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Recombinant Human Optineurin (OPTN)

In Stock
  • 中文名稱:
    人OPTN重組蛋白
  • 貨號:
    CSB-EP016363HU
  • 規格:
    ¥1836
  • 圖片:
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他:

產品詳情

  • 純度:
    Greater than 85% as determined by SDS-PAGE.
  • 基因名:
  • Uniprot No.:
  • 別名:
    14.7K interacting protein; Ag9 C5; ALS12; E3 14.7K interacting protein; E3-14.7K-interacting protein; FIP 2; FIP-2; FIP2; Glaucoma 1 open angle E (adult onset); Glaucoma 1 open angle E; GLC1E; HIP 7; HIP-7; HIP7; Huntingtin interacting protein 7; Huntingtin interacting protein HYPL; Huntingtin interacting protein L; Huntingtin yeast partner L; Huntingtin-interacting protein 7; Huntingtin-interacting protein L; HYPL; Injury inducible protein I 55; NEMO related protein; NEMO-related protein; NRP; Optic neuropathy inducing protein; Optic neuropathy-inducing protein; Optineurin; OPTN; OPTN_HUMAN; TFIIIA IntP; TFIIIA-IntP; Transcription factor IIIA interacting protein; Transcription factor IIIA-interacting protein; Tumor necrosis factor alpha inducible cellular protein containing leucine zipper domains
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Full Length
  • 來源:
    E.coli
  • 分子量:
    69.9 kDa
  • 表達區域:
    1-577aa
  • 氨基酸序列
    MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標簽:
    N-terminal 6xHis-tagged
  • 產品提供形式:
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 緩沖液:
    Tris-based buffer,50% glycerol
  • 儲存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期:
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期:
    3-7 business days
  • 注意事項:
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA:
    Please contact us to get it.

產品評價

靶點詳情

  • 功能:
    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. Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation. In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. 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 recruitment 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.; (Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.
  • 基因功能參考文獻:
    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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  • 相關疾病:
    Glaucoma 1, open angle, E (GLC1E); Glaucoma, normal pressure (NPG); Amyotrophic lateral sclerosis 12 (ALS12)
  • 亞細胞定位:
    Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle. Recycling endosome.
  • 組織特異性:
    Present in aqueous 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.
  • 數據庫鏈接:

    HGNC: 17142

    OMIM: 137760

    KEGG: hsa:10133

    STRING: 9606.ENSP00000263036

    UniGene: Hs.332706



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