Optineurin Knowpia

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)
End	13,138,308 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	5,068,862 bp
RNA expression pattern
	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
	; ;
	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
	10133
	71648
	ENSG00000123240
	ENSMUSG00000026672
	Q96CV9
	Q8K3K8
	NM_001008211; NM_001008212; NM_001008213; NM_021980
	NM_181848; NM_001356487
	NP_001008212; NP_001008213; NP_001008214; NP_068815
	NP_862896; NP_001343416
	Wikidata
View/Edit Human	View/Edit Mouse

Optineurin is a protein that in humans is encoded by the OPTN gene.^[5]^[6]^[7]

Function edit

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 edit

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

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000123240 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026672 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M (February 2002). "Adult-onset primary open-angle glaucoma caused by mutations in optineurin". Science. 295 (5557): 1077–9. Bibcode:2002Sci...295.1077R. doi:10.1126/science.1066901. PMID 11834836. S2CID 23635499.
^ Li Y, Kang J, Horwitz MS (March 1998). "Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains". Molecular and Cellular Biology. 18 (3): 1601–10. doi:10.1128/mcb.18.3.1601. PMC 108875. PMID 9488477.
^ ^a ^b "Entrez Gene: OPTN optineurin".
^ Ames J, Yadavalli T, Suryawanshi R, Hopkins J, Agelidis A, Patil C, Fredericks B, Tseng H, Valyi-Nagy T, Shukla D (13 September 2021). "OPTN is a host intrinsic restriction factor against neuroinvasive HSV-1 infection". Nature Communications. 12 (1): 5401. Bibcode:2021NatCo..12.5401A. doi:10.1038/s41467-021-25642-z. ISSN 2041-1723. PMC 8437952. PMID 34518549.
^ Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (September 1998). "Huntingtin interacts with a family of WW domain proteins". Human Molecular Genetics. 7 (9): 1463–74. doi:10.1093/hmg/7.9.1463. PMID 9700202.
^ ^a ^b Hattula K, Peränen J (2000). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology. 10 (24): 1603–6. Bibcode:2000CBio...10.1603H. doi:10.1016/S0960-9822(00)00864-2. PMID 11137014. S2CID 12836037.