1x5n
From Proteopedia
(Difference between revisions)
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1x5n]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1X5N OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X5N FirstGlance]. <br> | <table><tr><td colspan='2'>[[1x5n]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1X5N OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X5N FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">USH1C; AIE75 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">USH1C; AIE75 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1x5n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x5n OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1x5n RCSB], [http://www.ebi.ac.uk/pdbsum/1x5n PDBsum], [http://www.topsan.org/Proteins/RSGI/1x5n TOPSAN]</span></td></tr> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1x5n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x5n OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1x5n RCSB], [http://www.ebi.ac.uk/pdbsum/1x5n PDBsum], [http://www.topsan.org/Proteins/RSGI/1x5n TOPSAN]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:[http://omim.org/entry/276904 276904]]; also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.<ref>PMID:10973247</ref> Defects in USH1C are the cause of deafness, autosomal recessive, 18A (DFNB18A) [MIM:[http://omim.org/entry/602092 602092]]. A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:12107438</ref> | [[http://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:[http://omim.org/entry/276904 276904]]; also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.<ref>PMID:10973247</ref> Defects in USH1C are the cause of deafness, autosomal recessive, 18A (DFNB18A) [MIM:[http://omim.org/entry/602092 602092]]. A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:12107438</ref> | ||
| Line 25: | Line 25: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Hayashi, F | + | [[Category: Hayashi, F]] |
| - | [[Category: Qin, X R | + | [[Category: Qin, X R]] |
| - | [[Category: | + | [[Category: Structural genomic]] |
| - | [[Category: Yokoyama, S | + | [[Category: Yokoyama, S]] |
[[Category: Antigen ny-co-38/ny-co-37]] | [[Category: Antigen ny-co-38/ny-co-37]] | ||
[[Category: Autoimmune enteropathy-related antigen aie-75]] | [[Category: Autoimmune enteropathy-related antigen aie-75]] | ||
| Line 36: | Line 36: | ||
[[Category: Pdz domain]] | [[Category: Pdz domain]] | ||
[[Category: Pdz-73 protein]] | [[Category: Pdz-73 protein]] | ||
| - | [[Category: Riken structural genomics/proteomics initiative]] | ||
[[Category: Rsgi]] | [[Category: Rsgi]] | ||
| - | [[Category: Structural genomic]] | ||
[[Category: Structural protein]] | [[Category: Structural protein]] | ||
[[Category: Usher syndrome 1c protein]] | [[Category: Usher syndrome 1c protein]] | ||
Revision as of 13:06, 6 January 2015
Solution structure of the second PDZ domain of harmonin protein
| |||||||||||
Categories: Homo sapiens | Hayashi, F | Qin, X R | Structural genomic | Yokoyama, S | Antigen ny-co-38/ny-co-37 | Autoimmune enteropathy-related antigen aie-75 | Harmonin | National project on protein structural and functional analyse | Nppsfa | Pdz domain | Pdz-73 protein | Rsgi | Structural protein | Usher syndrome 1c protein
