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FLASH GENE
Symbol ASPSCR1 contributors: - updated : 15-11-2003
HGNC name alveolar soft part sarcoma chromosome region, candidate 1
HGNC id 13825
Corresponding disease
ASPS alveolar soft-part sarcoma
Location 17q25      Physical location : 79.935.425 - 79.975.280
Synonym name
  • renal cell carcinoma gene on chromosome 17
  • tether containing an UBX domain
  • Synonym symbol(s) ASPL, RCC17, ASPCR1, ASPS, TUG
    DNA
    TYPE functioning gene
    STRUCTURE 22.00 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC388432 17 similar to dysferlin-interacting protein 1 P4HB 17q25.2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55) ARHGDIA 17q25.3 Rho GDP dissociation inhibitor (GDI) alpha THOC4 17q25.3 THO complex 4 ANAPC11 17q25.3 APC11 anaphase promoting complex subunit 11 homolog (yeast) NPB 17q25.3 preproneuropeptide B LOC388433 17 LOC388433 PCYT2 17q25.3 phosphate cytidylyltransferase 2, ethanolamine SIRT7 17q25 sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) MGC13090 17q25.3 hypothetical protein MGC13090 MAFG 17q25 v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) LOC92659 17q25.3 hypothetical protein BC009233 PYCR1 17q25.3 pyrroline-5-carboxylate reductase 1 LOC255275 17q25.3 similar to myeloid-associated differentiation marker LOC147111 17q25.3 hypothetical protein LOC147111 ASPSCR1 17q25 alveolar soft part sarcoma chromosome region, candidate 1 STRA13 17q25.3 stimulated by retinoic acid 13 MGC20806 17q25.3 hypothetical protein MGC20806 RAC3 10q25.3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) DCXR 17q25.3 dicarbonyl/L-xylulose reductase GPS1 17q25.3 G protein pathway suppressor 1 PP3111 17q25.3 PP3111 protein FASN 17q25 fatty acid synthase FLJ23754 17q25.3 hypothetical protein FLJ23754 LOC284001 17q25.3 hypothetical protein LOC284001
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Endocrinepancreas    
    Nervousbrain   highly
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cell lineage
    cell lines cancer cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    C terminal UBX-like domain
    HOMOLOGY
    interspecies homolog to murine Tug
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION may be playing an important role in controling organism-level glucose homeostatsis (by regulation of SLC2A4 glucose transporter )
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component complex ASPCR1/SLC2A4 in adipocytes
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASPS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    ASPL-TFE3 gene fusion associated with an acquired t(X,17) in a subset of RCC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS