1jbi
From Proteopedia
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| - | [[Image:1jbi.jpg|left|200px]] | + | [[Image:1jbi.jpg|left|200px]] |
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| - | '''NMR structure of the LCCL domain''' | + | {{Structure |
| + | |PDB= 1jbi |SIZE=350|CAPTION= <scene name='initialview01'>1jbi</scene> | ||
| + | |SITE= | ||
| + | |LIGAND= | ||
| + | |ACTIVITY= | ||
| + | |GENE= M13mp18 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | ||
| + | }} | ||
| + | |||
| + | '''NMR structure of the LCCL domain''' | ||
| + | |||
==Overview== | ==Overview== | ||
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==About this Structure== | ==About this Structure== | ||
| - | 1JBI is a [ | + | 1JBI is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1JBI OCA]. |
==Reference== | ==Reference== | ||
| - | NMR structure of the LCCL domain and implications for DFNA9 deafness disorder., Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G, EMBO J. 2001 Oct 1;20(19):5347-53. PMID:[http:// | + | NMR structure of the LCCL domain and implications for DFNA9 deafness disorder., Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G, EMBO J. 2001 Oct 1;20(19):5347-53. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/11574466 11574466] |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Single protein]] | [[Category: Single protein]] | ||
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[[Category: alpha-beta protein]] | [[Category: alpha-beta protein]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 12:01:09 2008'' |
Revision as of 10:01, 20 March 2008
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| Gene: | M13mp18 (Homo sapiens) | ||||||
| Coordinates: | save as pdb, mmCIF, xml | ||||||
NMR structure of the LCCL domain
Contents |
Overview
The LCCL domain is a recently discovered, conserved protein module named after its presence in Limulus factor C, cochlear protein Coch-5b2 and late gestation lung protein Lgl1. The LCCL domain plays a key role in the autosomal dominant human deafness disorder DFNA9. Here we report the nuclear magnetic resonance (NMR) structure of the LCCL domain from human Coch-5b2, where dominant mutations leading to DFNA9 deafness disorder have been identified. The fold is novel. Four of the five known DFNA9 mutations are shown to involve at least partially solvent-exposed residues. Except for the Trp91Arg mutant, expression of these four LCCL mutants resulted in misfolded proteins. These results suggest that Trp91 participates in the interaction with a binding partner. The unexpected sensitivity of the fold with respect to mutations of solvent-accessible residues might be attributed to interference with the folding pathway of this disulfide-containing domain.
Disease
Known diseases associated with this structure: Deafness, autosomal dominant 9 OMIM:[603196], Meniere disease 156000 (3) OMIM:[603196]
About this Structure
1JBI is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
NMR structure of the LCCL domain and implications for DFNA9 deafness disorder., Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G, EMBO J. 2001 Oct 1;20(19):5347-53. PMID:11574466
Page seeded by OCA on Thu Mar 20 12:01:09 2008
