2d46
From Proteopedia
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Solution Structure of the Human Beta4a-A Domain
Contents |
Overview
Ca2+ channel beta subunits regulate trafficking and gating (opening and, closing) of voltage-dependent Ca2+ channel alpha1 subunits. Based on, primary sequence comparisons, they are thought to be modular structures, composed of five domains (A-E) that are related to the large family of, membrane associated guanylate-kinase (MAGUK) proteins. The crystal, structures of the beta subunit core, B-D, domains have recently been, reported; however, very little is known about the structures of the A and, E domains. The N-terminal A domain is a hypervariable region that differs, among the four subtypes of Ca2+ channel beta subunits (beta1-beta4)., Furthermore, this domain undergoes alternative splicing to create multiple, N-terminal structures within a given gene class that have distinct effects, on gating. We have solved the solution structure of the A domain of the, human beta4a subunit, a splice variant that we have shown previously to, have alpha1 subunit subtype-specific effects on Ca2+ channel trafficking, and gating.
Disease
Known diseases associated with this structure: Epilepsy, generalized idiopathic OMIM:[601949], Epilepsy, juvenile myoclonic OMIM:[601949], Episodic ataxia, type 5 OMIM:[601949]
About this Structure
2D46 is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit., Vendel AC, Rithner CD, Lyons BA, Horne WA, Protein Sci. 2006 Feb;15(2):378-83. Epub 2005 Dec 29. PMID:16385006
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