2d46: Difference between revisions
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|ACTIVITY= | |ACTIVITY= | ||
|GENE= CACNB4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | |GENE= CACNB4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | ||
|DOMAIN= | |||
|RELATEDENTRY= | |||
|RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2d46 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d46 OCA], [http://www.ebi.ac.uk/pdbsum/2d46 PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=2d46 RCSB]</span> | |||
}} | }} | ||
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==Disease== | ==Disease== | ||
Known | Known disease associated with this structure: Epilepsy, generalized idiopathic OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949 601949]], Epilepsy, juvenile myoclonic OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949 601949]], Episodic ataxia, type 5 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949 601949]] | ||
==About this Structure== | ==About this Structure== | ||
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[[Category: protein structure]] | [[Category: protein structure]] | ||
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Mar 31 02:30:08 2008'' | ||
Revision as of 02:30, 31 March 2008
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| Gene: | CACNB4 (Homo sapiens) | ||||||
| Resources: | FirstGlance, OCA, PDBsum, RCSB | ||||||
| Coordinates: | save as pdb, mmCIF, xml | ||||||
Solution Structure of the Human Beta4a-A Domain
OverviewOverview
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.
DiseaseDisease
Known disease associated with this structure: Epilepsy, generalized idiopathic OMIM:[601949], Epilepsy, juvenile myoclonic OMIM:[601949], Episodic ataxia, type 5 OMIM:[601949]
About this StructureAbout this Structure
2D46 is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
ReferenceReference
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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