VPS54 (VPS54 subunit of GARP complex)

2003-06-01  

Identity

HGNC
VPS54
LOCATION
2p15
LOCUSID
51542
ALIAS
HCC8,PPP1R164,SLP-8p,VPS54L,WR,hVps54L
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
210873642011VPS54 genetic analysis in ALS Italian cohort.1
210873642011VPS54 genetic analysis in ALS Italian cohort.1
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206159842010Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex.39
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206159842010Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex.39
196202882009Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.71
196202882009Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.71
183675452008Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.77
185747572008Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.13
185747572008Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.13
183675452008Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.77
185747572008Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.13
185747572008Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.13
158783292005Characterization of the human GARP (Golgi associated retrograde protein) complex.55

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