OPTN cdna clone
OPTN cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
optineurin: 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. Defects in OPTN are the cause of primary open angle glaucoma type 1E (GLC1E). Primary open angle glaucoma (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. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Defects in OPTN are a cause of susceptibility to normal pressure glaucoma (NPG). Defects in OPTN are the cause of amyotrophic lateral sclerosis type 12 (ALS12). It is 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. Death usually occurs within 2 to 5 years. 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. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Inhibitor
Chromosomal Location of Human Ortholog: 10p13
Cellular Component: cytoplasm; cytoplasmic membrane-bound vesicle; cytosol; Golgi apparatus; Golgi membrane; nucleoplasm; nucleus; trans-Golgi network
Molecular Function: identical protein binding; polyubiquitin binding; protein binding; protein binding, bridging; protein C-terminus binding; Rab GTPase binding
Biological Process: cell death; defense response to Gram-negative bacterium; G2/M transition of mitotic cell cycle; Golgi organization and biogenesis; Golgi to plasma membrane protein transport; macroautophagy; negative regulation of receptor recycling; protein targeting to Golgi; regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction
Disease: Amyotrophic Lateral Sclerosis 12; Glaucoma, Normal Tension, Susceptibility To; Glaucoma, Primary Open Angle
Research Articles on OPTN
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Product Notes
The OPTN optn (Catalog #AAA1276791) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgtcccatc aacctctcag ctgcctcact gaaaaggagg acagccccag tgaaagcaca ggaaatggac ccccccacct ggcccaccca aacctggaca cgtttacccc ggaggagctg ctgcagcaga tgaaagagct cctgaccgag aaccaccagc tgaaagaagc catgaagcta aataatcaag ccatgaaagg gagatttgag gagctttcgg cctggacaga gaaacagaag gaagaacgcc agttttttga gatacagagc aaagaagcaa aagagcgtct aatggccttg agtcatgaga atgagaaatt gaaggaagag cttggaaaac taaaagggaa atcagaaagg tcatctgagg accccactga tgactccagg cttcccaggg ccgaagcgga gcaggaaaag gaccagctca ggacccaggt ggtgaggcta caagcagaga aggcagacct gttgggcatc gtgtctgaac tgcagctcaa gctgaactcc agcggctcct cagaagattc ctttgttgaa attaggatgg ctgaaggaga agcagaaggg tcagtaaaag aaatcaagca tagtcctggg cccacgagaa cagtctccac tggcacggca ttgtctaaat ataggagcag atctgcagat ggggccaaga attacttcga acatgaggag ttaactgtga gccagctcct gctgtgccta agggaaggga atcagaaggt ggagagactt gaagttgcac tcaaggaggc caaagaaaga gtttcagatt ttgaaaagaa aacaagtaat cgttctgaga ttgaaaccca gacagagggg agcacagaga aagagaatga tgaagagaaa ggcccggaga ctgttggaag cgaagtggaa gcactgaacc tccaggtgac atctctgttt aaggagcttc aagaggctca tacaaaactc agcgaagctg agctaatgaa gaagagactt caagaaaagt gtcaggccct tgaaaggaaa aattctgcaa ttccatcaga gttgaatgaa aagcaagagc ttgtttatac taacaaaaag ttagagctac aagtggaaag catgctatca gaaatcaaaa tggaacaggc taaaacagag gatgaaaagt ccaaattaac tgtgctacag atgacacaca acaagcttct tcaagaacat aataatgcat tgaaaacaat tgaggaacta acaagaaaag agtcagaaaa agtggacagg gcagtgctga aggaactgag tgaaaaactg gaactggcag agaaggctct ggcttccaaa cagctgcaaa tggatgaaat gaagcaaacc attgccaagc aggaagagga cctggaaacc atgaccatcc tcagggctca gatggaagtt tactgttctg attttcatgc tgaaagagca gcgagagaga aaattcatga ggaaaaggag caactggcat tgcagctggc agttctgctg aaagagaatg atgctttcga agacggaggc aggcagtcct tgatggagat gcagagtcgt catggggcga gaacaagtga ctctgaccag caggcttacc ttgttcaaag aggagctgag gacagggact ggcggcaaca gcggaatatt ccgattcatt cctgccccaa gtgtggagag gttctgcctg acatagacac gttacagatt cacgtgatgg attgcatcat ttaa. It is sometimes possible for the material contained within the vial of "OPTN, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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