Optineurin (OPTN)

NRP; FIP2; GLC1E; HIP7; HYPL; TFIIIA-INTP; Glaucoma 1,Open Angle,E(Adult-Onset); Huntingtin-interacting protein 7; Optic neuropathy-inducing protein; E3-14.7K-interacting protein

SPN	U151
HGNC	17142
MGI	1918898
PubMed	20428114
RGD	628886
UniProt	Q96CV9
Wiki	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.

Reference

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Mol. Cell. Biol. 18:1601-1610(1998) [PubMed] [Europe PMC] [Abstract]

"Adult-onset primary open-angle glaucoma caused by mutations in optineurin."
Science 295:1077-1079(2002) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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"FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis."
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"Identification of a transcription factor IIIA-interacting protein."
Nucleic Acids Res. 28:1986-1993(2000) [PubMed] [Europe PMC] [Abstract]

"Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure."
Biochem. Biophys. Res. Commun. 298:67-74(2002) [PubMed] [Europe PMC] [Abstract]

"Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation."
Ophthalmic Res. 35:93-96(2003) [PubMed] [Europe PMC] [Abstract]

"Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis."
J. Cell Biol. 169:285-295(2005) [PubMed] [Europe PMC] [Abstract]

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Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]

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Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant."
BMC Cell Biol. 11:4-4(2010) [PubMed] [Europe PMC] [Abstract]

"Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection."
PLoS Pathog. 6:E1000778-E1000778(2010) [PubMed] [Europe PMC] [Abstract]

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Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17."
J. Cell Sci. 125:5026-5039(2012) [PubMed] [Europe PMC] [Abstract]

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J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Structural basis for phosphorylation-triggered autophagic clearance of Salmonella."
Biochem. J. 454:459-466(2013) [PubMed] [Europe PMC] [Abstract]

"The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma."
J. Med. Genet. 40:842-844(2003) [PubMed] [Europe PMC] [Abstract]

"Different optineurin mutation pattern in primary open-angle glaucoma."
Invest. Ophthalmol. Vis. Sci. 44:3880-3884(2003) [PubMed] [Europe PMC] [Abstract]

"Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma."
Am. J. Ophthalmol. 136:904-910(2003) [PubMed] [Europe PMC] [Abstract]

"M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells."
Autophagy 9:510-527(2013) [PubMed] [Europe PMC] [Abstract]

"E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy."
PLoS ONE 9:E95758-E95758(2014) [PubMed] [Europe PMC] [Abstract]

"Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma."
Hum. Mol. Genet. 22:3559-3567(2013) [PubMed] [Europe PMC] [Abstract]

"Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the blue mountains eye study."
Clin. Exp. Ophthalmol. 32:518-522(2004) [PubMed] [Europe PMC] [Abstract]

"Defining the pathogenicity of optineurin in juvenile open-angle glaucoma."
Invest. Ophthalmol. Vis. Sci. 45:3122-3130(2004) [PubMed] [Europe PMC] [Abstract]

"Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma."
Invest. Ophthalmol. Vis. Sci. 45:4359-4367(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population."
J. Glaucoma 13:299-303(2004) [PubMed] [Europe PMC] [Abstract]

"Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients."
Ophthalmic Genet. 25:91-99(2004) [PubMed] [Europe PMC] [Abstract]

"A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants."
Invest. Ophthalmol. Vis. Sci. 48:1607-1614(2007) [PubMed] [Europe PMC] [Abstract]

"Mutations of optineurin in amyotrophic lateral sclerosis."
Nature 465:223-226(2010) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth."
Science 333:228-233(2011) [PubMed] [Europe PMC] [Abstract]