Details for: OPTN

Gene ID: 10133

Symbol: OPTN

Ensembl ID: ENSG00000123240

Description: optineurin

Associated with

Other Information

Genular Protein ID: 3563233245

Symbol: OPTN_HUMAN

Name: Optineurin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9488477

Title: Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains.

PubMed ID: 9488477

DOI: 10.1128/mcb.18.3.1601

PubMed ID: 11834836

Title: Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

PubMed ID: 11834836

DOI: 10.1126/science.1066901

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9700202

Title: Huntingtin interacts with a family of WW domain proteins.

PubMed ID: 9700202

DOI: 10.1093/hmg/7.9.1463

PubMed ID: 11137014

Title: FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.

PubMed ID: 11137014

DOI: 10.1016/s0960-9822(00)00864-2

PubMed ID: 10807909

Title: Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway.

PubMed ID: 10807909

DOI: 10.1074/jbc.m001500200

PubMed ID: 10756201

Title: Identification of a transcription factor IIIA-interacting protein.

PubMed ID: 10756201

DOI: 10.1093/nar/28.9.1986

PubMed ID: 12379221

Title: Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure.

PubMed ID: 12379221

DOI: 10.1016/s0006-291x(02)02395-1

PubMed ID: 12646749

Title: Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation.

PubMed ID: 12646749

DOI: 10.1159/000069133

PubMed ID: 15837803

Title: Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis.

PubMed ID: 15837803

DOI: 10.1083/jcb.200501162

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20085643

Title: Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.

PubMed ID: 20085643

DOI: 10.1186/1471-2121-11-4

PubMed ID: 20388642

Title: Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

PubMed ID: 20388642

DOI: 10.1093/hmg/ddq146

PubMed ID: 20174559

Title: Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection.

PubMed ID: 20174559

DOI: 10.1371/journal.ppat.1000778

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22854040

Title: Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.

PubMed ID: 22854040

DOI: 10.1242/jcs.102327

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23908376

Title: The LIR motif - crucial for selective autophagy.

PubMed ID: 23908376

DOI: 10.1242/jcs.126128

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24705354

Title: The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.

PubMed ID: 24705354

DOI: 10.1093/hmg/ddu137

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 27538435

Title: The Golgi apparatus acts as a platform for TBK1 activation after viral RNA sensing.

PubMed ID: 27538435

DOI: 10.1186/s12915-016-0292-z

PubMed ID: 23805866

Title: Structural basis for phosphorylation-triggered autophagic clearance of Salmonella.

PubMed ID: 23805866

DOI: 10.1042/bj20121907

PubMed ID: 14627677

Title: The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma.

PubMed ID: 14627677

DOI: 10.1136/jmg.40.11.842

PubMed ID: 12939304

Title: Different optineurin mutation pattern in primary open-angle glaucoma.

PubMed ID: 12939304

DOI: 10.1167/iovs.02-0693

PubMed ID: 14597044

Title: Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.

PubMed ID: 14597044

DOI: 10.1016/s0002-9394(03)00577-4

PubMed ID: 23357852

Title: M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells.

PubMed ID: 23357852

DOI: 10.4161/auto.23458

PubMed ID: 24752605

Title: E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.

PubMed ID: 24752605

DOI: 10.1371/journal.pone.0095758

PubMed ID: 23669351

Title: Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.

PubMed ID: 23669351

DOI: 10.1093/hmg/ddt210

PubMed ID: 15498064

Title: Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the blue mountains eye study.

PubMed ID: 15498064

DOI: 10.1111/j.1442-9071.2004.00886.x

PubMed ID: 15326130

Title: Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

PubMed ID: 15326130

DOI: 10.1167/iovs.04-0107

PubMed ID: 15557444

Title: Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

PubMed ID: 15557444

DOI: 10.1167/iovs.03-1403

PubMed ID: 15226658

Title: Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.

PubMed ID: 15226658

DOI: 10.1097/00061198-200408000-00007

PubMed ID: 15370540

Title: Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients.

PubMed ID: 15370540

DOI: 10.1080/13816810490514298

PubMed ID: 17389490

Title: A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.

PubMed ID: 17389490

DOI: 10.1167/iovs.06-0834

PubMed ID: 20428114

Title: Mutations of optineurin in amyotrophic lateral sclerosis.

PubMed ID: 20428114

DOI: 10.1038/nature08971

PubMed ID: 21617041

Title: Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth.

PubMed ID: 21617041

DOI: 10.1126/science.1205405

PubMed ID: 31371777

Title: Structure of Myosin VI/Tom1 complex reveals a cargo recognition mode of Myosin VI for tethering.

PubMed ID: 31371777

DOI: 10.1038/s41467-019-11481-6

PubMed ID: 32185393

Title: CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

PubMed ID: 32185393

DOI: 10.1093/brain/awaa039

PubMed ID: 27534431

Title: A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

PubMed ID: 27534431

DOI: 10.1080/21678421.2016.1218517

Sequence Information:

  • Length: 577
  • Mass: 65922
  • Checksum: 2BAF841BA515AAE2
  • Sequence:
  • MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE NHQLKEAMKL 
    NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL SHENEKLKEE LGKLKGKSER 
    SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL QAEKADLLGI VSELQLKLNS SGSSEDSFVE 
    IRMAEGEAEG SVKEIKHSPG PTRTVSTGTA LSKYRSRSAD GAKNYFEHEE LTVSQLLLCL 
    REGNQKVERL EVALKEAKER VSDFEKKTSN RSEIETQTEG STEKENDEEK GPETVGSEVE 
    ALNLQVTSLF KELQEAHTKL SEAELMKKRL QEKCQALERK NSAIPSELNE KQELVYTNKK 
    LELQVESMLS EIKMEQAKTE DEKSKLTVLQ MTHNKLLQEH NNALKTIEEL TRKESEKVDR 
    AVLKELSEKL ELAEKALASK QLQMDEMKQT IAKQEEDLET MTILRAQMEV YCSDFHAERA 
    AREKIHEEKE QLALQLAVLL KENDAFEDGG RQSLMEMQSR HGARTSDSDQ QAYLVQRGAE 
    DRDWRQQRNI PIHSCPKCGE VLPDIDTLQI HVMDCII

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.