help  | about  | cite  | software

Gene : ASPSCR1 Homo sapiens

Name  ? ASPSCR1 tether for SLC2A4, UBX domain containing Cytological Location  17q25.3
Brief Description  ASPSCR1 tether for SLC2A4, UBX domain containing
Description  The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
  • synonyms:
  • ASPL,
  • ASPSCR1,
  • ASPS,
  • UBXN9,
  • NM_024083,
  • UBXD9,
  • ASPSCR1, UBX domain containing tether for SLC2A4,
  • alveolar soft part sarcoma chromosome region, candidate 1,
  • ASPCR1,
  • UBXN9,
  • TUG,
  • AF324219,
  • OTTHUMG00000178438,
  • UBXD9,
  • HGNC:13825,
  • Tether containing UBX domain for GLUT4,
  • TUG,
  • ASPL,
  • uc002kcx.3,
  • ASPS,
  • RCC17,
  • UBX domain protein 9
  • identifiers:
  • 79058,
  • ENSG00000169696,
  • ASPSCR1

Genome feature

Region: gene ? Length: 40120  
Location: 17:81977550-82017669 Cyto location: 17q25.3


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

860 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results