Version 5.4
Homo sapiens Protein: ASPSCR1
Summary
InnateDB Protein IDBP-72943.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASPSCR1
Protein Name alveolar soft part sarcoma chromosome region, candidate 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000302176
InnateDB Gene IDBG-72939 (ASPSCR1)
Protein Structure
UniProt Annotation
Function Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. {ECO:0000250, ECO:0000269PubMed:23349634}.
Subcellular Localization Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm {ECO:0000269PubMed:23349634}. Nucleus {ECO:0000269PubMed:23349634}.
Disease Associations Note=A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein.Note=A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).
Tissue Specificity Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas. {ECO:0000269PubMed:11244503, ECO:0000269PubMed:11358836}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
GO:0061024 membrane organization
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0012505 endomembrane system
Protein Structure and Domains
PDB ID
InterPro IPR001012 UBX domain
IPR021569 UBX domain containing protein TUG/UBX4
IPR029071 Ubiquitin-related domain
PFAM PF00789
PF11470
PRINTS
PIRSF
SMART SM00166
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BZE9
PhosphoSite PhosphoSite-Q9BZE9
TrEMBL J3KRY8
UniProt Splice Variant
Entrez Gene 79058
UniGene Hs.298351
RefSeq NP_076988
HUGO HGNC:13825
OMIM 606236
CCDS CCDS11796
HPRD 06947
IMGT
EMBL AC137723 AC145207 AF324219 AK057403 AK057851 AK290624 BC006152 BC018722
GenPept AAH06152 AAH18722 AAK08959 BAB71472 BAB71595 BAF83313

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca