ERVWE1
| Endogenous retrovirus group W, member 1 | |||||||||||||
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| 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 | ||||||||||||
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| 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 | 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
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
Mutations in the ERVWE1 gene have been associated with multiple sclerosis[5] and schizophrenia.[6]
References
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "Entrez Gene: ERVWE1 endogenous retroviral family W, env(C7), member 1 (syncytin)".
- ↑ 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.
- ↑ 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.
- ↑ 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 summary – Discover Magazine.
Further reading
- Muir A, Lever A, Moffett A (2004). "Expression and functions of human endogenous retroviruses in the placenta: an update". Placenta. 25 Suppl A: S16–25. doi:10.1016/j.placenta.2004.01.012. PMID 15033302.
- Voisset C; Blancher A; Perron H et al. (1999). "Phylogeny of a novel family of human endogenous retrovirus sequences, HERV-W, in humans and other primates". AIDS Res. Hum. Retroviruses 15 (17): 1529–33. doi:10.1089/088922299309810. PMID 10580403.
- Mi S; Lee X; Li X et al. (2000). "Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis". Nature 403 (6771): 785–9. doi:10.1038/35001608. PMID 10693809.
- Blond JL; Lavillette D; Cheynet V et al. (2000). "An Envelope Glycoprotein of the Human Endogenous Retrovirus HERV-W Is Expressed in the Human Placenta and Fuses Cells Expressing the Type D Mammalian Retrovirus Receptor". J. Virol. 74 (7): 3321–9. doi:10.1128/JVI.74.7.3321-3329.2000. PMC 111833. PMID 10708449.
- Dias Neto E; Correa RG; Verjovski-Almeida S et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Voisset C; Bouton O; Bedin F et al. (2000). "Chromosomal distribution and coding capacity of the human endogenous retrovirus HERV-W family". AIDS Res. Hum. Retroviruses 16 (8): 731–40. doi:10.1089/088922200308738. PMID 10826480.
- An DS, Xie Ym , Chen IS (2001). "Envelope Gene of the Human Endogenous Retrovirus HERV-W Encodes a Functional Retrovirus Envelope". J. Virol. 75 (7): 3488–9. doi:10.1128/JVI.75.7.3488-3489.2001. PMC 114144. PMID 11238877.
- Kim HS, Lee WH (2001). "Human endogenous retrovirus HERV-W family: chromosomal localization, identification, and phylogeny". AIDS Res. Hum. Retroviruses 17 (7): 643–8. doi:10.1089/088922201300119752. PMID 11375061.
- Perron H; Jouvin-Marche E; Michel M et al. (2001). "Multiple sclerosis retrovirus particles and recombinant envelope trigger an abnormal immune response in vitro, by inducing polyclonal Vbeta16 T-lymphocyte activation". Virology 287 (2): 321–32. doi:10.1006/viro.2001.1045. PMID 11531410.
- Knerr I, Beinder E, Rascher W (2002). "Syncytin, a novel human endogenous retroviral gene in human placenta: evidence for its dysregulation in preeclampsia and HELLP syndrome". Am. J. Obstet. Gynecol. 186 (2): 210–3. doi:10.1067/mob.2002.119636. PMID 11854637.
- Alliel PM; Périn JP; Goudou D et al. (2002). "The HERV-W/7q family in the human genome. Potential for protein expression and gene regulation". Cell. Mol. Biol. (Noisy-le-grand) 48 (2): 213–7. PMID 11990458.
- Lavillette D; Marin M; Ruggieri A et al. (2002). "The Envelope Glycoprotein of Human Endogenous Retrovirus Type W Uses a Divergent Family of Amino Acid Transporters/Cell Surface Receptors". J. Virol. 76 (13): 6442–52. doi:10.1128/JVI.76.13.6442-6452.2002. PMC 136247. PMID 12050356.
- Kudo Y, Boyd CA (2003). "Changes in expression and function of syncytin and its receptor, amino acid transport system B(0) (ASCT2), in human placental choriocarcinoma BeWo cells during syncytialization". Placenta 23 (7): 536–41. doi:10.1053/plac.2002.0839. PMID 12175968.
- Yu C; Shen K; Lin M et al. (2003). "GCMa regulates the syncytin-mediated trophoblastic fusion". J. Biol. Chem. 277 (51): 50062–8. doi:10.1074/jbc.M209316200. PMID 12397062.
- Smallwood A; Papageorghiou A; Nicolaides K et al. (2004). "Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta". Biol. Reprod. 69 (1): 286–93. doi:10.1095/biolreprod.102.013078. PMID 12620933.
- Ponferrada VG, Mauck BS, Wooley DP (2003). "The envelope glycoprotein of human endogenous retrovirus HERV-W induces cellular resistance to spleen necrosis virus". Arch. Virol. 148 (4): 659–75. doi:10.1007/s00705-002-0960-x. PMID 12664292.
- Frendo JL; Olivier D; Cheynet V et al. (2003). "Direct Involvement of HERV-W Env Glycoprotein in Human Trophoblast Cell Fusion and Differentiation". Mol. Cell. Biol. 23 (10): 3566–74. doi:10.1128/MCB.23.10.3566-3574.2003. PMC 164757. PMID 12724415.
- Kudo Y, Boyd CA, Sargent IL, Redman CW (2003). "Hypoxia alters expression and function of syncytin and its receptor during trophoblast cell fusion of human placental BeWo cells: implications for impaired trophoblast syncytialisation in pre-eclampsia". Biochim. Biophys. Acta 1638 (1): 63–71. doi:10.1016/s0925-4439(03)00043-7. PMID 12757936.
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