1s1n
From Proteopedia
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| - | [[Image:1s1n.gif|left|200px]] | + | [[Image:1s1n.gif|left|200px]] |
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| - | '''SH3 domain of human nephrocystin''' | + | {{Structure |
| + | |PDB= 1s1n |SIZE=350|CAPTION= <scene name='initialview01'>1s1n</scene> | ||
| + | |SITE= | ||
| + | |LIGAND= | ||
| + | |ACTIVITY= | ||
| + | |GENE= NPHP1, NPH1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | ||
| + | }} | ||
| + | |||
| + | '''SH3 domain of human nephrocystin''' | ||
| + | |||
==Overview== | ==Overview== | ||
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==About this Structure== | ==About this Structure== | ||
| - | 1S1N is a [ | + | 1S1N 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=1S1N OCA]. |
==Reference== | ==Reference== | ||
| - | Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis., le Maire A, Weber T, Saunier S, Broutin I, Antignac C, Ducruix A, Dardel F, Proteins. 2005 May 1;59(2):347-55. PMID:[http:// | + | Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis., le Maire A, Weber T, Saunier S, Broutin I, Antignac C, Ducruix A, Dardel F, Proteins. 2005 May 1;59(2):347-55. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/15723349 15723349] |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Single protein]] | [[Category: Single protein]] | ||
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[[Category: beta barrel]] | [[Category: beta barrel]] | ||
| - | ''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 13:59:12 2008'' |
Revision as of 11:59, 20 March 2008
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| Gene: | NPHP1, NPH1 (Homo sapiens) | ||||||
| Coordinates: | save as pdb, mmCIF, xml | ||||||
SH3 domain of human nephrocystin
Contents |
Overview
Human nephrocystin is a protein associated with juvenile NPH, an autosomal recessive, inherited kidney disease responsible for chronic renal failure in children. It contains an SH3 domain involved in signaling pathways controlling cell adhesion and cytoskeleton organization. The solution structure of this domain was solved by triple resonance NMR spectroscopy. Within the core, the structure is similar to those previously reported for other SH3 domains but exhibits a number of specific noncanonical features within the polyproline ligand binding site. Some of the key conserved residues are missing, and the N-Src loop exhibits an unusual twisted geometry, which results in a narrowing of the binding groove. This is induced by the replacement of a conserved Asp, Asn, or Glu residue by a Pro at one side of the N-Src loop. A systematic survey of other SH3 domains also containing a Pro at this position reveals that most of them belong to proteins involved in cell adhesion or motility. A variant of this domain, which carries a point mutation causing NPH, was also analyzed. This change, L180P, although it corresponds to a nonconserved and solvent-exposed position, causes a complete loss of the tertiary structure. Similar effects are also observed with the L180A variant. This could be a context-dependent effect resulting from an interaction between neighboring charged side-chains.
Disease
Known diseases associated with this structure: Joubert syndrome 4 OMIM:[607100], Nephronophthisis, juvenile OMIM:[607100], Senior-Loken syndrome-1 OMIM:[607100]
About this Structure
1S1N is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis., le Maire A, Weber T, Saunier S, Broutin I, Antignac C, Ducruix A, Dardel F, Proteins. 2005 May 1;59(2):347-55. PMID:15723349
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