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{{Infobox_gene}}
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'''Optineurin''' is a [[protein]] that in humans is encoded by the ''OPTN'' [[gene]].<ref name="pmid11834836">{{cite journal | vauthors = Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M | title = Adult-onset primary open-angle glaucoma caused by mutations in optineurin | journal = Science | volume = 295 | issue = 5557 | pages = 1077–9 | date = Feb 2002 | pmid = 11834836 | pmc =  | doi = 10.1126/science.1066901 }}</ref><ref name="pmid9488477">{{cite journal | vauthors = Li Y, Kang J, Horwitz MS | title = Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains | journal = Molecular and Cellular Biology | volume = 18 | issue = 3 | pages = 1601–10 | date = Mar 1998 | pmid = 9488477 | pmc = 108875 | doi =  10.1128/mcb.18.3.1601}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OPTN optineurin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10133| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Optineurin
| HGNCid = 17142
| Symbol = OPTN
| AltSymbols =; NRP; FIP2; GLC1E; HIP7; HYPL; TFIIIA-INTP
| OMIM = 602432
| ECnumber = 
| Homologene = 11085
| MGIid = 1918898
| GeneAtlas_image1 = PBB_GE_OPTN_202073_at_tn.png
| GeneAtlas_image2 = PBB_GE_OPTN_202074_s_at_tn.png
| Function = {{GNF_GO|id=GO:0008022 |text = protein C-terminus binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}}
| Process = {{GNF_GO|id=GO:0000042 |text = protein targeting to Golgi}} {{GNF_GO|id=GO:0007030 |text = Golgi organization and biogenesis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0008219 |text = cell death}} {{GNF_GO|id=GO:0043001 |text = Golgi to plasma membrane protein transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10133
    | Hs_Ensembl = ENSG00000123240
    | Hs_RefseqProtein = NP_001008212
    | Hs_RefseqmRNA = NM_001008211
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 13181455
    | Hs_GenLoc_end = 13220297
    | Hs_Uniprot = Q96CV9
    | Mm_EntrezGene = 71648
    | Mm_Ensembl = ENSMUSG00000026672
    | Mm_RefseqmRNA = NM_181848
    | Mm_RefseqProtein = NP_862896
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 4937914
    | Mm_GenLoc_end = 4981210
    | Mm_Uniprot = Q8K3K8
  }}
}}
'''Optineurin''', also known as '''OPTN''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: OPTN optineurin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10133| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle [[glaucoma]]. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor [[necrosis]] factor-alpha or Fas-ligand pathways to mediate apoptosis, [[inflammation]] or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle [[glaucoma]]. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor [[necrosis]] factor-alpha or Fas-ligand pathways to mediate apoptosis, [[inflammation]] or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez">{{cite web | title = Entrez Gene: OPTN optineurin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10133| accessdate = }}</ref>
}}


==References==
== Model organisms ==
{{reflist|2}}
 
==Further reading==
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
|+ ''Optn'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
 
|-
| [[Homozygote]] viability || bgcolor="#488ED3"|Normal
|-
| Fertility || bgcolor="#488ED3"|Normal
|-
| Body weight || bgcolor="#488ED3"|Normal
|-
| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
|-
| Grip strength || bgcolor="#488ED3"|Normal
|-
| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| Eye morphology || bgcolor="#488ED3"|Normal
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#488ED3"|Normal
|-
| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Salmonella'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MASV/salmonella-challenge/ |title=''Salmonella'' infection data for Optn |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| ''[[Citrobacter]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Citrobacter'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MASV/citrobacter-challenge/ |title=''Citrobacter'' infection data for Optn |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal| doi = 10.1111/j.1755-3768.2010.4142.x| title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice| year = 2010| author = Gerdin AK| journal = Acta Ophthalmologica| volume = 88| issue = S248 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
[[Model organism]]s have been used in the study of OPTN function. A conditional [[knockout mouse]] line, called ''Optn<sup>tm1a(EUCOMM)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Optn |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432769 |title=Mouse Genome Informatics}}</ref> was generated as part of the [[International Knockout Mouse Consortium]] program – a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists – at the [[Wellcome Trust Sanger Institute]].<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref>
 
Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}</ref> Twenty one tests were carried out on [[mutant]] mice, however no significant abnormalities were observed.<ref name="mgp_reference" />
 
