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Tbio 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). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitnment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52. May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death.

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]

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Property Summary

NCBI Gene PubMed Count 155
PubMed Score 1511.79
PubTator Score 401.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Paget's disease of bone 28 3.883 1.9
Disease Target Count Z-score Confidence
Glaucoma 135 7.265 3.6
Neurodegenerative disease 383 0.0 4.0
Disease Target Count
Glaucoma, normal pressure 1

Expression

  Differential Expression (20)

Disease log2 FC p
malignant mesothelioma -2.600 1.9e-07
astrocytic glioma -1.200 1.5e-02
ependymoma -2.100 6.6e-03
oligodendroglioma -1.700 3.1e-02
psoriasis -1.100 8.0e-06
glioblastoma -2.100 6.9e-03
osteosarcoma -2.032 9.0e-04
medulloblastoma -2.600 1.7e-06
atypical teratoid / rhabdoid tumor -1.400 6.8e-06
medulloblastoma, large-cell -3.500 1.6e-06
primitive neuroectodermal tumor -1.100 6.0e-04
acute quadriplegic myopathy -1.051 2.3e-04
non-small cell lung cancer -1.050 9.9e-10
lung cancer -3.200 1.4e-04
colon cancer -1.500 1.2e-02
adult high grade glioma -1.800 1.4e-04
spina bifida -1.745 3.8e-02
ductal carcinoma in situ -1.300 2.6e-03
acute myeloid leukemia -1.700 2.7e-02
ovarian cancer -1.900 1.3e-05

Synonym

Accession Q96CV9 B3KP00 D3DRS4 D3DRS8 Q5T672 Q5T673 Q5T674 Q5T675 Q7LDL9 Q8N562 Q9UET9 Q9UEV4 Q9Y218
Symbols NRP
FIP2
HIP7
HYPL
ALS12
GLC1E
TFIIIA-INTP

Gene

OPTN

PDB

5B83   2LO4   2LUE   3VTV   3VTW   5AAZ  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (19)

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 GO Function (7)

 GO Component (11)

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 GO Process (14)

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 Compartment GO Term (45)

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 IMPC Phenotype (5)

 OMIM Phenotype (3)

 MGI Phenotype (2)

 GWAS Trait (1)

 HCA RNA Cell Line (56)

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Pathway (11)

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Protein-protein Interaction (5)

SFI1   PCM1   SDCCAG8   TBC1D17   ZMYM6  

Gene RIF (135)

