Unc-93 homolog B1 (C. elegans), znan i kao UNC93B1, jest protein koji je kod ljudi kodiran genom UNC93B1.[5][6]
Kratke činjenice Identifikatori, Aliasi ...
Zatvori
Dužina polipeptidnog lanca je 597 aminokiselina, а molekulska težina 66.631 Da.[7]
| 10 | | 20 | | 30 | | 40 | | 50 |
|---|
| MEAEPPLYPM | | AGAAGPQGDE | | DLLGVPDGPE | | APLDELVGAY | | PNYNEEEEER |
| RYYRRKRLGV | | LKNVLAASAG | | GMLTYGVYLG | | LLQMQLILHY | | DETYREVKYG |
| NMGLPDIDSK | | MLMGINVTPI | | AALLYTPVLI | | RFFGTKWMMF | | LAVGIYALFV |
| STNYWERYYT | | LVPSAVALGM | | AIVPLWASMG | | NYITRMAQKY | | HEYSHYKEQD |
| GQGMKQRPPR | | GSHAPYLLVF | | QAIFYSFFHL | | SFACAQLPMI | | YFLNHYLYDL |
| NHTLYNVQSC | | GTNSHGILSG | | FNKTVLRTLP | | RSGNLIVVES | | VLMAVAFLAM |
| LLVLGLCGAA | | YRPTEEIDLR | | SVGWGNIFQL | | PFKHVRDYRL | | RHLVPFFIYS |
| GFEVLFACTG | | IALGYGVCSV | | GLERLAYLLV | | AYSLGASAAS | | LLGLLGLWLP |
| RPVPLVAGAG | | VHLLLTFILF | | FWAPVPRVLQ | | HSWILYVAAA | | LWGVGSALNK |
| TGLSTLLGIL | | YEDKERQDFI | | FTIYHWWQAV | | AIFTVYLGSS | | LHMKAKLAVL |
| LVTLVAAAVS | | YLRMEQKLRR | | GVAPRQPRIP | | RPQHKVRGYR | | YLEEDNSDES |
| DAEGEHGDGA | | EEEAPPAGPR | | PGPEPAGLGR | | RPCPYEQAQG | | GDGPEEQ |
Ovaj gen kodira protein sličan proteinu Caenorhabditis elegans unc93. Protein Unc93 uključen je u regulaciju ili koordinaciju mišićne kontrakcije te oble gliste.[5]
Gen se nalazi na dugom kraku hromosoma 11 (11q13) na minus (Crick) sekvenci[6] i prvi put je identifikovan 2002.[6] Ovaj protein je intrinzični membranski protein koji pokriva membranu dvanaest puta. Nalazi se u endoplazmatskom retikulumu i visoko je konzerviran.
Protein Unc93B1 uključen je u urođeni imunski odgovor. Defekti proteina predisponiraju preosjetljivost na infekcije herpes simplex virus i mišjeg citomegalovirusa.[8] Mehanizam nije jasan, ali poznato je da Unc93B1 stupa u interakciju sa toll-likim receptorima TLR3, TLR7 i TLR9 i čini se da je uključen u promet ovih receptora unutar ćelije.[9][10] Mutacije u ovom genu dovode do selektivnog oštećenja interferona alfa/beta izazvanog dsRNK i proizvodnje lambda interferona 1.
Pokazano je da unutarćelijski toll-liki receptori stupaju u interakciju s UNC93B u splenocitima i dendritskim ćelijama iz koštane srži. TLR3 i TLR9 vežu se za UNC93B preko svojih transmembranskih domena. Uvođenje tačkaste mutacije H412R (histidin u arginin) na aminokiselini 412: jedna baza se tzranslocira – adenozin u guanin na bazi 1235), a u UNC93B ukida ovu interakciju.
Kashuba VI, Protopopov AI, Kvasha SM, Gizatullin RZ, Wahlestedt C, Kisselev LL, Klein G, Zabarovsky ER (januar 2002). "hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein". Gene. 283 (1–2): 209–17. doi:10.1016/S0378-1119(01)00856-3. PMID 11867227. Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Sénéchal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Héron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL (oktobar 2006). "Herpes simplex virus encephalitis in human UNC-93B deficiency". Science. 314 (5797): 308–12. doi:10.1126/science.1128346. PMID 16973841. S2CID 12501759. Tabeta K, Hoebe K, Janssen EM, Du X, Georgel P, Crozat K, Mudd S, Mann N, Sovath S, Goode J, Shamel L, Herskovits AA, Portnoy DA, Cooke M, Tarantino LM, Wiltshire T, Steinberg BE, Grinstein S, Beutler B (februar 2006). "The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9". Nat. Immunol. 7 (2): 156–64. doi:10.1038/ni1297. PMID 16415873. S2CID 33401155.
- Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Kashuba VI, Protopopov AI, Kvasha SM, et al. (2002). "hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein". Gene. 283 (1–2): 209–17. doi:10.1016/S0378-1119(01)00856-3. PMID 11867227.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Arnlöv J, Sundström J, Lind L, et al. (2006). "hUNC-93B1, a novel gene mainly expressed in the heart, is related to left ventricular diastolic function, heart failure morbidity and mortality in elderly men". Eur. J. Heart Fail. 7 (6): 958–65. doi:10.1016/j.ejheart.2004.06.009. PMID 16111919. S2CID 22339419.
- Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification". Nature. 440 (7083): 497–500. doi:10.1038/nature04632. PMID 16554811.
- Casrouge A, Zhang SY, Eidenschenk C, et al. (2006). "Herpes simplex virus encephalitis in human UNC-93B deficiency". Science. 314 (5797): 308–12. doi:10.1126/science.1128346. PMID 16973841. S2CID 12501759.
