ERVWE1

Endogenous retrovirus group W, member 1
Identifiers
Symbols ERVW-1 ; ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV; HERV7Q; HERVW; HERVWENV
External IDs OMIM: 604659 HomoloGene: 137309 GeneCards: ERVW-1 Gene
Orthologs
Species Human Mouse
Entrez 30816 n/a
Ensembl ENSG00000242950 n/a
UniProt Q9UQF0 n/a
RefSeq (mRNA) NM_001130925 n/a
RefSeq (protein) NP_001124397 n/a
Location (UCSC) Chr 7:
92.47 – 92.48 Mb
n/a
PubMed search n/a

HERV-W_7q21.2 provirus ancestral Env polyprotein also known as syncytin or enverin, is a protein encoded by an endogenous viral element.[1] In humans, the syncytin gene is called ERVWE1.[2][3][4]

Function

Syncytins are genes encoding proteins derived from the envelope protein of endogenous retroviral elements that have been captured and domesticated on multiple occasions and independently in diverse mammalian species.[5] Gene knockout of syncytin genes in mice provides evidence for their absolute requirement for placenta development and embryo survival.

The human ERVWE1 locus is derived from a human endogenous retrovirus-W (HERV-W) provirus located on chromosome 7. This provirus has inactivating mutations in the gag and pol genes, but the envelope glycoprotein gene has been selectively preserved. The product of this gene, syncytin, is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer.[4]

Clinical significance

Mutations in the ERVWE1 gene have been associated with multiple sclerosis[6] and schizophrenia.[7]

References

  1. Perot P, Bolze PA, Mallet F. (2012) From Viruses to Genes: Syncytins. In: Witzany G (ed). Viruses: Essential Agents of Life, Springer, Dordrecht, pp 325-361.
  2. Alliel PM, Périn JP, Pierig R, Nussbaum JL, Ménard A, Rieger F (Oct 1998). "Endogenous retroviruses and multiple sclerosis. II. HERV-7q". Comptes Rendus De L'Académie Des Sciences. Série III, Sciences De La Vie 321 (10): 857–63. doi:10.1016/S0764-4469(99)80026-2. PMID 9835022.
  3. Blond JL, Besème F, Duret L, Bouton O, Bedin F, Perron H, Mandrand B, Mallet F (Feb 1999). "Molecular characterization and placental expression of HERV-W, a new human endogenous retrovirus family". Journal of Virology 73 (2): 1175–85. PMC 103938. PMID 9882319.
  4. 1 2 "Entrez Gene: ERVWE1 endogenous retroviral family W, env(C7), member 1 (syncytin)".
  5. Lavialle C, Cornelis G, Dupressoir A, Esnault C, Heidmann O, Vernochet C, Heidmann T (Sep 2013). "Paleovirology of 'syncytins', retroviral env genes exapted for a role in placentation". Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences 368 (1626): 20120507. doi:10.1098/rstb.2012.0507. PMID 23938756.
  6. Laufer G, Mayer J, Mueller BF, Mueller-Lantzsch N, Ruprecht K (2009). "Analysis of transcribed human endogenous retrovirus W env loci clarifies the origin of multiple sclerosis-associated retrovirus env sequences". Retrovirology 6: 37. doi:10.1186/1742-4690-6-37. PMC 2672075. PMID 19368703.
  7. Karlsson H, Schröder J, Bachmann S, Bottmer C, Yolken RH (Jan 2004). "HERV-W-related RNA detected in plasma from individuals with recent-onset schizophrenia or schizoaffective disorder". Molecular Psychiatry 9 (1): 12–3. doi:10.1038/sj.mp.4001439. PMID 14571258. Lay summary Discover Magazine.

Further reading

External links

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