Gene
optn
- ID
- ZDB-GENE-030131-8103
- Name
- optineurin
- Symbol
- optn Nomenclature History
- Previous Names
-
- si:ch211-240l19.3
- wu:fj52f04
- zgc:66386
- zgc:77868
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity. Acts upstream of or within axonogenesis; defense response to bacterium; and vesicle localization. Predicted to be located in autophagosome; perinuclear region of cytoplasm; and recycling endosome. Predicted to be active in Golgi apparatus and nucleus. Is expressed in several structures, including brain; eye; muscle; periocular mesenchyme; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Paget's disease of bone; amyotrophic lateral sclerosis (multiple); and glaucoma (multiple). Orthologous to human OPTN (optineurin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66386 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 12 | Alliance | Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia | 613435 |
| primary open angle glaucoma | Alliance | Glaucoma 1, open angle, E | 137760 |
| {Glaucoma, normal tension, susceptibility to} | 606657 |
1 - 3 of 3
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | NEMO, Zinc finger | NF-kappa-B essential modulator NEMO, CC2-LZ domain | NF-kappa-B essential modulator NEMO, N-terminal | Optineurin/NF-kappa-B Essential Modulator |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q5S4 | InterPro | 519 | ||||
| UniProtKB:Q5RI56 | InterPro | 517 | ||||
| UniProtKB:A0A8M9QAZ9 | InterPro | 522 |
1 - 3 of 3
- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-optn | polyclonal | Rabbit |
|
Cayman Chemical Company
|
4 |
1 - 1 of 1
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-220P15 | ZFIN Curated Data | |
| Contained in | BAC | CH211-240L19 | ZFIN Curated Data | |
| Encodes | EST | fj52f04 | ||
| Encodes | cDNA | MGC:66386 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:77868 | ZFIN Curated Data |
1 - 5 of 5
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001100066 (1) | 2320 nt | ||
| Genomic | GenBank:BX321885 (1) | 155649 nt | ||
| Polypeptide | UniProtKB:A0A8M9QAZ9 (1) | 522 aa |
- Xie, J., Meijer, A.H. (2024) Xenophagy receptors Optn and p62 and autophagy modulator Dram1 independently promote the zebrafish host defense against Mycobacterium marinum. Frontiers in cellular and infection microbiology. 13:13318181331818
- Silva, I.A.L., Varela, D., Cancela, M.L., Conceição, N. (2022) Zebrafish optineurin: genomic organization and transcription regulation. Genome. 65(10):513-523
- Zhang, R., Varela, M., Vallentgoed, W., Forn-Cuni, G., van der Vaart, M., Meijer, A.H. (2019) The selective autophagy receptors Optineurin and p62 are both required for zebrafish host resistance to mycobacterial infection. PLoS pathogens. 15:e1007329
- Chew, T.S., O'Shea, N.R., Sewell, G.W., Oehlers, S.H., Mulvey, C.M., Crosier, P.S., Godovac-Zimmermann, J., Bloom, S.L., Smith, A.M., Segal, A.W. (2015) Optineurin deficiency contributes to impaired cytokine secretion and neutrophil recruitment in bacteria driven colitis. Disease models & mechanisms. 8(8):817-29
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- Schilter, K.F., Reis, L.M., Sorokina, E.A., Semina, E.V. (2015) Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular genetics & genomic medicine. 3:490-9
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- Paulus, J.D., Link, B.A. (2014) Loss of Optineurin In Vivo Results in Elevated Cell Death and Alters Axonal Trafficking Dynamics. PLoS One. 9:e109922
- Korac, J., Schaeffer, V., Kovacevic, I., Clement, A.M., Jungblut, B., Behl, C., Terzic, J., and Dikic, I. (2013) Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates. Journal of Cell Science. 126(2):580-592
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
1 - 10 of 12
Show