ERVWE1

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Endogenous retrovirus group W, member 1
Identifiers
Symbols ERVW-1 ; ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV; HERV7Q; HERVW; HERVWENV
External IDs OMIM604659 HomoloGene137309 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:
92.1 – 92.11 Mb
n/a
PubMed search [1] 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. In humans, the syncytin gene is called ERVWE1.[1][2][3]

Function[edit]

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.[4] 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.[3]

Clinical significance[edit]

Mutations in the HERV-W gene have been associated with multiple sclerosis[5] and schizophrenia.[6]

References[edit]

  1. ^ Alliel PM, Perin JP, Pierig R, Nussbaum JL, Menard A, Rieger F (Dec 1998). "Endogenous retroviruses and multiple sclerosis. II. HERV-7q". C R Acad Sci III 321 (10): 857–63. doi:10.1016/S0764-4469(99)80026-2. PMID 9835022. 
  2. ^ Blond JL, Beseme 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". J Virol 73 (2): 1175–85. PMC 103938. PMID 9882319. 
  3. ^ a b "Entrez Gene: ERVWE1 endogenous retroviral family W, env(C7), member 1 (syncytin)". 
  4. ^ Lavialle C, Cornelis G, Dupressoir A, Esnault C, Heidmann O, Vernochet C, Heidmann T. (Aug 2013). "Paleovirology of 'syncytins', retroviral env genes exapted for a role in placentation.". Philos Trans R Soc Lond B Biol Sci. 368 (1626): 20120507. doi:10.1098/rstb.2012.0507. PMID 23938756. 
  5. ^ 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. 
  6. ^ Karlsson H, Schröder J, Bachmann S, Bottmer C, Yolken RH (January 2004). "HERV-W-related RNA detected in plasma from individuals with recent-onset schizophrenia or schizoaffective disorder". Mol. Psychiatry 9 (1): 12–3. doi:10.1038/sj.mp.4001439. PMID 14571258. Lay summaryDiscover Magazine. 

Further reading[edit]

External links[edit]