2h8r
From Proteopedia
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==Overview== | ==Overview== | ||
| - | HNF1beta is an atypical POU transcription factor that participates in a | + | 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== | ==Disease== | ||
| - | Known diseases associated with this structure: Diabetes mellitus, noninsulin-dependent OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]], Diabetes, type 2, protection against OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]], Prostate cancer, susceptibility to OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]], Renal cysts and diabetes syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]] | + | Known diseases associated with this structure: Diabetes mellitus, noninsulin-dependent OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]], Diabetes, type 2, protection against OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]], Prostate cancer, susceptibility to OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]], Renal cell carcinoma OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]], Renal cysts and diabetes syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907 189907]] |
==About this Structure== | ==About this Structure== | ||
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[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Single protein]] | [[Category: Single protein]] | ||
| - | [[Category: Chi, Y | + | [[Category: Chi, Y I.]] |
[[Category: Lu, P.]] | [[Category: Lu, P.]] | ||
| - | [[Category: Rha, G | + | [[Category: Rha, G B.]] |
[[Category: homeo]] | [[Category: homeo]] | ||
[[Category: human disease]] | [[Category: human disease]] | ||
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[[Category: trasncription factor]] | [[Category: trasncription factor]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 21 17:39:22 2008'' |
Revision as of 15:39, 21 February 2008
|
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
Page seeded by OCA on Thu Feb 21 17:39:22 2008
