6bq1 is a 6 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
[HYCCI_HUMAN] Hypomyelination - congenital cataract. The disease is caused by mutations affecting the gene represented in this entry.
Function
[HYCCI_HUMAN] May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system.[1]
Publication Abstract from PubMed
Plasma membrane (PM) phosphoinositides play essential roles in cell physiology, serving as both markers of membrane identity and signaling molecules central to the cell's interaction with its environment. The first step in PM phosphoinositide synthesis is the conversion of phosphatidylinositol (PI) to PI4P, the precursor of PI(4,5)P2 and PI(3,4,5)P3 This conversion is catalyzed by the PI4KIIIalpha complex, comprising a lipid kinase, PI4KIIIalpha, and two regulatory subunits, TTC7 and FAM126. We here report the structure of this complex at 3.6-A resolution, determined by cryo-electron microscopy. The proteins form an obligate approximately 700-kDa superassembly with a broad surface suitable for membrane interaction, toward which the kinase active sites are oriented. The structural complexity of the assembly highlights PI4P synthesis as a major regulatory junction in PM phosphoinositide homeostasis. Our studies provide a framework for further exploring the mechanisms underlying PM phosphoinositide regulation.
Architecture of the human PI4KIIIalpha lipid kinase complex.,Lees JA, Zhang Y, Oh MS, Schauder CM, Yu X, Baskin JM, Dobbs K, Notarangelo LD, De Camilli P, Walz T, Reinisch KM Proc Natl Acad Sci U S A. 2017 Dec 11. pii: 1718471115. doi:, 10.1073/pnas.1718471115. PMID:29229838[2]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
References
↑ Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. Epub 2006 Sep 3. PMID:16951682 doi:http://dx.doi.org/10.1038/ng1870
↑ Lees JA, Zhang Y, Oh MS, Schauder CM, Yu X, Baskin JM, Dobbs K, Notarangelo LD, De Camilli P, Walz T, Reinisch KM. Architecture of the human PI4KIIIalpha lipid kinase complex. Proc Natl Acad Sci U S A. 2017 Dec 11. pii: 1718471115. doi:, 10.1073/pnas.1718471115. PMID:29229838 doi:http://dx.doi.org/10.1073/pnas.1718471115