PMID Text
26740678 OPTN 691_692insAG is a founder mutation in Moroccan and Ashkenazi Jews with ALS.
26503823 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).
26497787 Familial linkage studies for primary angle-closure glaucoma have been performed and identified OPTN causative primary angle-closure glaucoma disease
26302410 A polymorphism of optineurin, M98K, associated with glaucoma, causes enhanced autophagy leading to transferrin receptor degradation and apoptotic death of retinal cells.
26266977 two receptors previously linked to xenophagy, NDP52 and optineurin, are the primary receptors for PINK1- and parkin-mediated mitophagy
26142952 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.
25943890 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
25923723 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).
25859013 Optineurin binding to myosin VI was also decreased in tissue lysates from sporadic amyotrophic lateral sclerosis spinal cords.
25855473 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.
25801386 optineurin is recruited to ubiquitinated mitochondria downstream of PARK2, and induces autophagosome assembly around mitochondria
25711070 According to molecular genetic studies, OPTN causative gene involved in the development of Primary open-angle glaucoma.
25484089 that ubiquitin (Ub)-binding domain mutants compromise the maturation of autophagosomes, which in turn interfered with optineurin-mediated autophagy and clearance of inclusion bodies
25398946 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.
25329564 Loss of optineurin in vivo results in elevated cell death and alters axonal trafficking dynamics
25294927 optineurin is an autophagy receptor in parkin-mediated mitophagy; defects in a single pathway can lead to neurodegenerative diseases with distinct pathologies
25096716 optineurin appears to play an important role in the maintenance of the podocyte Golgi complex.
25026213 HACE1-OPTN axis synergistically suppresses growth and tumorigenicity of lung cancer cells.
24943399 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.
24085347 Three mutations of OPTN were identified in Japanese Amyotrophic lateral sclerosis patients
24056041 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.
23889540 that the loss-of-function, but not the proteinopathy itself, of OPTN leads to multisystem neurodegeneration.
23811275 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.
23805866 NMR and crystal structures of the autophagy modifier LC3B in complex with the LC3 interaction region of optineurin.
23357852 Knockdown of Rab12 increased transferrin receptor level and reduced M98K-induced cell death.
23282279 Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene.
23062601 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.
22892313 The results of this study concluded that OPTN mutations associated with ALS are rare in British ALS patients.
22860700 OPTN in cooperation with TDP-43 might be involved in the pathophysiological mechanisms of skeletal muscular degeneration in myopathy
22854040 Optineurin acts as an adaptor to bring together Rab8 and its GTPase-activating protein TBC1D17.
22796589 identified a functional SNP located in the basal promoter of the UCMA/GRP gene which provided a weak genetic association with PDB. In addition, we replicated the strong genetic association of two already known SNPs of the OPTN gene
22708870 This study suggests that mutations in OPTN are not the main cause of ALS in the Japanese population.
22690120 OPTN expression is not altered in the blood of POAG patients.
22675546 Optineurin despite its substantial role in vesicular trafficking, endocytosis of cell surface receptors and recruitment to the TNFR1 complex is dispensable for the 14.7K-mediated protection against TNF-induced apoptosis.
22422156 Mutant Optineurin(E50K) acquired the ability to induce cell death through the mitochondrial caspase-dependent cell death pathway.
22402017 Our results suggest that the OPTN deletion mutation in ALS is not infrequent and the prevalence of the OPTN mutation in Japanese sporadic ALS is considerably high.
22365832 Plk1 phosphorylates Optineurin (Optn) at serine 177 and that this dissociates Optn from the Golgi-localized GTPase Rab8, inducing its translocation into the nucleus.
22364875 [review] Optineurin is involved in basic cellular functions including protein trafficking, maintenance of the Golgi apparatus, as well as the nuclear factor-kappaB pathway and antiviral and antibacteria signaling.
22318854 The results of this study suggested that OPTN may be involved in the formation of cytoplasmic and nuclear inclusions in many neurodegenerative diseases or may represent a secondary event with or without pathological effects.
22101367 The association of optineurin with Marinesco bodies may be evidence that they are a pathologic entity.
22040667 The mutation of optineurin abrogates inhibition of interferon regulatory factor-3 activation.
21852022 p.Gln165X in the OPTN gene mutation described in this study is the first mutation reported in a Danish family and is likely involved in disease pathogenesis
21825243 Optineurin is involved in the pathogenesis of sporadic amyotropic lateral sclerosis (ALS) and non-SOD1 familial ALS, thus supporting the hypothesis that these forms of ALS share a pathway that is distinct from that of SOD1-linked ALS.
21802176 Variations in optineurin appear to be a rare cause of rapidly progressive sporadic amyotrophic lateral sclerosis in the Netherlands.
21764520 suggested a new hypothesis for neurodegeneration in AD involving chronic optineurin neurotoxicity, mimicking NTG at the molecular level
