Human Gene OPTN (ENST00000378747.8) from GENCODE V44
Description: Homo sapiens optineurin (OPTN), transcript variant 3, mRNA. (from RefSeq NM_001008212) RefSeq Summary (NM_001008212): 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]. Gencode Transcript: ENST00000378747.8 Gencode Gene: ENSG00000123240.17 Transcript (Including UTRs) Position: hg38 chr10:13,100,163-13,138,308 Size: 38,146 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr10:13,109,123-13,136,866 Size: 27,744 Coding Exon Count: 13
ID:OPTN_HUMAN DESCRIPTION: RecName: Full=Optineurin; AltName: Full=E3-14.7K-interacting protein; AltName: Full=FIP-2; AltName: Full=Huntingtin yeast partner L; AltName: Full=Huntingtin-interacting protein 7; Short=HIP-7; AltName: Full=Huntingtin-interacting protein L; AltName: Full=NEMO-related protein; AltName: Full=Optic neuropathy-inducing protein; AltName: Full=Transcription factor IIIA-interacting protein; Short=TFIIIA-IntP; 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. SUBUNIT: 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. INTERACTION: Q13023:AKAP6; NbExp=2; IntAct=EBI-748974, EBI-1056102; Q03001:DST; NbExp=2; IntAct=EBI-748974, EBI-310758; O75923:DYSF; NbExp=3; IntAct=EBI-748974, EBI-2799016; Q00013:MPP1; NbExp=2; IntAct=EBI-748974, EBI-711788; P20929:NEB; NbExp=3; IntAct=EBI-748974, EBI-1049657; Q14BN4:SLMAP; NbExp=2; IntAct=EBI-748974, EBI-1043216; Q9UNH7:SNX6; NbExp=2; IntAct=EBI-748974, EBI-949294; Q9UHD2:TBK1; NbExp=3; IntAct=EBI-748974, EBI-356402; Q8WZ42:TTN; NbExp=2; IntAct=EBI-748974, EBI-681210; P04275:VWF; NbExp=2; IntAct=EBI-748974, EBI-981819; 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. TISSUE SPECIFICITY: Present in acqueous 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. INDUCTION: Upon TNF and interferon treatments. Up-regulated in direct response to viral infection. DOMAIN: Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1. PTM: Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is induced by phorbol esters and decreases its half-time. DISEASE: Defects in OPTN are the cause of primary open angle glaucoma type 1E (GLC1E) [MIM:137760]. 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. DISEASE: Defects in OPTN are a cause of susceptibility to normal pressure glaucoma (NPG) [MIM:606657]. DISEASE: Defects in OPTN are the cause of amyotrophic lateral sclerosis type 12 (ALS12) [MIM:613435]. 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. CAUTION: According to some authors (PubMed:12379221) its expression is regulated by intraocular pressure, suggesting a protective role in case of high pressure, while according to other authors (PubMed:12646749), it is not up-regulated in response to pressure elevation. SEQUENCE CAUTION: Sequence=CAI16552.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPTN";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96CV9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000086 G2/M transition of mitotic cell cycle GO:0001920 negative regulation of receptor recycling GO:0002376 immune system process GO:0006914 autophagy GO:0007030 Golgi organization GO:0007165 signal transduction GO:0008219 cell death GO:0010508 positive regulation of autophagy GO:0016192 vesicle-mediated transport GO:0034067 protein localization to Golgi apparatus GO:0034613 cellular protein localization GO:0034620 cellular response to unfolded protein GO:0043001 Golgi to plasma membrane protein transport GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0045087 innate immune response GO:0050829 defense response to Gram-negative bacterium GO:0061734 parkin-mediated mitophagy in response to mitochondrial depolarization GO:0090161 Golgi ribbon formation GO:1904417 positive regulation of xenophagy
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