Recombinant Human Optineurin (OPTN)

1. rs1561570 may contribute to Paget's disease of bone since its T allele results in the loss of a methylation site in patients' DNA, leading to higher levels of OPTN gene expression and a corresponding increase in protein levels in patients' osteoclasts. PMID: 29782529
2. Results suggest that Optn potentiates LC3-II production and maturation of the phagophore into the autophagosome, by facilitating the recruitment of the Atg12-5-16L1 complex to Wipi2-positive phagophores. PMID: 29133525
3. Immunohistochemical analyses of motor neurons from OPTN-associated amyotrophic lateral sclerosis patients reveal that linear ubiquitin and activated NF-kappaB are partially co-localized with cytoplasmic inclusions, and that activation of caspases is elevated. PMID: 27552911
4. This study describes the crystal structures of optineurin/TBK1 complex and the related NAP1/TBK1 complex, uncovering the detailed molecular mechanism governing the optineurin and TBK1 interaction, and revealing a general binding mode between TBK1 and its associated adaptor proteins. PMID: 27620379
5. Data suggest that OPTN mRNA and protein expression are significantly decreased in fetal membranes and myometrium during spontaneous term labor; there appears to be no effect of preterm labor on OPTN expression in fetal membranes. In cultured myometrial cells, RNA interference of OPTN up-regulates expression of inflammation mediators in response to IL1B (inteleukin-1B). PMID: 27133964
6. When yeast genetic interaction partners held in common between human OPTN and ANG were validated in mammalian cells and zebrafish, MAP2K5 kinase emerged as a potential drug target for amyotrophic lateral sclerosis therapy PMID: 28596290
7. A new variant associated with Paget's Disease of Bone in OPTN, reinforcing the relevance of this gene for the development of this bone disease. PMID: 28993189
8. OPTN colocalizes with LC3 (autophagic vesicle marker) and alpha-synuclein positive puncta in rotenone-treated animals, potentially indicating an important role in autophagy and PD pathogenesis PMID: 27473339
9. Given the critical roles of TBK1, important regulatory mechanisms are required to regulate its activity. Among these, Optineurin (Optn) was shown to negatively regulate the interferon response, in addition to its important role in membrane trafficking, protein secretion, autophagy and cell division. PMID: 26976762
10. E50K, M98K, Q398X and E478G mutations in OPTN affect neuronal viability under normal or oxidative stress conditions. PMID: 26956627
11. We report a five-generation pedigree with a complex pattern of primary open angle glaucoma(POAG) inheritance; familial clustering of POAG in this pedigree is consistent with dominant inheritance of a glaucoma-causing gene, mutations were not detected in genes previously associated with autosomal dominant glaucoma, suggesting the involvement of a novel disease-causing gene in this pedigree. PMID: 27355837
12. These results suggest that the IRAK1-binding protein OPTN negatively regulates IL-1beta/LPS-induced NF-kappaB activation by preventing polyubiquitination of TRAF6. PMID: 28882891
13. This study therefore provides novel information regarding the role of Optn during T-cell activation, suggesting the possible importance of Optn during inflammation and/or autoimmune diseases. PMID: 28192730
14. Frontotemporal dementia -linked mutations in gene OPTN encoding autophagy adaptor proteins , indicate that impaired autophagy might cause Frontotemporal dementia. PMID: 27166223
15. The present study provides insight into the genetic or haplotype variants of MYOC and OPTN genes contributing to primary glaucoma. Haplotype variants identified in the present study may be regarded as potential contributing factors of primary glaucoma in Korea. PMID: 27485216
16. the E50K OPTN mutation markedly reduced the levels of miR-9, which led to alterations in REST and reduced expression levels of BDNF in RGC-5 cells. PMID: 27748809
17. ALS-linked mutations in OPTN and TBK1 can interfere with mitophagy, suggesting that inefficient turnover of damaged mitochondria may represent a key pathophysiological mechanism contributing to neurodegenerative disease. PMID: 27247382
18. We conclude that OPTN mutations are associated with Amyotrophic lateral sclerosis PMID: 26303227
19. In combination with phosphorylation of S177 and S513, this posttranslational modification promotes recruitment and retention of OPTN/TBK1 on ubiquitinated, damaged mitochondria PMID: 27035970
20. Familial linkage studies for primary angle-closure glaucoma have been performed and identified OPTN causative primary angle-closure glaucoma disease PMID: 26497787
21. Nine OPTN variants were identified in Chinese sporadic ALS patients, including 5 known SNPs and four novel missense mutations: c.407C > T (p.A136V), c.1184A > G (p.K395R), c.1352T > C (p.I451T), and c.1546G > C (p.E516Q) (all heterozygous). PMID: 26503823