21644038 We investigated a family manifesting indicates that patients with the E4787G OPTN mutation would manifest Golgi fragmentation before loss of nuclear TAR DNA-binding protein 43
21617041 phosphorylation of optineurin promoted selective autophagy of ubiquitin-coated cytosolic Salmonella enterica; TANK binding kinase 1 phosphorylated optineurin on ser-177, enhancing LC3 binding affinity and autophagic clearance of cytosolic Salmonella
21613650 optineurin mutations are analyzed in patients with familial and sporadic amyotrophic lateral sclerosis
21550138 The results indicated that OPTN mutations causing ALS are rare, especially in mainly Caucasian ALS subjects.
21408173 These results suggest that optineurin regulates NF-kappaB activation by mediating interaction of CYLD with ubiquitinated RIP thus facilitating deubiquitination of RIP.
21284751 demonstrated that optineurin was found not only in amyotrophic lateral sclerosis (ALS)-associated pathological structures, but also in ubiquitin-positive intraneuronal inclusions in ALS with dementia
21220178 The results of this study did not confirm the contribution of OPTN in ALS.
21217154 OPTN mutation is not a common cause of amyotrophic lateral sclerosis in Japanese
21148290 results suggest a novel role for myosin VI and optineurin in regulation of fusion pores formed between secretory vesicles and the plasma membrane during the final stages of secretion
21074902 Therefore, we sequenced OPTN in 371 FTLD cases but no mutations were detected, suggesting changes in OPTN do not cause FTLD.
21074902 Observational study of gene-disease association. (HuGE Navigator)
21074290 Observational study of gene-disease association. (HuGE Navigator)
20839008 genetic risk for Paget's disease of bone is associated with variants close to CSF1, OPTN, TM7SF4, and TNFRSF11A genes
20801516 Observational study of genetic testing. (HuGE Navigator)
20671613 There is evidence of a modest positive association only between T34T polymorphism and primary open-angle glaucoma in Asians and adults.
20671613 Meta-analysis of gene-disease association. (HuGE Navigator)
20668460 Neither MYOC nor OPTN sequence variants seem to have a major role in the etiology of POAG in this population.
20668460 Observational study of gene-disease association. (HuGE Navigator)
20634958 The study demonstrates that overexpression of wild type optineurin results in impairment of the transferrin uptake in retinal pigment epithelial and retinal ganglion cells.
20604900 In migratory cells ablation of myosin VI or optineurin inhibits the polarized delivery of the epidermal growth factor receptor into the leading edge and leads to profound defects in lamellipodia formation.
20436471 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20436471 These studies provide new insights into the pathogenesis of PDB and identify OPTN, CSF1 and TNFRSF11A as candidate genes for disease susceptibility.
20428114 findings strongly suggest that OPTN is involved in the pathogenesis of amyotrophic lateral sclerosis
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20174559 This work identifies optineurin as a critical regulator of antiviral signalling and potential target for future antiviral therapy
20161783 Study provides new information regarding basic characteristics of optineurin that are important for future efforts in defining precisely how optineurin functions normally and how mutations may result in pathology.
20085643 The optineurin regulates endocytic trafficking of transferrin receptor to the juxtanuclear region.
19754948 Observational study of gene-disease association. (HuGE Navigator)
19710941 A novel mutation of a Lys322Glu change in OPTN is responsible for the familial case of primary open-angle glaucoma observed in northeastern China.
19340308 results suggest that there is a negative feedback loop in which TNFalpha-induced NF-kappaB activity mediates expression of optineurin, which itself functions as a negative regulator of NF-kappaB
19172505 Our data show no association between the five evaluated variants and POAG in the Brazilian population.
19172505 Observational study of gene-disease association. (HuGE Navigator)
19145250 Observational study of gene-disease association. (HuGE Navigator)
19096531 Coding variants in OPTN may not contribute to the risk for primary open-angle glaucoma in persons of West African descent.
18683701 A novel mutation of OPTN gene with Lys322Glu change is responsible for the occurrence of primary open angle glaucoma in a Chinese family.
18552856 TNF-alpha, an inflammatory cytokine, disrupts the localization of polycystin-2 to the plasma membrane and primary cilia through a scaffold protein, FIP2, which is induced by TNF-alpha
18385781 None of the mutations in OPTN are associated with juvenile-onset open-angle glaucoma. The variant M98K is not a risk factor and the variant c.-233+25C>G may be protective against glaucoma in Taiwanese.
18385781 Observational study of gene-disease association. (HuGE Navigator)
18307994 The OPTN[E50K] mutant associated with Primary Open Angle Glaucoma (POAG) displayed strikingly enhanced binding to TBK1, suggesting that this interaction may contribute to familial POAG caused by this mutation.
18195223 Timolol can reduce MYOC RNA levels in HTM cultures from some individuals. Timolol does not alter OPTN or WDR36 levels or ameliorate MYOC induction by dexamethasone in vitro.
17854769 These data therefore show that (i) Rab11a regulates cell surface abundance of both GLUT4 and FAT/CD36.
17702576 Optineurin competitively antagonized NEMO's binding to polyUb receptor-interacting protein, and its overexpression inhibited TNFalpha-induced NF-kappaB activation.
