OPTN Antibody – Rabbit Polyclonal

Function: Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Negatively regulates the induction of IFNB in response to RNA virus infection. Plays a neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death. Ref.2 Ref.14 Ref.17

Subunit structure: Interacts with E3 14.7 kDa protein of group C human adenovirus. Interacts with HD. Interacts with Rab8 (RAB8A and/or RAB8B). Interacts with transcription factor IIIA (GTF3A). Interacts with TRAF3, TBK1 and MYO6. Binds to ubiquitin. Ref.1 Ref.8 Ref.9 Ref.11 Ref.14 Ref.17

Subcellular location: Cytoplasm › perinuclear region. Golgi apparatus. Golgi apparatus › trans-Golgi network. Note: Found in the perinuclear region and associates with the Golgi apparatus. Colocalizes with MYO6 and RAB8 at the Golgi complex and in vesicular structures close to the plasma membrane. Ref.1 Ref.2 Ref.10 Ref.14 Ref.17 Ref.28

Tissue specificity: Present in aqueous humor of the eye (at protein level). Highly expressed in trabecular meshwork. Expressed nonpigmented ciliary epithelium, retina, brain, adrenal cortex, fetus, lymphocyte, fibroblast, skeletal muscle, heart, liver, brain and placenta. Ref.1 Ref.2

Induction: Upon TNF and interferon treatments. Up-regulated in direct response to viral infection. Ref.1 Ref.10 Ref.12 Ref.13 Ref.17

Domain: Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1.

Post-translational modification: Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is induced by phorbol esters and decreases its half-time. Ref.10 Ref.29

Involvement in disease: Glaucoma 1, open angle, E (GLC1E) [MIM:137760]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.21 Ref.22 Ref.24 Ref.25 Ref.26Glaucoma, normal pressure (NPG) [MIM:606657]: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.27Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.28

Caution: According to some authors (Ref.12) its expression is regulated by intraocular pressure, suggesting a protective role in case of high pressure, while according to other authors (Ref.13), it is not up-regulated in response to pressure elevation.

Sequence caution: The sequence CAI16552.1 differs from that shown. Reason: Erroneous gene model prediction.