VPS54 (VPS54 subunit of GARP complex)

2003-06-01  

Identity

HGNC
LOCATION
2p15
LOCUSID
ALIAS
HCC8,PPP1R164,SLP-8p,VPS54L,WR,hVps54L
FUSION GENES

Other Information

Locus ID:

NCBI: 51542
MIM: 614633
HGNC: 18652
Ensembl: ENSG00000143952

Variants:

dbSNP: 51542
ClinVar: 51542
TCGA: ENSG00000143952
COSMIC: VPS54

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143952ENST00000272322Q9P1Q0
ENSG00000143952ENST00000354504Q9P1Q0
ENSG00000143952ENST00000409558Q9P1Q0
ENSG00000143952ENST00000416400A0A0A0MT48

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440

References

Pubmed IDYearTitleCitations
183675452008Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
196202882009Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.53
158783292005Characterization of the human GARP (Golgi associated retrograde protein) complex.45
206159842010Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex.31
185747572008Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.11
185747572008Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.11
120390482002Identification, characterization and cytogenetic mapping of a yeast Vps54 homolog in rat and mouse.1
210873642011VPS54 genetic analysis in ALS Italian cohort.0

Citation

Dessen P

VPS54 (VPS54 subunit of GARP complex)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42798/vps54