== Interactions ==
 
Optineurin has been shown to [[Protein-protein interaction|interact]] with [[Huntingtin]]<ref name=pmid9700202>{{cite journal | vauthors = Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME | title = Huntingtin interacts with a family of WW domain proteins | journal = Human Molecular Genetics | volume = 7 | issue = 9 | pages = 1463–74 | date = Sep 1998 | pmid = 9700202 | doi = 10.1093/hmg/7.9.1463 }}</ref><ref name=pmid11137014>{{cite journal | vauthors = Hattula K, Peränen J | title = FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis | journal = Current Biology | volume = 10 | issue = 24 | pages = 1603–6 | year = 2000 | pmid = 11137014 | doi = 10.1016/S0960-9822(00)00864-2 }}</ref> and [[RAB8A]].<ref name=pmid11137014/>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Sarfarazi M, Rezaie T | title = Optineurin in primary open angle glaucoma | journal = Ophthalmology Clinics of North America | volume = 16 | issue = 4 | pages = 529–41 | date = Dec 2003 | pmid = 14740994 | doi = 10.1016/S0896-1549(03)00061-0 }}
| citations =
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Analytical Biochemistry | volume = 236 | issue = 1 | pages = 107–13 | date = Apr 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
*{{cite journal | author=Sarfarazi M, Rezaie T |title=Optineurin in primary open angle glaucoma. |journal=Ophthalmology clinics of North America |volume=16 |issue= 4 |pages= 529-41 |year= 2004 |pmid= 14740994 |doi= }}
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing | journal = Genome Research | volume = 7 | issue = 4 | pages = 353–8 | date = Apr 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
*{{cite journal | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |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 = Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP | title = Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region | journal = American Journal of Human Genetics | volume = 62 | issue = 3 | pages = 641–52 | date = Mar 1998 | pmid = 9497264 | pmc = 1376961 | doi = 10.1086/301767 }}
*{{cite journal | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi= }}
* {{cite journal | vauthors = Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME | title = Huntingtin interacts with a family of WW domain proteins | journal = Human Molecular Genetics | volume = 7 | issue = 9 | pages = 1463–74 | date = Sep 1998 | pmid = 9700202 | doi = 10.1093/hmg/7.9.1463 }}
*{{cite journal  | author=Li Y, Kang J, Horwitz MS |title=Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. |journal=Mol. Cell. Biol. |volume=18 |issue= 3 |pages= 1601-10 |year= 1998 |pmid= 9488477 |doi=  }}
* {{cite journal | vauthors = Fong KS, de Couet HG | title = Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system | journal = Genomics | volume = 58 | issue = 2 | pages = 146–57 | date = Jun 1999 | pmid = 10366446 | doi = 10.1006/geno.1999.5817 }}
*{{cite journal | author=Sarfarazi M, Child A, Stoilova D, ''et al.'' |title=Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 641-52 |year= 1998 |pmid= 9497264 |doi= }}
* {{cite journal | vauthors = Moreland RJ, Dresser ME, Rodgers JS, Roe BA, Conaway JW, Conaway RC, Hanas JS | title = Identification of a transcription factor IIIA-interacting protein | journal = Nucleic Acids Research | volume = 28 | issue = 9 | pages = 1986–93 | date = May 2000 | pmid = 10756201 | pmc = 103300 | doi = 10.1093/nar/28.9.1986 }}
*{{cite journal | author=Faber PW, Barnes GT, Srinidhi J, ''et al.'' |title=Huntingtin interacts with a family of WW domain proteins. |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1463-74 |year= 1998 |pmid= 9700202 |doi= }}
* {{cite journal | vauthors = Schwamborn K, Weil R, Courtois G, Whiteside ST, Israël A | title = Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway | journal = The Journal of Biological Chemistry | volume = 275 | issue = 30 | pages = 22780–9 | date = Jul 2000 | pmid = 10807909 | doi = 10.1074/jbc.M001500200 }}
*{{cite journal | author=Fong KS, de Couet HG |title=Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system. |journal=Genomics |volume=58 |issue= 2 |pages= 146-57 |year= 1999 |pmid= 10366446 |doi= 10.1006/geno.1999.5817 }}
* {{cite journal | vauthors = Hattula K, Peränen J | title = FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis | journal = Current Biology | volume = 10 | issue = 24 | pages = 1603–6 | year = 2001 | pmid = 11137014 | doi = 10.1016/S0960-9822(00)00864-2 }}
*{{cite journal | author=Moreland RJ, Dresser ME, Rodgers JS, ''et al.'' |title=Identification of a transcription factor IIIA-interacting protein. |journal=Nucleic Acids Res. |volume=28 |issue= 9 |pages= 1986-93 |year= 2000 |pmid= 10756201 |doi= }}
* {{cite journal | vauthors = Hales CM, Griner R, Hobdy-Henderson KC, Dorn MC, Hardy D, Kumar R, Navarre J, Chan EK, Lapierre LA, Goldenring JR | title = Identification and characterization of a family of Rab11-interacting proteins | journal = The Journal of Biological Chemistry | volume = 276 | issue = 42 | pages = 39067–75 | date = Oct 2001 | pmid = 11495908 | doi = 10.1074/jbc.M104831200 }}