17663725 These results indicate that interaction exists between OPTN and MYOC genes.
17615537 Observational study of genotype prevalence. (HuGE Navigator)
17615537 In Spain, a minority of adult-onset ocular hypertension (OHT) primary open-angle glaucoma (POAG) patients carry heterozygous disease-causing mutations in the MYOC gene and OPTN is not involved in either OHT or POAG.
17563717 Observational study of gene-disease association. (HuGE Navigator)
17563717 3.59% of our primary open-angle glaucoma patients had mutations in the CYP1B1, MYOC, and OPTN genes; first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients
17293779 Observational study of gene-disease association. (HuGE Navigator)
17148662 This study highlights a possible role of OPTN in vesicle trafficking and Golgi integrity. It also provides in-sights into the possible mechanisms why E50K would exhibit a propensity toward the development of glaucoma.
17122126 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17122126 The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology.
16988596 Observational study of gene-disease association. (HuGE Navigator)
16988596 The results of this study support the rare association of OPTN sequence variants with familial forms of LTG.
16972651 Observational study of gene-disease association. (HuGE Navigator)
16885925 Observational study of gene-disease association. (HuGE Navigator)
16885188 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16688110 Observational study of gene-disease association. (HuGE Navigator)
16681888 Observational study of gene-disease association. (HuGE Navigator)
16440206 In this population, mutations in the optineurin gene are not associated with adult-onset primary open-angle glaucoma.
16385451 Observational study of gene-disease association. (HuGE Navigator)
16374045 Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin (MYOC) and optineurin (OPTN) identified at 2 of the loci.
16358725 Observational study of gene-disease association. (HuGE Navigator)
16205626 Observational study of gene-disease association. (HuGE Navigator)
16205626 Despite a putative mutation (Arg545Gln) in some patients, the present study does not suggest a significant involvement of OPTN in POAG patients of Indian origin.
16148883 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16091361 mGLuR1a signaling is attenuated by the huntingtin-binding protein optineurin
16043855 In this study, subjects with glaucoma who had the OPTN E50K mutation were found to have NTG (normal tension glaucoma) that appeared to be more severe than that in a control group
16020311 Observational study of gene-disease association. (HuGE Navigator)
15851979 The findings in the current study provide further evidence that MYOC and OPTN gene variants are rare causes of NTG normal tension glaucoma).
15557444 Observational study of gene-disease association. (HuGE Navigator)
15557444 OPTN gene is associated with primary open-angle glaucoma rather than normal-tension glaucoma in Japanese. Statistical analysis showed possible interaction between polymorphisms in OPTN and the TNF-alpha genes that would increase risk for glaucoma.
15498064 Observational study of gene-disease association. (HuGE Navigator)
15498064 Cross-sectional analysis from baseline observations of the BMES suggested that the M98K risk-associated allele appeared at a higher prevalence in high-tension glaucoma compared with controls
15370540 Polymorphismsin in optineurin gene is associayed with glaucoma disease progression
15326130 Mutations in OPTN are not specifically associated with low-pressure glaucoma, but can play a role in juvenile open-angle glaucoma.
15226658 Observational study of gene-disease association. (HuGE Navigator)
15226658 The association of the allelic variation (Met98Lys) in the OPTN gene in Japanese patients suggest that they are involved in the pathogenesis of POAG primary open-angle glaucoma) and NTG.
14755458 Observational study of gene-disease association. (HuGE Navigator)
14740994 Identification of Optineurin as an adult-onset glaucoma gene and its known interaction with a group of proteins provides the first opportunity to study biochemical pathways that are thought to be involved in causation of this group of eye disorders.
14627677 The OPTN M98K amino acid substitution mutation is potentially the most important single genetic factor contributing to genetic predisposition to primary open angle glaucoma.
14597044 This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma.
12939304 OPTN gene is the causative gene for POAG (primary open-angle glaucoma) and suggest a different mutation pattern of OPTN in Chinese than in whites.
12920093 The association of OPTN missense mutation M98K with normal tension glaucoma but not high tension glaucoma suggests genetic heterogeneity between these two phenotypes.
12912697 Observational study of gene-disease association. (HuGE Navigator)
12912697 The mutations in the optineurin gene associated with normal-tension glaucoma are not associated with adult-onset primary open-angle glaucoma
12811537 Observational study of gene-disease association. (HuGE Navigator)
12811537 No glaucoma-specific mutations were found in the OPTN gene in Japanese glaucoma patients. However, some novel single-nucleotide polymorphisms (SNPs) in the exons and introns are reported in this paper for the first time.
12646749 This study suggests that alterations in OPTN gene expression are not involved in the mechanisms regulating aqueous humor outflow after an increase in intraocular eye pressure.
12379221 Expression of optineurin in the trabecular meshwork is influenced by elevated intraocular pressure
11834836 identified as an adult-onset primary open-angle glaucoma gene

