2jun: Difference between revisions
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{{STRUCTURE_2jun| PDB=2jun | SCENE= }} | {{STRUCTURE_2jun| PDB=2jun | SCENE= }} | ||
===Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular RING heterodimers=== | |||
{{ABSTRACT_PUBMED_18220417}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TRI18_HUMAN TRI18_HUMAN]] Defects in MID1 are the cause of Opitz GBBB syndrome 1 (OGS1) [MIM:[http://omim.org/entry/300000 300000]]. A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate-laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. Note=MID1 mutations produce proteins with a decreased affinity for microtubules.<ref>PMID:9354791</ref><ref>PMID:11030761</ref><ref>PMID:9718340</ref><ref>PMID:15558842</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TRI18_HUMAN TRI18_HUMAN]] Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.<ref>PMID:10400985</ref><ref>PMID:11685209</ref><ref>PMID:22613722</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018220417</ref><references group="xtra"/> | <ref group="xtra">PMID:018220417</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Cox, T C.]] | [[Category: Cox, T C.]] | ||
