; ERVs; ERVI-1

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endogenous retrovirus group I, member 1
HGNC (Hugo) ERVI-1
HGNC Previous nameendogenous retrovirus group I, member 1
LocusID (NCBI) 100131068
Atlas_Id 79819
Location 9q22.1  [Link to chromosome band 9q22]
Local_order Not yet characterized
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 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.


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

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 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 (


Gene expression profiling of Duchenne muscular dystrophy skeletal muscle
Haslett JN, Sanoudou D, Kho AT, Han M, Bennett RR, Kohane IS, Beggs AH, Kunkel LM
Neurogenetics 2003 Aug;4(4):163-71.
PMID 12698323
Expression and Regulation of the Endogenous Retrovirus 3 in Hodgkin's Lymphoma Cells
Kewitz S, Staege MS
Front Oncol 2013 Jul 10;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, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blöcker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J,
Nature 2001 Feb 15;409(6822):860-921.
PMID 11237011
A revised nomenclature for transcribed human endogenous retroviral loci
Mayer J, Blomberg J, Seal RL
Mob DNA 2011 May 4;2(1):7.
PMID 21542922


This paper should be referenced as such :
Cristiano L
ERVI-1 (endogenous retrovirus group I member 1)
Atlas Genet Cytogenet Oncol Haematol. 2021;25(2):66-67
Free journal version : [ pdf ]   [ DOI ]

External links

HGNC (Hugo)ERVI-1   39052
Entrez_Gene (NCBI)ERVI-1    endogenous retrovirus group I member 1
GeneCards (Weizmann)ERVI-1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  - [Contig_View]  ERVI-1 [Vega]
TCGA cBioPortalERVI-1
AceView (NCBI)ERVI-1
Genatlas (Paris)ERVI-1
SOURCE (Princeton)ERVI-1
Genetics Home Reference (NIH)ERVI-1
Genomic and cartography
GoldenPath hg38 (UCSC)ERVI-1  -  
GoldenPath hg19 (UCSC)ERVI-1  -  
GoldenPathERVI-1 - [CytoView hg19]  ERVI-1 - [CytoView hg38]
Genome Data Viewer NCBIERVI-1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK124077 AK124340
RefSeq transcript (Entrez)
Consensus coding sequences : CCDS (NCBI)ERVI-1
Gene ExpressionERVI-1 [ NCBI-GEO ]   ERVI-1 [ EBI - ARRAY_EXPRESS ]   ERVI-1 [ SEEK ]   ERVI-1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERVI-1 [ Firebrowse - Broad ]
GenevisibleExpression of ERVI-1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100131068
GTEX Portal (Tissue expression)ERVI-1
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ERVI-1
Protein Interaction databases
Ontologies - Pathways
PubMed1 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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