AA Sequence 

MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFE      1 - 70
ELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEK     71 - 140
DQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTA    141 - 210
LSKYRSRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEG    211 - 280
STEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNSAIPSELNE    281 - 350
KQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR    351 - 420
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKE    421 - 490
QLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE    491 - 560
VLPDIDTLQIHVMDCII                                                         561 - 577
//

Text Mined References (165)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26740678 2016 OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
26503823 2015 Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China.
26497787 2015 Advances in glaucoma genetics.
26302410 2016 Defects in autophagy caused by glaucoma-associated mutations in optineurin.
26266977 2015 The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy.
26142952 2016 Optineurin: The autophagy connection.
25943890 2015 Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
25923723 2015 Optineurin regulates the interferon response in a cell cycle-dependent manner.
25859013 2015 Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.
25855473 2015 Functional analysis of optineurin and some of its disease-associated mutants.
25803835 2015 Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
25801386 2015 Temporal dynamics of PARK2/parkin and OPTN/optineurin recruitment during the mitophagy of damaged mitochondria.
25711070 [Genetic studies of primary open-angle glaucoma].
25484089 2015 Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism.
25416956 2014 A proteome-scale map of the human interactome network.
25398946 2015 Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis.
25329564 2014 Loss of optineurin in vivo results in elevated cell death and alters axonal trafficking dynamics.
25294927 2014 Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation.
25096716 2014 Optineurin associates with the podocyte Golgi complex to maintain its structure.
25026213 2014 Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression.
24983867 2014 Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology.
24943399 2015 Disruption of macrophage pro-inflammatory cytokine release in Crohn's disease is associated with reduced optineurin expression in a subset of patients.
24752605 2014 E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.
24705354 2014 The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24136289 2013 Identification and comparative analysis of hepatitis C virus-host cell protein interactions.
24085347 2013 Amyotrophic lateral sclerosis: an update on recent genetic insights.
24056041 2013 Structural and functional analysis of FIP2 binding to the endosome-localised Rab25 GTPase.
23956131 2014 Interaction between optineurin and the bZIP transcription factor NRL.
23908376 2013 The LIR motif - crucial for selective autophagy.
23889540 2014 Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation.
23811275 2013 IRF-1-binding site in the first intron mediates interferon-?-induced optineurin promoter activation.
23805866 2013 Structural basis for phosphorylation-triggered autophagic clearance of Salmonella.
23669351 2013 Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23357852 2013 M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells.
23282279 2013 Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene.
23275563 2013 Development and application of a DNA microarray-based yeast two-hybrid system.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23062601 2013 A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.
22892313 2012 Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.
22860700 2013 Optineurin is potentially associated with TDP-43 and involved in the pathogenesis of inclusion body myositis.
22854040 2012 Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22796589 2012 Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone.
22708870 2012 Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.
22690120 2012 Absence of altered expression of optineurin in primary open angle glaucoma patients.
22675546 2012 E3-14.7K is recruited to TNF-receptor 1 and blocks TNF cytolysis independent from interaction with optineurin.
22422156 2012 Overexpressed mutant optineurin(E50K) induces retinal ganglion cells apoptosis via the mitochondrial pathway.
22402017 2012 Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.
22365832 2012 Plk1-dependent phosphorylation of optineurin provides a negative feedback mechanism for mitotic progression.
22364875 2012 Cellular and molecular biology of optineurin.
22318854 2012 Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington's, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease.
22101367 2012 Optineurin is colocalized with ubiquitin in Marinesco bodies.
22040667 2011 Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21903422 2011 Mapping a dynamic innate immunity protein interaction network regulating type I interferon production.
21852022 2012 Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.
21825243 2011 Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.
21802176 2012 Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.
21764520 2011 Hypothesis of optineurin as a new common risk factor in normal-tension glaucoma and Alzheimer's disease.
21644038 2011 Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation.
21623375 2011 Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
21617041 2011 Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth.
21613650 2011 Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.
21550138 2011 Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21408173 2011 Optineurin is required for CYLD-dependent inhibition of TNF?-induced NF-?B activation.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21284751 2011 Optineurin in neurodegenerative diseases.
