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ERVFH21-1 (endogenous retrovirus group FH21 member 1)

Written2021-02Luigi Cristiano
R&D Division, Prestige, Terranuova Bracciolini, Italy;

Abstract Endogenous retrovirus group FH21 member 1, alias ERVFH21-1, is an integrated retroviral element of the human genome. Still poorly characterized, it maps on Chromosome 7.

Keywords Endogenous retrovirus; ERVs; ERVFH21-1

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Alias (NCBI)HERV-F(XA34)
HGNC (Hugo) ERVFH21-1
HGNC Alias symbHERV-F(XA34)
HGNC Previous nameendogenous retrovirus group FH21, member 1
LocusID (NCBI) 100616104
Atlas_Id 62903
Location 7p21.3  [Link to chromosome band 7p21]
Local_order Not yet characterized; unknown strand.
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 FH21 member 1 (ERVFH21-1), formerly HERV-F(XA34), 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 approximately 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. ERVFH21-1 is member 1 of the group F/H of endogenous retroviruses and maps on Chromosome 7, in particular on 7p21.3 (Okahara et al, 2004).
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). An mRNA sequence for ERVFH21-1 is registered in GenBank as AK023847. The tissue of origin in which it has been identified is the placenta (Kjellman et al, 1999).
Pseudogene No pseudogenes were observed for the ERVFH21-1 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 ERVFH21-1 no protein has been identified so far.

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). Studies on ERVFH21-1 are in their infancy.
Entity Human diseases
Note ERVFH21-1 has not yet been well characterized. However, some preliminary raw data (mRNA expression levels) are present in the literature on its relationship with Hodgkin's lymphoma (HL) (Kewitz and Staege, 2013), multiple sclerosis (MS) in Scandinavians (Suntsova et al, 2015) and HIV-associated dementia (HAD)(Christensen, 2016). Furthermore, ERVFH21-1 has been reported to be one of the most highly transcribed HERVs in both normal and cancerous tissues, in particular hematological cancers (Saini et al, 2020) and epitelial skin tumor (Kjellman et al, 1999). ERVFH21-1 mRNA expression has been found in some human hematopoietic cancer cell lines of myeloid lineage, i.e. KG1A, K562 and U937 (Patzke et al, 2002).


Human endogenous retroviruses in neurologic disease
Christensen T
APMIS 2016; 124(1-2):116-26
PMID 26818266
Expression and regulation of the endogenous retrovirus 3 in Hodgkin's lymphoma cells
Kewitz S, Staege MS
Front Oncol 2013; 3:179
PMID 23847767
HERV-F (XA34) is a full-length human endogenous retrovirus expressed in placental and fetal tissues
Kjellman C, Sjögren HO, Salford LG, Widegren B
Gene 1999 239(1):99-107
PMID 10571039
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, et al
Nature 2001; 409(6822):860-921
PMID 11237011
A revised nomenclature for transcribed human endogenous retroviral loci
Mayer J, Blomberg J, Seal RL
Mob DNA 2011; 2(1):7
PMID 21542922
Expression analyses of human endogenous retroviruses (HERVs): tissue-specific and developmental stage-dependent expression of HERVs
Okahara G, Matsubara S, Oda T, Sugimoto J, Jinno Y, Kanaya F
Genomics 2004; 84(6):982-90
PMID 15533715
Characterization of a novel human endogenous retrovirus, HERV-H/F, expressed in human leukemia cell lines
Patzke S, Lindeskog M, Munthe E, Aasheim HC
Virology 2002; 303(1):164-73
PMID 12482668
Human endogenous retroviruses form a reservoir of T cell targets in hematological cancers
Saini SK, rskov AD, Bjerregaard AM, Unnikrishnan A, Holmberg-Thydén S, Borch A, Jensen KV, Anande G, Bentzen AK, Marquard AM, Tamhane T, Treppendahl MB, Gang AO, Dufva IH, Szallasi Z, Ternette N, Pedersen AG, Eklund AC, Pimanda J, Grønbùk K, Hadrup SR.
Nat Commun 2020; 11(1):5660
PMID 33168830
Molecular functions of human endogenous retroviruses in health and disease
Suntsova M, Garazha A, Ivanova A, Kaminsky D, Zhavoronkov A, Buzdin A
Cell Mol Life Sci 2015; 72(19):3653-75
PMID 26082181


This paper should be referenced as such :
Cristiano L
ERVFH21-1 (endogenous retrovirus group FH21 member 1);
Atlas Genet Cytogenet Oncol Haematol. in press

External links

HGNC (Hugo)ERVFH21-1   39047
Entrez_Gene (NCBI)ERVFH21-1    endogenous retrovirus group FH21 member 1
GeneCards (Weizmann)ERVFH21-1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  - [Contig_View]  ERVFH21-1 [Vega]
TCGA cBioPortalERVFH21-1
AceView (NCBI)ERVFH21-1
Genatlas (Paris)ERVFH21-1
SOURCE (Princeton)ERVFH21-1
Genetics Home Reference (NIH)ERVFH21-1
Genomic and cartography
GoldenPath hg38 (UCSC)ERVFH21-1  -  
GoldenPath hg19 (UCSC)ERVFH21-1  -  
GoldenPathERVFH21-1 - [CytoView hg19]  ERVFH21-1 - [CytoView hg38]
Genome Data Viewer NCBIERVFH21-1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK023847
RefSeq transcript (Entrez)
Consensus coding sequences : CCDS (NCBI)ERVFH21-1
Gene ExpressionERVFH21-1 [ NCBI-GEO ]   ERVFH21-1 [ EBI - ARRAY_EXPRESS ]   ERVFH21-1 [ SEEK ]   ERVFH21-1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERVFH21-1 [ Firebrowse - Broad ]
GenevisibleExpression of ERVFH21-1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100616104
GTEX Portal (Tissue expression)ERVFH21-1
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ERVFH21-1
Protein Interaction databases
Ontologies - Pathways
PubMed3 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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