8.A.157.  The Optineurin (OPTN) Family 

Optineurin plays an important role in the maintenance of the Golgi complex, in membrane trafficking and in exocytosis, through its interaction with myosin VI and Rab8 (Fifita et al. 2017). It links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (Fifita et al. 2017). Overexpressed mutant optineurin(E50K) induces retinal ganglion cells apoptosis via the mitochondrial pathway (Meng et al. 2012). OPTN gene therapy may be a strategy to increase autophagy and protect mitochondria, preventing the progression of ALS (Wen et al. 2023).

 


 

References:

Fifita, J.A., K.L. Williams, V. Sundaramoorthy, E.P. Mccann, G.A. Nicholson, J.D. Atkin, and I.P. Blair. (2017). A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. Amyotroph Lateral Scler Frontotemporal Degener 18: 126-133.

Meng, Q., J. Lv, H. Ge, L. Zhang, F. Xue, Y. Zhu, and P. Liu. (2012). Overexpressed mutant optineurin(E50K) induces retinal ganglion cells apoptosis via the mitochondrial pathway. Mol Biol Rep 39: 5867-5873.

Wen, D., Y. Ji, Y. Li, W. Duan, Y. Wang, Z. Li, M. Tao, and Y. Liu. (2023). OPTN gene therapy increases autophagy and protects mitochondria in SOD1-G93A-expressing transgenic miceĀ and cells. FEBS J. [Epub: Ahead of Print]

Examples:

TC#NameOrganismal TypeExample
8.A.157.1.1

Optineurin, OPTN, of 577 aas. See family description for details.

OPTN of Homo sapiens

 
8.A.157.1.2

Optineurin-like protein, OPTN-L, of 609 aa

OPTN-L of Penaeus vannamei

 
8.A.157.1.3

NF-kappa-B essential modulator isoform X3 of 610 aa

NF-κ-B modulator of Acanthopagrus latus

 
8.A.157.1.4

Uncharacterized protein of 557 aas.

UP of Anopheles gambiae

 
Examples:

TC#NameOrganismal TypeExample
8.A.157.2.1

Optineurin-like isoform X2, OPTN-L-X2, of 579 aas

OPTN-L-X2 of Hyalella azteca