NP_001008214.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
59,559 Da
NCBI Official Full Name
optineurin
NCBI Official Synonym Full Names
optineurin
NCBI Official Synonym Symbols
NRP; FIP2; HIP7; HYPL; ALS12; GLC1E; TFIIIA-INTP [Similar Products]
NCBI Protein Information
optineurin; E3-14.7K-interacting protein; FIP-2; HIP-7; Huntingtin interacting protein L; huntingtin yeast partner L; huntingtin-interacting protein 7; huntingtin-interacting protein L; nemo-related protein; optic neuropathy-inducing protein; transcription factor IIIA-interacting protein; transcrption factor IIIA-interacting protein; tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains
UniProt Protein Name
Optineurin
UniProt Synonym Protein Names
E3-14.7K-interacting protein; FIP-2; Huntingtin yeast partner L; Huntingtin-interacting protein 7; HIP-7; Huntingtin-interacting protein L; NEMO-related protein; Optic neuropathy-inducing protein; Transcription factor IIIA-interacting protein; TFIIIA-IntP
UniProt Synonym Gene Names
UniProt Entry Name
OPTN_HUMAN
NCBI Summary for OPTN
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 Comments for OPTN
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: Golgi membrane; nucleoplasm; Golgi apparatus; recycling endosome; perinuclear region of cytoplasm; cytoplasmic membrane-bound vesicle; cytoplasm; autophagic vacuole; trans-Golgi network; cytosol; nucleus
Molecular Function: protein C-terminus binding; protein binding; polyubiquitin binding; Rab GTPase binding
Biological Process: cell death; macroautophagy; Golgi to plasma membrane protein transport; negative regulation of receptor recycling; negative regulation of I-kappaB kinase/NF-kappaB cascade; protein targeting to Golgi; mitotic cell cycle; regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; defense response to Gram-negative bacterium; G2/M transition of mitotic cell cycle; Golgi organization and biogenesis
Disease: Glaucoma, Normal Tension, Susceptibility To; Glaucoma, Primary Open Angle; Amyotrophic Lateral Sclerosis 12
Research Articles on OPTN
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with anti-OPTN antibody
Diseases associated with anti-OPTN antibody
Organs/Tissues associated with anti-OPTN antibody
|