InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Vps54

Summary

InnateDB Protein

IDBP-262095.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Vps54

Protein Name

vacuolar protein sorting 54 (yeast)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000105206

InnateDB Gene

IDBG-153182 (Vps54)

Protein Structure

UniProt Annotation

Function

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). {ECO:0000250}.

Subcellular Localization

Golgi apparatus, trans-Golgi network {ECO:0000250}.

Disease Associations

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. {ECO:0000269PubMed:16244655}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0015031	protein transport
GO:0040007	growth
GO:0042147	retrograde transport, endosome to Golgi
GO:0048873	homeostasis of number of cells within a tissue
GO:0050881	musculoskeletal movement
GO:0060052	neurofilament cytoskeleton organization