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Vps53 Gene Detail
Summary
  • Symbol
    Vps53
  • Name
    VPS53 GARP complex subunit
  • Synonyms
    2010002A08Rik, 2310040I21Rik, 3100002B05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915549
    NCBI Gene: 68299
  • Gene Overview
    MyGene.info: VPS53
Location & Maps
more
  • Sequence Map
    Chr11:76046226-76179647 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      133422 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    VPS53, VPS53, GARP complex subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    VPS53, VPS53, GARP complex subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HCCS1, hVps53L, PCH2E, pp13624
  • Links
    NCBI Gene ID: 55275
    neXtProt AC: NX_Q5VIR6

  • Chr Location
    17p13.3; chr17:508668-714856 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human VPS53 associations

Human Disease Mouse Models
       Pontocerebellar Hypoplasia, Type 2E; PCH2E   OMIM: 615851
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 2 alleles in 3 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    4
  • Genomic Mutations
    2 involving Vps53
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E12.5 with trophoblast cell hyperplasia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006225 VEGA Gene Model | MGI Sequence Detail 133422 C57BL/6J ±  kb
transcript OTTMUST00000014053 VEGA | MGI Sequence Detail 2833 Not Applicable  
polypeptide OTTMUSP00000006529 VEGA | MGI Sequence Detail 832 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    525 from dbSNP Build 142
Protein
Information
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  • UniProt
    13 Sequences
  • Protein Ontology
    PR:000017345 vacuolar protein sorting-associated protein 53
  • InterPro Domains
    IPR007234 Vps53-like, N-terminal
Molecular
Reagents
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  • All nucleic 99
    cDNA 99

    Microarray probesets 7
Other
Accession IDs
less
MGI:1913804, MGI:1917090
References
more
  • Summaries
    All 33
    Gene Ontology 5
    Phenotypes 16
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:225569 Schindler C, et al., EARP is a multisubunit tethering complex involved in endocytic recycling. Nat Cell Biol. 2015 May;17(5):639-50

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory