Harmonin: Difference between revisions
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<StructureSection load=' | <StructureSection load='' size='340' side='right' caption='Human harmonin N-terminal and PDZ1 domain (skyblue) complex with Usher syndrome type 1G protein (green) (PDB code [[3k1r]])' scene='77/775921/Cv/1'> | ||
== Function == | == Function == | ||
'''Harmonin''' (Harm) is a scaffold PDZ-containing protein which integrates three Usher syndrome (USH) type proteins to USH1-protein network<ref>PMID:16301216</ref>. Harm and cadherin 23 form a complex by PDZ domain interactions<ref>PMID: | '''Harmonin''' (Harm) or '''Usher syndrome protein''' is a scaffold PDZ-containing protein which integrates three Usher syndrome (USH) type proteins to USH1-protein network<ref>PMID:16301216</ref>. Harm and cadherin 23 form a complex by PDZ domain interactions<ref>PMID:12407180</ref>. | ||
== Disease == | == Disease == | ||
A defect in harmonin which is expressed in the inner ear hair cells causes USH type 1C<ref>PMID: | A defect in harmonin which is expressed in the inner ear hair cells causes USH type 1C<ref>PMID:10973247</ref>. Defects in the formation of USH-protein complex are predicted to disrupt stereocilia bundles and cause deafness in USH1 patients. | ||
== | == Structural highlights == | ||
= | <scene name='77/775921/Cv/2'>Harm R103 forms a salt bridge with D458 of Usher syndrome type 1G protein and S115 forms hydrogen bond with it</scene>. The mutation of D458V in the Usher syndrome type 1G protein causes deaf-blindness<ref>PMID:20142502</ref>. | ||
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**[[2kbq]] – hHarm N-terminal – human - NMR <br /> | **[[2kbq]] – hHarm N-terminal – human - NMR <br /> | ||
**[[2lsr]] – hHarm N-terminal + cadherin peptide - NMR <br /> | **[[2lsr]], [[2kbr]] – hHarm N-terminal + cadherin peptide - NMR <br /> | ||
*Harmonin N-terminal + PDZ1 domain residues 1-192 | *Harmonin N-terminal + PDZ1 domain residues 1-192 | ||
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**[[1x5n]] – hHarm PDZ2 domain - NMR <br /> | **[[1x5n]] – hHarm PDZ2 domain - NMR <br /> | ||
**[[7x2e]] – hHarm PDZ2 domain + cadherin peptide <br /> | |||
**[[2kbs]] – hHarm PDZ2 domain + cadherin peptide - NMR <br /> | **[[2kbs]] – hHarm PDZ2 domain + cadherin peptide - NMR <br /> | ||