1b4r: Difference between revisions
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[[Image:1b4r.jpg|left|200px]] | [[Image:1b4r.jpg|left|200px]] | ||
'''PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1''' | {{Structure | ||
|PDB= 1b4r |SIZE=350|CAPTION= <scene name='initialview01'>1b4r</scene> | |||
|SITE= | |||
|LIGAND= | |||
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'''PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1''' | |||
==Overview== | ==Overview== | ||
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==About this Structure== | ==About this Structure== | ||
1B4R is a [ | 1B4R 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=1B4R OCA]. | ||
==Reference== | ==Reference== | ||
The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease., Bycroft M, Bateman A, Clarke J, Hamill SJ, Sandford R, Thomas RL, Chothia C, EMBO J. 1999 Jan 15;18(2):297-305. PMID:[http:// | The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease., Bycroft M, Bateman A, Clarke J, Hamill SJ, Sandford R, Thomas RL, Chothia C, EMBO J. 1999 Jan 15;18(2):297-305. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/9889186 9889186] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Single protein]] | [[Category: Single protein]] | ||
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[[Category: polycystin (precursor)]] | [[Category: polycystin (precursor)]] | ||
''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 10:06:16 2008'' | ||
Revision as of 11:06, 20 March 2008
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PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1
OverviewOverview
Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the result of mutations in the PKD1 gene. The PKD1 gene codes for a large cell-surface glycoprotein, polycystin-1, of unknown function, which, based on its predicted domain structure, may be involved in protein-protein and protein-carbohydrate interactions. Approximately 30% of polycystin-1 consists of 16 copies of a novel protein module called the PKD domain. Here we show that this domain has a beta-sandwich fold. Although this fold is common to a number of cell-surface modules, the PKD domain represents a distinct protein family. The tenth PKD domain of human and Fugu polycystin-1 show extensive conservation of surface residues suggesting that this region could be a ligand-binding site. This structure will allow the likely effects of missense mutations in a large part of the PKD1 gene to be determined.
DiseaseDisease
Known disease associated with this structure: Polycystic kidney disease, adult type I OMIM:[601313]
About this StructureAbout this Structure
1B4R is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
ReferenceReference
The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease., Bycroft M, Bateman A, Clarke J, Hamill SJ, Sandford R, Thomas RL, Chothia C, EMBO J. 1999 Jan 15;18(2):297-305. PMID:9889186
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