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==Solution structure of harmonin N terminal domain==
==Solution structure of harmonin N terminal domain==
<StructureSection load='2kbq' size='340' side='right'caption='[[2kbq]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2kbq' size='340' side='right'caption='[[2kbq]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2kbq]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KBQ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KBQ FirstGlance]. <br>
<table><tr><td colspan='2'>[[2kbq]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KBQ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KBQ FirstGlance]. <br>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2kbr|2kbr]], [[2kbs|2kbs]]</div></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">HARMONIN ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2kbq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kbq OCA], [https://pdbe.org/2kbq PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kbq RCSB], [https://www.ebi.ac.uk/pdbsum/2kbq PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kbq ProSAT]</span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2kbq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kbq OCA], [https://pdbe.org/2kbq PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kbq RCSB], [https://www.ebi.ac.uk/pdbsum/2kbq PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kbq ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[https://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:[https://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:[https://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>
[https://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:[https://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:[https://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>  
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity).  
[https://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN] Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity).
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Pan, L]]
[[Category: Pan L]]
[[Category: Wu, L]]
[[Category: Wu L]]
[[Category: Yan, J]]
[[Category: Yan J]]
[[Category: Zhang, M]]
[[Category: Zhang M]]
[[Category: Alternative splicing]]
[[Category: Coiled coil]]
[[Category: Deafness]]
[[Category: Hearing]]
[[Category: Non-syndromic deafness]]
[[Category: Polymorphism]]
[[Category: Protein]]
[[Category: Retinitis pigmentosa]]
[[Category: Sensory transduction]]
[[Category: Structural protein]]
[[Category: Usher syndrome]]
[[Category: Vision]]
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