3n1b
From Proteopedia
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{{STRUCTURE_3n1b| PDB=3n1b | SCENE= }} | {{STRUCTURE_3n1b| PDB=3n1b | SCENE= }} | ||
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===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). | |
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==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.]] | ||
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[[Category: Transport protein]] | [[Category: Transport protein]] | ||
[[Category: Vesicle trafficking]] | [[Category: Vesicle trafficking]] | ||
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| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Aug 18 11:12:31 2010'' | ||
Revision as of 21:14, 17 April 2013
Contents |
C-terminal domain of Vps54 subunit of the GARP complex
Template:ABSTRACT PUBMED 20615984
Disease
[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.[1]
Function
[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
3n1b is a 2 chain structure with sequence from Mus musculus. Full crystallographic information is available from OCA.
Reference
- Perez-Victoria FJ, Abascal-Palacios G, Tascon I, Kajava A, Magadan JG, Pioro EP, Bonifacino JS, Hierro A. Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex. Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):12860-5. Epub 2010 Jul 6. PMID:20615984
- ↑ Schmitt-John T, Drepper C, Mussmann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, Jockusch H. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat Genet. 2005 Nov;37(11):1213-5. Epub 2005 Oct 23. PMID:16244655 doi:10.1038/ng1661
