optineurin; optic neuropathy-inducing protein; E3-14.7K-interacting protein; FIP-2; huntingtin-interacting protein L; huntingtin yeast partner L; huntingtin-interacting protein 7; HIP-7; NEMO-related protein; transcription factor IIIA-interacting protein; TFIIIA-intP (OPTN, FIP2, GLC1E, HIP7, HYPL, NRP)
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Function
- neuroprotective role in the eye & optic nerve
- TNF-alpha signaling pathway (putative)
- membrane trafficking & cellular morphogenesis
- cellular target for adenovirus E3 14.7
- interacts with adenovirus E3 14.7 kD, hungtingtin, Rab8, GTF3A
- phosphorylation by PKC, diminishes 1/2life
Compartment
cytoplasm, perinuclear region, Golgi
Expression
- expressed in acqueous humor of the eye, trabecular meshwork, nonpigmented ciliary epithelium, retina, brain, adrenal cortex, fetus, lymphocyte, fibroblast, skeletal muscle, heart, liver, brain, placenta
- induction by TNF-alpha
- regulation of expression by intraocular pressure is controversial[4][5]
Pathology
- defects in OPTN are a cause of adult-onset primary open angle glaucoma
- defects in OPTN may be a cause of juvenile-onset primary open angle glaucoma
- defects in OPTN may be a cause of normal pressure glaucoma
More general terms
Additional terms
References
- ↑ Journal Watch 22(6):50, 2002 Rezaie T et al Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295:1077, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11834836
- ↑ UniProt http://www.uniprot.org/uniprot/Q96CV9.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/OPTN
- ↑ 4.0 4.1 Vittitow J, Borras T. Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. Biochem Biophys Res Commun. 2002 Oct 18;298(1):67-74. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12379221
- ↑ 5.0 5.1 Kamphuis W, Schneemann A. Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation. Ophthalmic Res. 2003 Mar-Apr;35(2):93-6. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12646749
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10133
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:10133
- OMIM: https://mirror.omim.org/entry/137760
- OMIM: https://mirror.omim.org/entry/602432
- OMIM: https://mirror.omim.org/entry/606657
- UniProt: http://www.uniprot.org/uniprot/Q96CV9.html