• Gene id: 79058

Gene Summary

• Gene Symbol: ASPSCR1   Gene   UCSC   Ensembl
• Aliases: ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9
• Gene name: ASPSCR1 tether for SLC2A4, UBX domain containing
• Alternate names: tether containing UBX domain for GLUT4, ASPSCR1, UBX domain containing tether for SLC2A4, UBX domain protein 9, UBX domain-containing protein 9, alveolar soft part sarcoma chromosomal region candidate gene 1 protein, alveolar soft part sarcoma chromosome regio,
• Gene location: 17q25.3 (81977549: 82017668)     Exons: 19     NC_000017.11
• Gene summary(Entrez): 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 redistribut

Protein Summary

• Protein general information: Q9BZE9  
  • Name: Tether containing UBX domain for GLUT4 (Alveolar soft part sarcoma chromosomal region candidate gene 1 protein) (Alveolar soft part sarcoma locus) (Renal papillary cell carcinoma protein 17) (UBX domain containing protein 9)
  • Length: 553  
  • Mass: 60183
  • Tissue specificity: Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas. {ECO
• Sequence:

  MAAPAGGGGSAVSVLAPNGRRHTVKVTPSTVLLQVLEDTCRRQDFNPCEYDLKFQRSVLDLSLQWRFANLPNNAK
  LEMVPASRSREGPENMVRIALQLDDGSRLQDSFCSGQTLWELLSHFPQIRECLQHPGGATPVCVYTRDEVTGEAA
  LRGTTLQSLGLTGGSATIRFVMKCYDPVGKTPGSLGSSASAGQAAASAPLPLESGELSRGDLSRPEDADTSGPCC
  EHTQEKQSTRAPAAAPFVPFSGGGQRLGGPPGPTRPLTSSSAKLPKSLSSPGGPSKPKKSKSGQDPQQEQEQERE
  RDPQQEQERERPVDREPVDREPVVCHPDLEERLQAWPAELPDEFFELTVDDVRRRLAQLKSERKRLEEAPLVTKA
  FREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFVRSHLGNPELSFYLFITPPKTVLDDHTQTLF
  QANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPAPDPAPKSEPAAEEGALVPP
  EPIPGTAQPVKRSLGKVPKWLKLPASKR

• Structural information:
  • Protein Domains: (386..46-)
    (/note="UBX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00215"-)
  • Interpro: IPR021569  IPR029071  IPR001012  
  • Prosite: PS50033
  • PDB: 5IFS 5IFW
  • PDBsum: 5IFS 5IFW
  • STRING: ENSP00000306625
• Other Databases: GeneCards:  ASPSCR1  Malacards:  ASPSCR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0012506	vesicle membrane	IEA	cellular component
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0042593	glucose homeostasis	IEA	biological process
GO:0046324	regulation of glucose import	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0031401	positive regulation of protein modification process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq