2d10: Difference between revisions
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{{STRUCTURE_2d10| PDB=2d10 | SCENE= }} | {{STRUCTURE_2d10| PDB=2d10 | SCENE= }} | ||
===Crystal structure of the Radixin FERM domain complexed with the NHERF-1 C-terminal tail peptide=== | |||
{{ABSTRACT_PUBMED_16615918}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/NHERF_HUMAN NHERF_HUMAN]] Defects in SLC9A3R1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:[http://omim.org/entry/612287 612287]]. Hypophosphatemia results from idiopathic renal phosphate loss. It contributes to the pathogenesis of hypophosphatemic urolithiasis (formation of urinary calculi) as well to that of hypophosphatemic osteoporosis (bone demineralization).<ref>PMID:18784102</ref><ref>PMID:22506049</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/RADI_MOUSE RADI_MOUSE]] Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane. [[http://www.uniprot.org/uniprot/NHERF_HUMAN NHERF_HUMAN]] Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules.<ref>PMID:9430655</ref><ref>PMID:9096337</ref><ref>PMID:10499588</ref><ref>PMID:18784102</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016615918</ref><ref group="xtra">PMID:012499563</ref><ref group="xtra">PMID:010970839</ref><ref group="xtra">PMID:012554651</ref><references group="xtra"/> | <ref group="xtra">PMID:016615918</ref><ref group="xtra">PMID:012499563</ref><ref group="xtra">PMID:010970839</ref><ref group="xtra">PMID:012554651</ref><references group="xtra"/><references/> | ||
[[Category: Mus musculus]] | [[Category: Mus musculus]] | ||
[[Category: Hakoshima, T.]] | [[Category: Hakoshima, T.]] | ||