Optineurin

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Optineurin is a protein that in humans is encoded by the OPTN gene.

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.

Model organisms

Optn knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Heart weight	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of OPTN function. A conditional knockout mouse line, called Optn^{tm1a(EUCOMM)Wtsi} 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.

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

Interactions

Optineurin has been shown to interact with Huntingtin and RAB8A.

Further reading

• Sarfarazi M, Rezaie T (Dec 2003). "Optineurin in primary open angle glaucoma". Ophthalmology Clinics of North America. 16 (4): 529–41. doi:10.1016/S0896-1549(03)00061-0. PMID 14740994.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP (Mar 1998). "Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region". American Journal of Human Genetics. 62 (3): 641–52. doi:10.1086/301767. PMC 1376961. PMID 9497264.
• 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.
• Fong KS, de Couet HG (Jun 1999). "Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system". Genomics. 58 (2): 146–57. doi:10.1006/geno.1999.5817. PMID 10366446.
• Moreland RJ, Dresser ME, Rodgers JS, Roe BA, Conaway JW, Conaway RC, Hanas JS (May 2000). "Identification of a transcription factor IIIA-interacting protein". Nucleic Acids Research. 28 (9): 1986–93. doi:10.1093/nar/28.9.1986. PMC 103300. PMID 10756201.
• Schwamborn K, Weil R, Courtois G, Whiteside ST, Israël A (Jul 2000). "Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway". The Journal of Biological Chemistry. 275 (30): 22780–9. doi:10.1074/jbc.M001500200. PMID 10807909.
• Hattula K, Peränen J (2001). "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.
• Hales CM, Griner R, Hobdy-Henderson KC, Dorn MC, Hardy D, Kumar R, Navarre J, Chan EK, Lapierre LA, Goldenring JR (Oct 2001). "Identification and characterization of a family of Rab11-interacting proteins". The Journal of Biological Chemistry. 276 (42): 39067–75. doi:10.1074/jbc.M104831200. PMID 11495908.
• Vittitow J, Borrás T (Oct 2002). "Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure". Biochemical and Biophysical Research Communications. 298 (1): 67–74. doi:10.1016/S0006-291X(02)02395-1. PMID 12379221.
• Kamphuis W, Schneemann A (2003). "Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation". Ophthalmic Research. 35 (2): 93–6. doi:10.1159/000069133. PMID 12646749.
• Tang S, Toda Y, Kashiwagi K, Mabuchi F, Iijima H, Tsukahara S, Yamagata Z (Aug 2003). "The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene". Human Genetics. 113 (3): 276–9. doi:10.1007/s00439-003-0964-y. PMID 12811537.
• 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 (Aug 2003). "Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma". Archives of Ophthalmology. 121 (8): 1181–3. doi:10.1001/archopht.121.8.1181. PMC 1361284. PMID 12912697.
• Aung T, Ebenezer ND, Brice G, Child AH, Prescott Q, Lehmann OJ, Hitchings RA, Bhattacharya SS (Aug 2003). "Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing". Journal of Medical Genetics. 40 (8): e101. doi:10.1136/jmg.40.8.e101. PMC 1735547. PMID 12920093.
• Leung YF, Fan BJ, Lam DS, Lee WS, Tam PO, Chua JK, Tham CC, Lai JS, Fan DS, Pang CP (Sep 2003). "Different optineurin mutation pattern in primary open-angle glaucoma". Investigative Ophthalmology & Visual Science. 44 (9): 3880–4. doi:10.1167/iovs.02-0693. PMID 12939304.
• 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 (Nov 2003). "Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma". American Journal of Ophthalmology. 136 (5): 904–10. doi:10.1016/S0002-9394(03)00577-4. PMID 14597044.

External links

• OPTN human gene location in the UCSC Genome Browser.
• OPTN human gene details in the UCSC Genome Browser.