22. OPTN 691_692insAG is a founder mutation in Moroccan and Ashkenazi Jews with ALS. PMID: 26740678
23. A polymorphism of optineurin, M98K, associated with glaucoma, causes enhanced autophagy leading to transferrin receptor degradation and apoptotic death of retinal cells. PMID: 26302410
24. Optineurin can also mediate the removal of protein aggregates through an ubiquitin-independent mechanism. This protein in addition can induce autophagy upon overexpression or mutation. PMID: 26142952
25. Optineurin binding to myosin VI was also decreased in tissue lysates from sporadic amyotrophic lateral sclerosis spinal cords. PMID: 25859013
26. Optineurin mediates its functions by interacting with various proteins and disease-causing mutations alter these interactions leading to functional defects in membrane vesicle trafficking, autophagy, signaling. PMID: 25855473
27. Data suggest OPTN is involved in upregulation of innate immunity in mitosis; mechanism involves phosphorylation/mitochondrial translocation of TBK1 (NF-kB-activating kinase) and phosphorylation/nuclear translocation of CYLD (cylindromatosis protein). PMID: 25923723
28. Loss-of-function variants in OPTN and TBK1 are associated with clinical and pathological frontotemporal dementia without motor neuron disease; TBK1 mutations are common cause of frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions PMID: 25943890
29. that ubiquitin (Ub)-binding domain mutants compromise the maturation of autophagosomes, which in turn interfered with optineurin-mediated autophagy and clearance of inclusion bodies PMID: 25484089
30. optineurin is recruited to ubiquitinated mitochondria downstream of PARK2, and induces autophagosome assembly around mitochondria PMID: 25801386
31. ALS-linked mutations in both OPTN and UBQLN2 interfere with the constitution of specific endosomal vesicles, suggesting that the vesicles are involved in protein homeostasis and that these proteins function in common pathological processes. PMID: 25398946
32. two receptors previously linked to xenophagy, NDP52 and optineurin, are the primary receptors for PINK1- and parkin-mediated mitophagy PMID: 26266977
33. optineurin appears to play an important role in the maintenance of the podocyte Golgi complex. PMID: 25096716
34. Loss of optineurin in vivo results in elevated cell death and alters axonal trafficking dynamics PMID: 25329564
35. optineurin is an autophagy receptor in parkin-mediated mitophagy; defects in a single pathway can lead to neurodegenerative diseases with distinct pathologies PMID: 25294927
36. According to molecular genetic studies, OPTN causative gene involved in the development of Primary open-angle glaucoma. PMID: 25711070
37. under-expressed in subgroups of CD patients. The most common of these was optineurin (OPTN) which was under-expressed in approximately 10% of the CD patients. PMID: 24943399
38. that the loss-of-function, but not the proteinopathy itself, of OPTN leads to multisystem neurodegeneration. PMID: 23889540
39. HACE1-OPTN axis synergistically suppresses growth and tumorigenicity of lung cancer cells. PMID: 25026213
40. Three mutations of OPTN were identified in Japanese Amyotrophic lateral sclerosis patients PMID: 24085347
41. the crystal structure of Rab25 in complex with the C-terminal region of FIP2, which consists of a central dimeric FIP2 coiled-coil that mediates a heterotetrameric Rab25-(FIP2)2-Rab25 complex. PMID: 24056041
42. NMR and crystal structures of the autophagy modifier LC3B in complex with the LC3 interaction region of optineurin. PMID: 23805866
43. OPTN in cooperation with TDP-43 might be involved in the pathophysiological mechanisms of skeletal muscular degeneration in myopathy PMID: 22860700
44. Identification of a functional IRF-1-binding site in the first intron of human optineurin gene that mediates interferon-gamma-induced activation of the promoter, is reported. PMID: 23811275
45. Knockdown of Rab12 increased transferrin receptor level and reduced M98K-induced cell death. PMID: 23357852
46. Detection of a novel truncating OPTN mutation associated with an aggressive form of amyotrophic lateral sclerosis (ALS) and confirmation that OPTN mutations are a rare cause of ALS. PMID: 23062601
47. Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene. PMID: 23282279
48. Optineurin acts as an adaptor to bring together Rab8 and its GTPase-activating protein TBC1D17. PMID: 22854040
49. The results of this study concluded that OPTN mutations associated with ALS are rare in British ALS patients. PMID: 22892313
50. This study suggests that mutations in OPTN are not the main cause of ALS in the Japanese population. PMID: 22708870

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HGNC: 17142

OMIM: 137760

KEGG: hsa:10133

STRING: 9606.ENSP00000263036

UniGene: Hs.332706