Optineurin

OPTN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LO4, 2LUE, 5AAZ
Identifiers
Aliases	OPTN, ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP, optineurin
External IDs	OMIM: 602432 MGI: 1918898 HomoloGene: 11085 GeneCards: OPTN
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p13 Start 13,099,449 bp[1] End 13,138,308 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 A1|2 3.15 cM Start 5,025,453 bp[2] End 5,068,862 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid gastrocnemius muscle triceps brachii muscle vastus lateralis muscle tendon thoracic diaphragm Achilles tendon deltoid muscle tibialis anterior muscle left ventricle Top expressed in jejunum iris retinal pigment epithelium spermatid myocardium of ventricle seminiferous tubule interventricular septum knee joint soleus muscle lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity protein C-terminus binding protein binding identical protein binding K63-linked polyubiquitin modification-dependent protein binding metal ion binding polyubiquitin modification-dependent protein binding Cellular component recycling endosome endosome Golgi membrane nucleoplasm autophagosome trans-Golgi network perinuclear region of cytoplasm nucleus Golgi apparatus cytoplasm cytosol recycling endosome membrane cytoplasmic vesicle Biological process Golgi organization cell death negative regulation of I-kappaB kinase/NF-kappaB signaling autophagy G2/M transition of mitotic cell cycle defense response to Gram-negative bacterium negative regulation of receptor recycling vesicle-mediated transport regulation of I-kappaB kinase/NF-kappaB signaling signal transduction Golgi to plasma membrane protein transport parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization positive regulation of xenophagy positive regulation of autophagy Unfolded Protein Response Golgi ribbon formation immune system process innate immune response protein localization to Golgi apparatus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10133 71648 Ensembl ENSG00000123240 ENSMUSG00000026672 UniProt Q96CV9 Q8K3K8 RefSeq (mRNA) NM_001008211 NM_001008212 NM_001008213 NM_021980 NM_181848 NM_001356487 RefSeq (protein) NP_001008212 NP_001008213 NP_001008214 NP_068815 NP_862896 NP_001343416 Location (UCSC) Chr 10: 13.1 – 13.14 Mb Chr 2: 5.03 – 5.07 Mb PubMed search [3] [4]
Wikidata
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Optineurin is a protein that in humans is encoded by the OPTN gene.^[5][6][7]

Function

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.^[7] OPTN is a host intrinsic restriction factor against neuroinvasive HSV-1 infection.^[8]

Interactions

Optineurin has been shown to interact with Huntingtin^[9][10] and RAB8A.^[10]

References

Further reading

External links

• OPTN human gene location in the UCSC Genome Browser.
• OPTN human gene details in the UCSC Genome Browser.

This page was last edited on 7 April 2024, at 11:25