InnateDB Protein
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IDBP-153184.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Vps54
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Protein Name
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vacuolar protein sorting 54 (yeast)
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000006221
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InnateDB Gene
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IDBG-153182 (Vps54)
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Protein Structure
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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}.
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Subcellular Localization |
Golgi apparatus, trans-Golgi network {ECO:0000250}.
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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}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:2178798
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InterPro |
IPR012501
Vps54-like
IPR019515
Vacuolar protein sorting-associated protein 54
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PFAM |
PF07928
PF10475
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q5SPW0
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PhosphoSite |
PhosphoSite-Q5SPW0
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TrEMBL |
Q3UVJ8
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UniProt Splice Variant |
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Entrez Gene |
245944
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UniGene |
Mm.404035
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RefSeq |
NP_620692
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MGI ID |
3N1E
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MGI Symbol |
Vps54
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OMIM |
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CCDS |
CCDS24463
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HPRD |
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IMGT |
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EMBL |
AB052761
AK077306
AK137211
AL669979
AL833772
BC023474
BC024789
BC025012
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GenPept |
AAH23474
AAH24789
AAH25012
BAC36741
BAC53794
BAE23271
CAI24173
CAI24174
CAI26092
CAI26093
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