Property Summary

NCBI Gene PubMed Count 15
PubMed Score 14.80
PubTator Score 7.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 1.400 0.000
psoriasis 1.600 0.000
osteosarcoma 1.062 0.001
glioblastoma 1.100 0.000
juvenile dermatomyositis 1.041 0.000
group 3 medulloblastoma 1.400 0.001
lung carcinoma 1.100 0.000
ovarian cancer 2.300 0.000

Synonym

Accession Q9P1Q0 Q5VIR5 Q86YF7 Q8N6G3 Q9NPV0 Q9NT07 Q9NUJ0
Symbols WR
HCC8
SLP-8p
VPS54L
hVps54L
PPP1R164

Gene

PANTHER Protein Class (1)

 GO Function (1)

Gene RIF (9)

PMID Text
21087364 This study suggests that VPS54 mutations are not a common cause of Amyotrophic Lateral Sclerosis in Italian population
20615984 Severely reduced levels of mutant Vps54 and, consequently, of the whole GARP complex underlie the phenotype of the wobbler mouse.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19620288 Golgi-associated retrograde protein orchestrates retrograde transport from endosomes to the trans-Golgi network by promoting vesicle tethering and assembly of SNARE complexes in consecutive, independent steps.[Golgi associated retrograde protein]
18574757 mutations in VPS54 are not a major cause of ALS (amyotrophic lateral sclerosis)
18574757 Observational study of gene-disease association. (HuGE Navigator)
18367545 Missorting of cathepsin D in GARP-depleted cells results from accumulation of recycling MPRs in a population of light, small vesicles downstream of endosomes.
15878329 Golgi associated retrograde protein complex, consisting of the Vps52, Vps53, and Vps54 proteins, shows significant conservation between various species but diversification and specialization result in important differences in human cells.
12039048 PMID:12039048 mostly pertains to mouse and rat but contains some general comments about the structure and function of Vps54 homolog in other species, including human.

AA Sequence

MASSHSSSPVPQGSSSDVFFKIEVDPSKHIRPVPSLPDVCPKEPTGDSHSLYVAPSLVTDQHRWTVYHSK      1 - 70
VNLPAALNDPRLAKRESDFFTKTWGLDFVDTEVIPSFYLPQISKEHFTVYQQEISQREKIHERCKNICPP     71 - 140
KDTFERTLLHTHDKSRTDLEQVPKIFMKPDFALDDSLTFNSVLPWSHFNTAGGKGNRDAASSKLLQEKLS    141 - 210
HYLDIVEVNIAHQISLRSEAFFHAMTSQHELQDYLRKTSQAVKMLRDKIAQIDKVMCEGSLHILRLALTR    211 - 280
NNCVKVYNKLKLMATVHQTQPTVQVLLSTSEFVGALDLIATTQEVLQQELQGIHSFRHLGSQLCELEKLI    281 - 350
DKMMIAEFSTYSHSDLNRPLEDDCQVLEEERLISLVFGLLKQRKLNFLEIYGEKMVITAKNIIKQCVINK    351 - 420
VSQTEEIDTDVVVKLADQMRMLNFPQWFDLLKDIFSKFTIFLQRVKATLNIIHSVVLSVLDKNQRTRELE    421 - 490
EISQQKNAAKDNSLDTEVAYLIHEGMFISDAFGEGELTPIAVDTTSQRNASPNSEPCSSDSVSEPECTTD    491 - 560
SSSSKEHTSSSAIPGGVDIMVSEDMKLTDSELGKLANNIQELLYSASDICHDRAVKFLMSRAKDGFLEKL    561 - 630
NSMEFITLSRLMETFILDTEQICGRKSTSLLGALQSQAIKFVNRFHEERKTKLSLLLDNERWKQADVPAE    631 - 700
FQDLVDSLSDGKIALPEKKSGATEERKPAEVLIVEGQQYAVVGTVLLLIRIILEYCQCVDNIPSVTTDML    701 - 770
TRLSDLLKYFNSRSCQLVLGAGALQVVGLKTITTKNLALSSRCLQLIVHYIPVIRAHFEARLPPKQYSML    771 - 840
RHFDHITKDYHDHIAEISAKLVAIMDSLFDKLLSKYEVKAPVPSACFRNICKQMTKMHEAIFDLLPEEQT    841 - 910
QMLFLRINASYKLHLKKQLSHLNVINDGGPQNGLVTADVAFYTGNLQALKGLKDLDLNMAEIWEQKR       911 - 977
//

Text Mined References (17)

PMID Year Title
25799061 2015 EARP is a multisubunit tethering complex involved in endocytic recycling.
25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21087364 2011 VPS54 genetic analysis in ALS Italian cohort.
20685960 2010 Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex.
20615984 2010 Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19620288 2009 Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.
18574757 2008 Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.
18367545 2008 Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.
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