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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]
ASPSCR1 (ASPSCR1 Tether For SLC2A4, UBX Domain Containing) is a Protein Coding gene. Diseases associated with ASPSCR1 include Alveolar Soft Part Sarcoma and Renal Cell Carcinoma, Xp11-Associated. Among its related pathways are Vesicle-mediated transport and Translocation of GLUT4 to the plasma membrane. An important paralog of this gene is UBXN6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 18775313 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Glucose / Energy Metabolism | ||
3 | Transcriptional misregulation in cancer | ||
4 | Translocation of GLUT4 to the plasma membrane |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | IEA | -- |
GO:0031401 | positive regulation of protein modification process | IMP | 23349634 |
GO:0042593 | glucose homeostasis | IEA | -- |
GO:0046324 | regulation of glucose import | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | · | 10f | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||
SP2: | - | - | |||||||||
SP3: | |||||||||||
SP4: | - | ||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: | |||||||||||
SP9: | |||||||||||
SP10: | |||||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASPSCR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Aspscr1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASPSCR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASPSCR1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aspscr1 30 |
|
||
Chicken (Gallus gallus) |
Aves | ASPSCR1 30 |
|
||
gga-mir-6599 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | ASPSCR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aspscr1 30 |
|
||
Str.1031 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16681 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aspscr1 30 31 31 |
|
OneToMany | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.14193 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG33722 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | B0024.10 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
CSA.1140 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs13087 | - |
p.Asp487Glu |
|||
rs34085048 | - |
p.Val318Met |
|||
rs8074498 | - |
p.Leu252Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5800n54 | CNV | loss | 21841781 |
esv1006218 | CNV | insertion | 20482838 |
esv21913 | CNV | gain+loss | 19812545 |
esv3641410 | CNV | loss | 21293372 |
esv3641412 | CNV | loss | 21293372 |
esv3641413 | CNV | gain | 21293372 |
nsv428351 | CNV | gain | 18775914 |
nsv457975 | CNV | loss | 19166990 |
nsv470620 | CNV | loss | 18288195 |
nsv576183 | CNV | loss | 21841781 |
nsv833569 | CNV | loss | 17160897 |
nsv833571 | CNV | loss | 17160897 |
nsv952392 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alveolar soft part sarcoma |
|
|
renal cell carcinoma, xp11-associated |
|
|
sarcoma |
|
|
childhood kidney cell carcinoma |
|
|
skeletal muscle cancer |
|
|