2h8r
From Proteopedia
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| - | [[Image:2h8r.gif|left|200px]] | + | [[Image:2h8r.gif|left|200px]] |
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| - | '''Hepatocyte Nuclear Factor 1b bound to DNA: MODY5 Gene Product''' | + | {{Structure |
| + | |PDB= 2h8r |SIZE=350|CAPTION= <scene name='initialview01'>2h8r</scene>, resolution 3.20Å | ||
| + | |SITE= | ||
| + | |LIGAND= | ||
| + | |ACTIVITY= | ||
| + | |GENE= | ||
| + | }} | ||
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| + | '''Hepatocyte Nuclear Factor 1b bound to DNA: MODY5 Gene Product''' | ||
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==Overview== | ==Overview== | ||
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==About this Structure== | ==About this Structure== | ||
| - | 2H8R is a [ | + | 2H8R 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=2H8R OCA]. |
==Reference== | ==Reference== | ||
| - | Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta., Lu P, Rha GB, Chi YI, Biochemistry. 2007 Oct 30;46(43):12071-80. Epub 2007 Oct 9. PMID:[http:// | + | Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta., Lu P, Rha GB, Chi YI, Biochemistry. 2007 Oct 30;46(43):12071-80. Epub 2007 Oct 9. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/17924661 17924661] |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Single protein]] | [[Category: Single protein]] | ||
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[[Category: trasncription factor]] | [[Category: trasncription factor]] | ||
| - | ''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 17:14:07 2008'' |
Revision as of 15:14, 20 March 2008
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| , resolution 3.20Å | |||||||
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| Coordinates: | save as pdb, mmCIF, xml | ||||||
Hepatocyte Nuclear Factor 1b bound to DNA: MODY5 Gene Product
Contents |
Overview
HNF1beta is an atypical POU transcription factor that participates in a hierarchical network of transcription factors controlling the development and proper function of vital organs such as liver, pancreas, and kidney. Many inheritable mutations on HNF1beta are the monogenic causes of diabetes and several kidney diseases. To elucidate the molecular mechanism of its function and the structural basis of mutations, we have determined the crystal structure of human HNF1beta DNA binding domain in complex with a high-affinity promoter. Disease-causing mutations have been mapped to our structure, and their predicted effects have been tested by a set of biochemical/ functional studies. These findings together with earlier findings with a homologous protein HNF1alpha, help us to understand the structural basis of promoter recognition by these atypical POU transcription factors and the site-specific functional disruption by disease-causing mutations.
Disease
Known diseases associated with this structure: Diabetes mellitus, noninsulin-dependent OMIM:[189907], Diabetes, type 2, protection against OMIM:[189907], Prostate cancer, susceptibility to OMIM:[189907], Renal cell carcinoma OMIM:[189907], Renal cysts and diabetes syndrome OMIM:[189907]
About this Structure
2H8R is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta., Lu P, Rha GB, Chi YI, Biochemistry. 2007 Oct 30;46(43):12071-80. Epub 2007 Oct 9. PMID:17924661
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