Optineurin: Difference between revisions

Latest revision as of 20:45, 30 December 2024

Optineurin is a protein that in humans is encoded by the OPTN gene. It is involved in various cellular processes, including vesicle trafficking, inflammation, and autophagy.

Function[edit]

Optineurin plays a crucial role in the maintenance of cellular homeostasis. It is known to be involved in the regulation of NF-kB signaling, a pathway that is critical for immune response and cell survival. Optineurin also participates in the process of autophagy, where it helps in the clearance of damaged organelles and protein aggregates.

Clinical Significance[edit]

Mutations in the OPTN gene have been associated with several diseases. Notably, optineurin mutations are linked to primary open-angle glaucoma (POAG), a common form of glaucoma that leads to progressive vision loss. Additionally, mutations in optineurin have been implicated in amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder that affects motor neurons.

Interactions[edit]

Optineurin interacts with various proteins to exert its functions. It binds to ubiquitin, a small regulatory protein that tags other proteins for degradation. Optineurin also interacts with TBK1 (TANK-binding kinase 1), which is involved in the regulation of innate immunity.

Research[edit]

Ongoing research is focused on understanding the precise mechanisms by which optineurin mutations contribute to disease. Studies are exploring the role of optineurin in neurodegeneration and its potential as a therapeutic target for conditions like ALS and glaucoma.

References[edit]

External Links[edit]

[GeneCards: OPTN](https://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN)
[UniProt: Q96CV9](https://www.uniprot.org/uniprot/Q96CV9)

@@ Line 1: / Line 1: @@
 {{Infobox protein
 | name = Optineurin
-| image = Optineurin_structure.png
+| image = <!-- Image of the protein, if available -->
-| caption = Crystal structure of Optineurin
+| caption = <!-- Caption for the image -->
 | symbol = OPTN
 | HGNCid = 8147
 | OMIM = 602432
-| EntrezGene = 10133
+| RefSeq = NM_021980
-| RefSeq = NM_001008211
 | UniProt = Q96CV9
 }}
-'''Optineurin''' is a protein encoded by the ''OPTN'' gene in humans. It is involved in various cellular processes, including [[vesicle trafficking]], [[inflammation]], and [[autophagy]]. Optineurin has been implicated in several diseases, most notably [[glaucoma]] and [[amyotrophic lateral sclerosis]] (ALS).
+'''Optineurin''' is a protein that in humans is encoded by the [[OPTN gene]]. It is involved in various cellular processes, including [[vesicle trafficking]], [[inflammation]], and [[autophagy]].
-==Structure==
-Optineurin is a 577 amino acid protein with a molecular weight of approximately 66 kDa. It contains several functional domains, including a [[coiled-coil domain]], a [[zinc finger]] domain, and a [[ubiquitin]]-binding domain. These domains facilitate its interactions with other proteins and its involvement in cellular pathways.
-==Function==
-Optineurin plays a critical role in maintaining cellular homeostasis. It is involved in:
-* '''Vesicle Trafficking''': Optineurin interacts with [[Rab8]], a small GTPase, to regulate the trafficking of vesicles from the [[Golgi apparatus]] to the plasma membrane.
+== Function ==
-* '''Inflammation''': It acts as a negative regulator of the [[NF-kB]] signaling pathway, thereby modulating inflammatory responses.
+Optineurin plays a crucial role in the maintenance of cellular homeostasis. It is known to be involved in the regulation of [[NF-kB signaling]], a pathway that is critical for [[immune response]] and [[cell survival]]. Optineurin also participates in the process of [[autophagy]], where it helps in the clearance of damaged [[organelles]] and [[protein aggregates]].
-* '''Autophagy''': Optineurin is involved in the selective autophagy of damaged mitochondria, a process known as [[mitophagy]]. It interacts with the autophagy receptor [[LC3]] to facilitate the clearance of damaged organelles.
-==Clinical Significance==
+== Clinical Significance ==
-Mutations in the ''OPTN'' gene have been associated with several diseases:
+Mutations in the OPTN gene have been associated with several diseases. Notably, optineurin mutations are linked to [[primary open-angle glaucoma]] (POAG), a common form of [[glaucoma]] that leads to progressive [[vision loss]]. Additionally, mutations in optineurin have been implicated in [[amyotrophic lateral sclerosis]] (ALS), a neurodegenerative disorder that affects [[motor neurons]].
-* '''Glaucoma''': Certain mutations in ''OPTN'' are linked to normal-tension glaucoma, a condition characterized by damage to the optic nerve despite normal intraocular pressure.
+== Interactions ==
-* '''Amyotrophic Lateral Sclerosis (ALS)''': Mutations in ''OPTN'' have been identified in patients with ALS, a neurodegenerative disease affecting motor neurons.
+Optineurin interacts with various proteins to exert its functions. It binds to [[ubiquitin]], a small regulatory protein that tags other proteins for degradation. Optineurin also interacts with [[TBK1]] (TANK-binding kinase 1), which is involved in the regulation of [[innate immunity]].
-* '''Paget's Disease of Bone''': Some studies suggest a potential link between ''OPTN'' mutations and Paget's disease, although the evidence is less conclusive.
-==Research Directions==
+== Research ==
-Ongoing research is focused on understanding the precise molecular mechanisms by which optineurin mutations lead to disease. There is also interest in exploring optineurin as a potential therapeutic target for conditions like glaucoma and ALS.
+Ongoing research is focused on understanding the precise mechanisms by which optineurin mutations contribute to disease. Studies are exploring the role of optineurin in [[neurodegeneration]] and its potential as a therapeutic target for conditions like ALS and glaucoma.
-==Also see==
+== See Also ==
 * [[Glaucoma]]
 * [[Amyotrophic lateral sclerosis]]
 * [[Autophagy]]
 * [[NF-kB signaling pathway]]
-* [[Vesicle trafficking]]
-{{Protein-stub}}
+== References ==
-{{Glaucoma}}
+<references />
+== External Links ==
+* [GeneCards: OPTN](https://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN)
+* [UniProt: Q96CV9](https://www.uniprot.org/uniprot/Q96CV9)
 [[Category:Proteins]]