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Vps54 Gene Detail
Summary
  • Symbol
    Vps54
  • Name
    VPS54 GARP complex subunit
  • Synonyms
    5330404P15Rik, mSLP8, Vps54l, wr
  • Feature Type
    protein coding gene
  • IDs
    MGI:2178798
    NCBI Gene: 245944
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr11:21239281-21321136 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      81856 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 13.89 cM, cytoband A3
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    VPS54, VPS54, GARP complex subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    VPS54, VPS54, GARP complex subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HCC8, hVps54L, PPP1R164, SLP-8p, VPS54L, WR
  • Links
    NCBI Gene ID: 51542
    neXtProt AC: NX_Q9P1Q0
    UniProt: Q9P1Q0

  • Chr Location
    2p15-p14; chr2:63892149-64019421 (-)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 5605
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: VPS54
  • Gene Tree
    Vps54
Human Diseases
more
  • Diseases
    2 with Vps54 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 2 alleles in 3 genetic backgrounds
    117 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    17
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
    102
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005242 VEGA Gene Model | MGI Sequence Detail 81856 C57BL/6J ±  kb
transcript OTTMUST00000011688 VEGA | MGI Sequence Detail 4323 Not Applicable  
polypeptide OTTMUSP00000005421 VEGA | MGI Sequence Detail 977 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    258 from dbSNP Build 142
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000017346 vacuolar protein sorting-associated protein 54
    (term hierarchy)
  • PDB
    3N1B, 3N1E
  • InterPro Domains
    IPR019515 Vacuolar protein sorting-associated protein 54, N-terminal
    IPR012501 Vps54-likeVacuolar protein sorting-associated protein 54, C-terminal
Molecular
Reagents
less
  • All nucleic 106
    Genomic 1
    cDNA 105

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-15459, MGI:2443077, MGI:98964
References
more
  • Summaries
    All 157
    Diseases 3
    Gene Ontology 7
    Phenotypes 117
  • Earliest
    J:5102 Duchen LW, et al., An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'. J Neurol Neurosurg Psychiatry. 1968 Dec;31(6):535-42
  • Latest
    J:254706 Wei J, et al., The GARP Complex Is Involved in Intracellular Cholesterol Transport via Targeting NPC2 to Lysosomes. Cell Rep. 2017 Jun 27;19(13):2823-2835
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/03/2018
MGI 6.11 		The Jackson Laboratory