2lue

<StructureSection load='2lue' size='340' side='right'caption='[[2lue]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>

<table><tr><td colspan='2'>[[2lue]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LUE OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LUE FirstGlance]. <br>

</td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=SEP:PHOSPHOSERINE'>SEP</scene></td></tr>

<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[3vtu|3vtu]], [[3vtv|3vtv]], [[3vtw|3vtw]]</div></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MAP1LC3B, MAP1ALC3 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

== Disease ==

[[https://www.uniprot.org/uniprot/OPTN_HUMAN OPTN_HUMAN]] Amyotrophic lateral sclerosis;Congenital glaucoma. Primary open angle glaucoma 1E (GLC1E) [MIM:[https://omim.org/entry/137760 137760]]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:11834836</ref> <ref>PMID:12939304</ref> <ref>PMID:14597044</ref> <ref>PMID:15326130</ref> <ref>PMID:15557444</ref> <ref>PMID:15226658</ref> Normal pressure glaucoma (NPG) [MIM:[https://omim.org/entry/606657 606657]]: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.<ref>PMID:15370540</ref> Amyotrophic lateral sclerosis 12 (ALS12) [MIM:[https://omim.org/entry/613435 613435]]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:20428114</ref>

[[https://www.uniprot.org/uniprot/MLP3B_HUMAN MLP3B_HUMAN]] Involved in formation of autophagosomal vacuoles (autophagosomes). [[https://www.uniprot.org/uniprot/OPTN_HUMAN OPTN_HUMAN]] Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Negatively regulates the induction of IFNB in response to RNA virus infection. Plays a neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death.<ref>PMID:11834836</ref> <ref>PMID:15837803</ref> <ref>PMID:20174559</ref>

[[Category: Human]]

[[Category: Doetsch, V]]

[[Category: Guentert, P]]

[[Category: Loehr, F]]

[[Category: Rogov, V V]]

[[Category: Rozenknop, A]]

[[Category: Signaling protein]]