3n1b

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Template:STRUCTURE 3n1b

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
  1. ↑ 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

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