InnateDB Protein
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IDBP-763209.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ASPSCR1
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Protein Name
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000462329
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InnateDB Gene
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IDBG-72939 (ASPSCR1)
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Protein Structure
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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}.
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Subcellular Localization |
Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm {ECO:0000269PubMed:23349634}. Nucleus {ECO:0000269PubMed:23349634}.
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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).
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Tissue Specificity |
Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas. {ECO:0000269PubMed:11244503, ECO:0000269PubMed:11358836}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
19
[view]
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Protein-Protein |
19
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001012
UBX domain
IPR029071
Ubiquitin-related domain
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PFAM |
PF00789
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PRINTS |
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PIRSF |
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SMART |
SM00166
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BZE9
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PhosphoSite |
PhosphoSite-Q9BZE9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79058
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UniGene |
Hs.298351
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RefSeq |
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HUGO |
HGNC:13825
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OMIM |
606236
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CCDS |
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HPRD |
06947
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IMGT |
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EMBL |
AF324219
AK057403
AK057851
AK290624
BC006152
BC018722
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GenPept |
AAH06152
AAH18722
AAK08959
BAB71472
BAB71595
BAF83313
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