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Protein Coding Gene : Vps53 VPS53 GARP complex subunit
Primary Identifier  MGI:1915549 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  68299
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Involved in protein targeting to lysosome and vesicle-mediated cholesterol transport. Predicted to be located in several cellular components, including perinuclear region of cytoplasm; recycling endosome; and trans-Golgi network. Predicted to be part of EARP complex and GARP complex. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2E. Orthologous to human VPS53 (VPS53 subunit of GARP complex).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E12.5 with trophoblast cell hyperplasia. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 2310040I21 gene,
  • 2310040I21Rik,
  • RIKEN cDNA 3100002B05 gene,
  • MGI:1917090,
  • 3100002B05Rik,
  • RIKEN cDNA 2010002A08 gene,
  • MGI:1913804,
  • Vps53,
  • VPS53 GARP complex subunit,
  • 2010002A08Rik
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Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For





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