*{{cite journal | author=Schwamborn K, Weil R, Courtois G, ''et al.'' |title=Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway. |journal=J. Biol. Chem. |volume=275 |issue= 30 |pages= 22780-9 |year= 2000 |pmid= 10807909 |doi= 10.1074/jbc.M001500200 }}
* {{cite journal | vauthors = Vittitow J, Borrás T | title = Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure | journal = Biochemical and Biophysical Research Communications | volume = 298 | issue = 1 | pages = 67–74 | date = Oct 2002 | pmid = 12379221 | doi = 10.1016/S0006-291X(02)02395-1 }}
*{{cite journal | author=Hattula K, Peränen J |title=FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis. |journal=Curr. Biol. |volume=10 |issue= 24 |pages= 1603-6 |year= 2001 |pmid= 11137014 |doi= }}
* {{cite journal | vauthors = Kamphuis W, Schneemann A | title = Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation | journal = Ophthalmic Research | volume = 35 | issue = 2 | pages = 93–6 | year = 2003 | pmid = 12646749 | doi = 10.1159/000069133 }}
*{{cite journal | author=Hales CM, Griner R, Hobdy-Henderson KC, ''et al.'' |title=Identification and characterization of a family of Rab11-interacting proteins. |journal=J. Biol. Chem. |volume=276 |issue= 42 |pages= 39067-75 |year= 2001 |pmid= 11495908 |doi= 10.1074/jbc.M104831200 }}
* {{cite journal | vauthors = Tang S, Toda Y, Kashiwagi K, Mabuchi F, Iijima H, Tsukahara S, Yamagata Z | title = The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene | journal = Human Genetics | volume = 113 | issue = 3 | pages = 276–9 | date = Aug 2003 | pmid = 12811537 | doi = 10.1007/s00439-003-0964-y }}
*{{cite journal | author=Rezaie T, Child A, Hitchings R, ''et al.'' |title=Adult-onset primary open-angle glaucoma caused by mutations in optineurin. |journal=Science |volume=295 |issue= 5557 |pages= 1077-9 |year= 2002 |pmid= 11834836 |doi= 10.1126/science.1066901 }}
* {{cite journal | vauthors = Wiggs JL, Auguste J, Allingham RR, Flor JD, Pericak-Vance MA, Rogers K, LaRocque KR, Graham FL, Broomer B, Del Bono E, Haines JL, Hauser M | title = Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma | journal = Archives of Ophthalmology | volume = 121 | issue = 8 | pages = 1181–3 | date = Aug 2003 | pmid = 12912697 | pmc = 1361284 | doi = 10.1001/archopht.121.8.1181 }}
*{{cite journal  | author=Vittitow J, Borrás T |title=Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. |journal=Biochem. Biophys. Res. Commun. |volume=298 |issue= 1 |pages= 67-74 |year= 2002 |pmid= 12379221 |doi= }}
* {{cite journal | vauthors = Aung T, Ebenezer ND, Brice G, Child AH, Prescott Q, Lehmann OJ, Hitchings RA, Bhattacharya SS | title = Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing | journal = Journal of Medical Genetics | volume = 40 | issue = 8 | pages = e101 | date = Aug 2003 | pmid = 12920093 | pmc = 1735547 | doi = 10.1136/jmg.40.8.e101 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
* {{cite journal | vauthors = Leung YF, Fan BJ, Lam DS, Lee WS, Tam PO, Chua JK, Tham CC, Lai JS, Fan DS, Pang CP | title = Different optineurin mutation pattern in primary open-angle glaucoma | journal = Investigative Ophthalmology & Visual Science | volume = 44 | issue = 9 | pages = 3880–4 | date = Sep 2003 | pmid = 12939304 | doi = 10.1167/iovs.02-0693 }}
*{{cite journal | author=Kamphuis W, Schneemann A |title=Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation. |journal=Ophthalmic Res. |volume=35 |issue= 2 |pages= 93-6 |year= 2003 |pmid= 12646749 |doi= 10.1159/000069133 }}
* {{cite journal | vauthors = Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM | title = Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma | journal = American Journal of Ophthalmology | volume = 136 | issue = 5 | pages = 904–10 | date = Nov 2003 | pmid = 14597044 | doi = 10.1016/S0002-9394(03)00577-4 }}
*{{cite journal | author=Tang S, Toda Y, Kashiwagi K, ''et al.'' |title=The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene. |journal=Hum. Genet. |volume=113 |issue= 3 |pages= 276-9 |year= 2003 |pmid= 12811537 |doi= 10.1007/s00439-003-0964-y }}
*{{cite journal | author=Wiggs JL, Auguste J, Allingham RR, ''et al.'' |title=Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. |journal=Arch. Ophthalmol. |volume=121 |issue= 8 |pages= 1181-3 |year= 2003 |pmid= 12912697 |doi= 10.1001/archopht.121.8.1181 }}
*{{cite journal | author=Aung T, Ebenezer ND, Brice G, ''et al.'' |title=Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing. |journal=J. Med. Genet. |volume=40 |issue= 8 |pages= e101 |year= 2003 |pmid= 12920093 |doi= }}
*{{cite journal | author=Leung YF, Fan BJ, Lam DS, ''et al.'' |title=Different optineurin mutation pattern in primary open-angle glaucoma. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 9 |pages= 3880-4 |year= 2003 |pmid= 12939304 |doi= }}
*{{cite journal | author=Alward WL, Kwon YH, Kawase K, ''et al.'' |title=Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. |journal=Am. J. Ophthalmol. |volume=136 |issue= 5 |pages= 904-10 |year= 2003 |pmid= 14597044 |doi= }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* {{UCSC genome browser|OPTN}}
* {{UCSC gene details|OPTN}}
 
