3n1b: Difference between revisions
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{{STRUCTURE_3n1b| PDB=3n1b | SCENE= }} | {{STRUCTURE_3n1b| PDB=3n1b | SCENE= }} | ||
===C-terminal domain of Vps54 subunit of the GARP complex=== | ===C-terminal domain of Vps54 subunit of the GARP complex=== | ||
{{ABSTRACT_PUBMED_20615984}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/VPS54_MOUSE VPS54_MOUSE]] Note=Defects in Vps54 are the cause of wobbler phenotype (wr). Wr is autosomal recessive and is a spontaneous mutation discovered almost 50 years ago. It causes spinal muscular atrophy and defective spermiogenesis.<ref>PMID:16244655</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/VPS54_MOUSE VPS54_MOUSE]] May be involved in retrograde transport from early and late endosomes to the late Golgi. The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (By similarity). | |||
==About this Structure== | ==About this Structure== | ||
[[3n1b]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Mus_musculus Mus musculus]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3N1B OCA]. | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID: | <ref group="xtra">PMID:020615984</ref><references group="xtra"/><references/> | ||
[[Category: Mus musculus]] | [[Category: Mus musculus]] | ||
[[Category: Abascal-Palacios, G.]] | [[Category: Abascal-Palacios, G.]] | ||
| Line 38: | Line 28: | ||
[[Category: Transport protein]] | [[Category: Transport protein]] | ||
[[Category: Vesicle trafficking]] | [[Category: Vesicle trafficking]] | ||