InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ASPSCR1

Summary

InnateDB Gene

IDBG-72939.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ASPSCR1

Gene Name

alveolar soft part sarcoma chromosome region, candidate 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000169696

Encoded Proteins

IDBP-72941

alveolar soft part sarcoma chromosome region, candidate 1

IDBP-72943

alveolar soft part sarcoma chromosome region, candidate 1

IDBP-72945

alveolar soft part sarcoma chromosome region, candidate 1

IDBP-764916

IDBP-759471

IDBP-763209

IDBP-764177

IDBP-761015

IDBP-759164

IDBP-758605

IDBP-761988

IDBP-764066

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:81976807-82017406

Strand

Forward strand

Band

q25.3

Transcripts

ENST00000306729	ENSP00000306625
ENST00000306739	ENSP00000302176
ENST00000344865	ENSP00000344020
ENST00000582355	ENSP00000462218
ENST00000584454	ENSP00000463992
ENST00000580534	ENSP00000462329
ENST00000585274
ENST00000583503	ENSP00000464044
ENST00000578236
ENST00000581647	ENSP00000464408
ENST00000577733
ENST00000579684	ENSP00000461984
ENST00000582019	ENSP00000463708
ENST00000578361
ENST00000581608
ENST00000582404
ENST00000585140
ENST00000583744	ENSP00000461980
ENST00000583142
ENST00000581484	ENSP00000463316
ENST00000583693

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:0006886	intracellular protein transport
GO:0008150	biological_process
GO:0042593	glucose homeostasis
GO:0046324	regulation of glucose import
GO:0061024	membrane organization

Cellular Component

GO:0005575	cellular_component
GO:0005634	nucleus
GO:0005829	cytosol
GO:0009898	cytoplasmic side of plasma membrane
GO:0012505	endomembrane system
GO:0012506	vesicle membrane
GO:0019898	extrinsic component of membrane
GO:0048471	perinuclear region of cytoplasm

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000025142

View Gene Order

ENSBTAG00000004632

Not yet available

Pathways

NETPATH

REACTOME

REACT_147867

Translocation of GLUT4 to the plasma membrane pathway

REACT_11123

Membrane Trafficking pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

Q9BZE9

TrEMBL

UniProt Splice Variant

Entrez Gene

79058

UniGene

Hs.298351

RefSeq

NM_001251888 NM_024083

HUGO

HGNC:13825

OMIM

606236

CCDS

CCDS11796 CCDS58611

HPRD

06947

IMGT

EMBL

AF324219 AK057403 AK057851 AK290624 BC006152 BC018722

GenPept

AAH06152 AAH18722 AAK08959 BAB71472 BAB71595 BAF83313

RNA Seq Atlas

79058