 
 
[[Category:Genes mutated in mice]]

Latest revision as of 14:22, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Optineurin is a protein that in humans is encoded by the OPTN gene.[1][2][3]

Function

This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein.[3]

Model organisms

Model organisms have been used in the study of OPTN function. A conditional knockout mouse line, called Optntm1a(EUCOMM)Wtsi[8][9] was generated as part of the International Knockout Mouse Consortium program – a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists – at the Wellcome Trust Sanger Institute.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty one tests were carried out on mutant mice, however no significant abnormalities were observed.[6]

Interactions

Optineurin has been shown to interact with Huntingtin[14][15] and RAB8A.[15]

References

  1. ↑ Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M (Feb 2002). "Adult-onset primary open-angle glaucoma caused by mutations in optineurin". Science. 295 (5557): 1077–9. doi:10.1126/science.1066901. PMID 11834836.
  2. ↑ Li Y, Kang J, Horwitz MS (Mar 1998). "Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains". Molecular and Cellular Biology. 18 (3): 1601–10. doi:10.1128/mcb.18.3.1601. PMC 108875. PMID 9488477.
  3. ↑ 3.0 3.1 "Entrez Gene: OPTN optineurin".
  4. ↑ "Salmonella infection data for Optn". Wellcome Trust Sanger Institute.
  5. ↑ "Citrobacter infection data for Optn". Wellcome Trust Sanger Institute.
  6. ↑ 6.0 6.1 6.2 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
  7. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ↑ "International Knockout Mouse Consortium".
  9. ↑ "Mouse Genome Informatics".
  10. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  12. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  13. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  14. ↑ Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (Sep 1998). "Huntingtin interacts with a family of WW domain proteins". Human Molecular Genetics. 7 (9): 1463–74. doi:10.1093/hmg/7.9.1463. PMID 9700202.
  15. ↑ 15.0 15.1 Hattula K, Peränen J (2000). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology. 10 (24): 1603–6. doi:10.1016/S0960-9822(00)00864-2. PMID 11137014.

Further reading

External links

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