21220178 2011 Screening of OPTN in French familial amyotrophic lateral sclerosis.
21217154 2012 Optineurin mutations in Japanese amyotrophic lateral sclerosis.
21148290 2011 Myosin VI and its binding partner optineurin are involved in secretory vesicle fusion at the plasma membrane.
21074902 2012 Analysis of optineurin in frontotemporal lobar degeneration.
21074290 2011 Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.
20839008 2010 The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20671613 2010 Meta-analysis of association between optineurin gene and primary open-angle glaucoma.
20668460 2010 Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.
20634958 2010 Impairment of protein trafficking upon overexpression and mutation of optineurin.
20604900 2010 Myosin VI and optineurin are required for polarized EGFR delivery and directed migration.
20436471 2010 Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
20428114 2010 Mutations of optineurin in amyotrophic lateral sclerosis.
20388642 2010 Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20174559 2010 Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection.
20161783 2010 Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene.
20085643 2010 Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19754948 2009 Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.
19710941 2009 A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.
19340308 2009 NF-kappaB mediates tumor necrosis factor alpha-induced expression of optineurin, a negative regulator of NF-kappaB.
19172505 2009 Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients.
19145250 2009 Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.
19096531 2008 Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
18683701 2008 [Study of novel mutation of OPTN gene in two primary open angle glaucoma families in northeast China].
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18552856 2008 A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease.
18385781 2008 Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma.
18307994 2008 Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.
18195223 2008 Effects of timolol on MYOC, OPTN, and WDR36 RNA levels.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17854769 2007 FIP2 and Rip11 specify Rab11a-mediated cellular distribution of GLUT4 and FAT/CD36 in H9c2-hIR cells.
17702576 2007 Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP.
17663725 2007 Interaction between two glaucoma genes, optineurin and myocilin.
17646400 2007 Functional dissection of Rab GTPases involved in primary cilium formation.
17615537 2007 Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
17563717 2007 Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.
17500595 2007 Huntingtin interacting proteins are genetic modifiers of neurodegeneration.
17389490 2007 A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.
17293779 2007 Variation in optineurin (OPTN) allele frequencies between and within populations.
17148662 2006 Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types.
17122126 2006 SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16988596 2006 Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.
16972651 2006 [Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16885925 2006 OPTN gene: profile of patients with glaucoma from India.
16885188 2006 The role of the Met98Lys optineurin variant in inherited optic nerve diseases.
16688110 2006 Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
16681888 2006 [Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].
16440206 2006 Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16374045 2006 Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family.
16358725 2005 [Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma].
16205626 2005 Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16148883 2005 SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.
16091361 2005 Inhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurin.
16043855 2005 Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.
16020311 2005 Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.
15851979 2005 Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.
15837803 2005 Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis.
15557444 2004 Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
15498064 2004 Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15370540 2004 Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients.
15326130 2004 Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15226658 2004 Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14755458 2004 Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.
14740994 2003 Optineurin in primary open angle glaucoma.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14627677 2003 The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma.
14597044 2003 Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
12939304 2003 Different optineurin mutation pattern in primary open-angle glaucoma.
12920093 2003 Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.
12912697 2003 Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.
12811537 2003 The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.
12646749 Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12379221 2002 Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure.
11834836 2002 Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
11495908 2001 Identification and characterization of a family of Rab11-interacting proteins.
11137014 2000 FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.
10807909 2000 Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway.
10756201 2000 Identification of a transcription factor IIIA-interacting protein.
10366446 1999 Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system.
9700202 1998 Huntingtin interacts with a family of WW domain proteins.
9497264 1998 Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.
9488477 1998 Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.