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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VPS54
VPS54 subunit of GARP complex
Chromosome 2 · 2p15-p14
NCBI Gene: 51542Ensembl: ENSG00000143952.21HGNC: HGNC:18652UniProt: Q9P1Q0
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
retrograde transport, endosome to Golgiprotein bindinglysosomal transportGolgi apparatusneurodegenerative diseaseovarian neoplasmgestational diabetesdyshidrosis
✦AI Summary

VPS54 encodes a critical subunit of the Golgi-associated retrograde protein (GARP) complex that mediates vesicle tethering and retrograde transport from endosomes to the trans-Golgi network (TGN) 1. The protein functions as a vesicle-tethering factor that is essential for proper intracellular protein sorting and maintaining cycling of mannose 6-phosphate receptors between the TGN and endosomes 2. VPS54 contains coiled-coil regions and multiple dileucine motifs, and is ubiquitously expressed across species 3. Loss of VPS54 function severely impairs retrograde transport of cholera toxin B subunit to the TGN and causes mis-sorting of mannose-6-phosphate receptors and their cargo proteins 2. The GARP complex is also required for efficient post-Golgi anterograde transport of cell-surface proteins 4. Disease relevance is established through the wobbler mouse model, where a destabilizing point mutation in Vps54 causes motor neuron degeneration resembling amyotrophic lateral sclerosis (ALS) 1. Complete loss of VPS54 function results in embryonic lethality with extensive neural tube membrane blebbing 2. However, screening of human ALS patients revealed that VPS54 mutations are not a major cause of sporadic or familial ALS 5, suggesting species-specific differences in disease susceptibility.

Sources cited
1
VPS54 is a GARP complex component involved in retrograde transport and wobbler mouse motor neuron disease model
PMID: 26539077
2
VPS54 loss causes impaired retrograde transport, protein mis-sorting, and embryonic lethality
PMID: 23708095
3
VPS54 contains coiled-coil regions and dileucine motifs and is ubiquitously expressed
PMID: 12039048
4
GARP complex is required for efficient post-Golgi anterograde transport
PMID: 26157166
5
VPS54 mutations are not a major cause of human ALS
PMID: 18574757
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
ovarian neoplasmOpen Targets
0.33Weak
gestational diabetesOpen Targets
0.32Weak
dyshidrosisOpen Targets
0.32Weak
insomniaOpen Targets
0.27Weak
color vision disorderOpen Targets
0.26Weak
response to antihypertensive drugOpen Targets
0.25Weak
tooth agenesisOpen Targets
0.11Weak
gastrointestinal diseaseOpen Targets
0.11Weak
vein disorderOpen Targets
0.09Suggestive
lymphatic system diseaseOpen Targets
0.09Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
Charcot-Marie-Tooth disease axonal type 2ZOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 2B1Open Targets
0.03Suggestive
amyotrophic lateral sclerosis type 2, juvenileOpen Targets
0.03Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
juvenile amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
Charcot-Marie-Tooth disease type 1FOpen Targets
0.03Suggestive
Proximal spinal muscular atrophy type 4Open Targets
0.03Suggestive
spinal muscular atrophy, type IVOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VTI1AProtein interaction100%VPS50Protein interaction97%EIPR1Protein interaction93%GOLGA1Protein interaction88%RAB6AProtein interaction88%VAMP4Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
81%
Lung
68%
Liver
67%
Heart
62%
Brain
31%
Gene Interaction Network
Click a node to explore
VPS54VTI1AVPS50EIPR1GOLGA1RAB6AVAMP4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P1Q0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.35 [0.26–0.47]
RankingsWhere VPS54 stands among ~20K protein-coding genes
  • #10,261of 20,598
    Most Researched40
  • #2,647of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedVPS54
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
VPS54 and the wobbler mouse.
PMID: 26539077
Front Neurosci · 2015
1.00
2
Generation and Analysis of hTERT-RPE1 VPS54 Knock-Out and Rescued Cell Lines.
PMID: 36512226
Methods Mol Biol · 2023
0.90
3
Identification, characterization and cytogenetic mapping of a yeast Vps54 homolog in rat and mouse.
PMID: 12039048
Gene · 2002
0.80
4
Vps54 regulates
PMID: 32747448
Biol Open · 2020
0.70
5
Vps54 Regulates Lifespan and Locomotor Behavior in Adult
PMID: 34712272
Front Genet · 2021
0.60