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FLASH GENE
Symbol UVRAG contributors: mct/npt - updated : 30-05-2015
HGNC name UV radiation resistance associated gene
HGNC id 12640
Corresponding disease
HTX11 abnormal left-right axis with visceral heterotaxy, 11
Location 11q13.5      Physical location : 75.526.211 - 75.855.281
Synonym name disrupted in heterotaxy
Synonym symbol(s) DHTXA, UVRG, DHTX, p63
DNA
TYPE functioning gene
STRUCTURE 329.07 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - FGF3 - D11S2255E - D11S916 - D11S534 - SERPINH1 - D11S352 - UVRAG - D11S527 - LRRC32 - D11S533 - PAK1 - OMP - MYO7A - CLNS1A - D11S911 ,D11S906 - qter
Authors Perelman (97),Bekri (98)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 5166 78.1 699 - Liang (2007)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas   highly
Lymphoid/Immunethymus   highly
Nervousbrain   highly
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective    
Lymphoid    
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text presomite stage embryo, fetal eye
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one coiled coil domain
  • one C2 domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text perhaps forming part of the cytoskeleton
    basic FUNCTION
  • implicated in mediating protein-protein interactions
  • player to the emerging picture of the autophagy network, under-scoring the importance of the coordinated activity between BCL2 and UVRAG in the regulation of Beclin 1-PI3KC3-mediated autophagy and tumor cell control
  • regulator of autophagosome formation, also promoting autophagosome maturation by recruiting the fusion machinery of the late endosome
  • phosphatidylinositol 3-kinase class III sub-complex containing PIK3R4, PIK3C3, BECN1, UVRAG and SH3GLB1 regulates cytokinesis and degradative endocytic traffic
  • activates PI3KC3 and C-VPS/HOPS, a guanine nucleotide exchange factor that catalyzes the exchange of GDP for GTP on RAB7A
  • is a tumor suppressor involved in autophagy, and plays an integral role in UV-induced DNA damage repair
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • essential component of the Beclin1-PI(3)KC3 lipid kinase complex that is an important signalling checkpoint for autophagy and tumour-cell growth
  • SCOC forms a starvation-sensitive trimeric complex with UVRAG (UV radiation resistance associated gene) and FEZ1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RAB7A, and RUBICON (GTP-bound RAB7A competes with UVRAG for RUBICON binding)
  • BECN1 coiled coil domain (CCD) serves as an interaction platform for assembly of distinct ATG14- and UVRAG-containing complexes to modulate PIK3C3 activity
  • SLAMF1 interacts with the class III PIK3C3 in a complex with BECN1 and UVRAG
  • UVRAG is a regulator of CRL4(DDB2)-mediated NER, suggesting that its expression levels may influence melanoma predisposition
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTX11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS