View source for UNC93B1

{{Infobox_gene}}
'''Unc-93 homolog B1 (''[[Caenorhabditis elegans|C. elegans]]'')''', also known as '''UNC93B1''', is a [[protein]] which in humans is encoded by the ''UNC93B1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: UNC93B1 unc-93 homolog B1 (C. elegans)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=81622| accessdate = }}</ref><ref name="pmid11867227">{{cite journal | vauthors = Kashuba VI, Protopopov AI, Kvasha SM, Gizatullin RZ, Wahlestedt C, Kisselev LL, Klein G, Zabarovsky ER | title = hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein | journal = Gene | volume = 283 | issue = 1–2 | pages = 209–17 |date=January 2002 | pmid = 11867227 | doi = 10.1016/S0378-1119(01)00856-3  | url =  }}</ref>

== Function ==

This gene encodes a protein with similarity to the ''[[Caenorhabditis elegans]]'' [[unc93]] protein. The Unc93 protein is involved in the regulation or coordination of muscle contraction in the worm.<ref name="entrez"/>

==Molecular biology==

The gene is located on long arm of chromosome 11 (11q13) on the minus (Crick) strand<ref name="pmid11867227"/> and was first identified in 2002.<ref name="pmid11867227"/> This protein is an intrinsic membrane protein that spans the membrane twelve times. It is found in the [[endoplasmic reticulum]] and is highly conserved.

==Clinical importance==

Unc93B1 protein appears to be involved in the innate immune response. Defects in the protein predispose to hypersensitity to infections with [[herpes simplex virus]] and mouse [[cytomegalovirus]].<ref name="pmid16973841">{{cite journal | vauthors = 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 | title = Herpes simplex virus encephalitis in human UNC-93B deficiency | journal = Science | volume = 314 | issue = 5797 | pages = 308–12 |date=October 2006 | pmid = 16973841 | doi = 10.1126/science.1128346 | url =  }}</ref> The mechanism is unclear but Unc93B1 is known to interact with the [[toll-like receptors]] [[TLR 3|TLR3]], [[TLR 7|TLR7]] and [[TLR9]] and it appears to be involved in the trafficking of these receptors within the cell.<ref name="pmid16415873">{{cite journal | vauthors = 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 | title = The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9 | journal = Nat. Immunol. | volume = 7 | issue = 2 | pages = 156–64 |date=February 2006 | pmid = 16415873 | doi = 10.1038/ni1297 | url =  }}</ref><ref name="pmid18305481">{{cite journal | vauthors = Kim YM, Brinkmann MM, Paquet ME, Ploegh HL | title = UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes | journal = Nature | volume = 452 | issue = 7184 | pages = 234–8 |date=March 2008 | pmid = 18305481 | doi = 10.1038/nature06726 | url =  }}</ref> Mutations in this gene lead to selective impairment of dsRNA-induced [[interferon]] alpha/beta and interferon 1 lambda production.

The intracellular toll-like receptors have been shown to interact with UNC93B in [[splenocyte]]s and bone marrow-derived [[dendritic cells]]. TLR3 and TLR9 bind to UNC93B via their transmembrane domains. Introduction of the point mutation H412R ([[histidine]] to [[arginine]] at amino acid 412: a single base [[Transition (genetics)|transition]] - [[adenosine]] to [[guanine]] at base 1235) in UNC93B abolishes this interaction.

==References==
{{reflist}}

==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading 
| citations = 
*{{cite journal   |vauthors=Andersson B, Wentland MA, Ricafrente JY, etal |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791  }}
*{{cite journal   |vauthors=Yu W, Andersson B, Worley KC, etal |title=Large-Scale Concatenation cDNA Sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=  10.1101/gr.7.4.353| pmc=139146  }}
*{{cite journal  |title=Toward a complete human genome sequence |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=  10.1101/gr.8.11.1097}}
*{{cite journal   |vauthors=Kashuba VI, Protopopov AI, Kvasha SM, etal |title=hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein |journal=Gene |volume=283 |issue= 1–2 |pages= 209–17 |year= 2002 |pmid= 11867227 |doi=10.1016/S0378-1119(01)00856-3  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal   |vauthors=Arnlöv J, Sundström J, Lind L, etal |title=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 |journal=Eur. J. Heart Fail. |volume=7 |issue= 6 |pages= 958–65 |year= 2006 |pmid= 16111919 |doi= 10.1016/j.ejheart.2004.06.009 }}
*{{cite journal   |vauthors=Taylor TD, Noguchi H, Totoki Y, etal |title=Human chromosome 11 DNA sequence and analysis including novel gene identification |journal=Nature |volume=440 |issue= 7083 |pages= 497–500 |year= 2006 |pmid= 16554811 |doi= 10.1038/nature04632 }}
*{{cite journal   |vauthors=Casrouge A, Zhang SY, Eidenschenk C, etal |title=Herpes simplex virus encephalitis in human UNC-93B deficiency |journal=Science |volume=314 |issue= 5797 |pages= 308–12 |year= 2006 |pmid= 16973841 |doi= 10.1126/science.1128346 }}
}}
{{refend}}

<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes 
| require_manual_inspection = no 
| update_protein_box = yes
| update_summary = no
| update_citations = yes
}}


{{protein-stub}}