ASPSCR1

Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene.^[5][6][7]

ASPSCR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AL3
Identifiers
Aliases	ASPSCR1, ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9, alveolar soft part sarcoma chromosome region, candidate 1, UBX domain containing tether for SLC2A4, ASPSCR1 tether for SLC2A4, UBX domain containing
External IDs	OMIM: 606236; MGI: 1916188; HomoloGene: 41550; GeneCards: ASPSCR1; OMA:ASPSCR1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 81,976,807 bp[1] End 82,017,406 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 120,563,799 bp[2] End 120,600,273 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver apex of heart anterior pituitary right hemisphere of cerebellum muscle of thigh right lobe of thyroid gland left lobe of thyroid gland gastrocnemius muscle right testis gonad Top expressed in spermatid spermatocyte granulocyte right kidney seminiferous tubule lip yolk sac duodenum muscle of thigh left lobe of liver More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component extrinsic component of membrane cytoplasm perinuclear region of cytoplasm membrane cytosol cytoplasmic side of plasma membrane plasma membrane endoplasmic reticulum-Golgi intermediate compartment membrane intracellular membrane-bounded organelle endomembrane system nucleus nucleoplasm vesicle membrane Biological process intracellular protein transport glucose homeostasis regulation of glucose import positive regulation of protein modification process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79058 68938 Ensembl ENSG00000169696 ENSMUSG00000025142 UniProt Q9BZE9 Q8VBT9 RefSeq (mRNA) NM_001251888 NM_024083 NM_001330528 NM_001164224 NM_026877 NM_198223 NM_001363055 NM_001363056 RefSeq (protein) NP_001238817 NP_001317457 NP_076988 NP_001157696 NP_081153 NP_937866 NP_001349984 NP_001349985 Location (UCSC) Chr 17: 81.98 – 82.02 Mb Chr 11: 120.56 – 120.6 Mb PubMed search [3] [4]
Wikidata
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This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that ASPSCR1 can undergo oncogenic rearrangement with transcription factor TFE3 gene, creating an aberrant gene that is a stronger transcriptional activator than TFE3 alone.^[8] This fusion oncogene encodes for a chimeric transcription factor, which is responsible for the production of multiple molecules that contribute to ASPS and also to renal cell carcinomas.^[9] Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.^[7]