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FLASH GENE
Symbol TOPORS contributors: mct - updated : 15-03-2011
HGNC name topoisomerase I binding, arginine/serine-rich
HGNC id 21653
Corresponding disease
RP31 retinitis pigmentosa 31
Location 9p21.1      Physical location : 32.540.542 - 32.552.622
Synonym name
  • topoisomerase I binding protein
  • ring finger protein
  • E3 ubiquitin-protein ligase Topors
  • tumor suppressor p53-binding protein 3
  • Synonym symbol(s) TP53BPL, LUN, RP31, P53BP3, TP53BPL
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 12.08 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392300 9 similar to High mobility group protein 4-like (HMG-4L) LOC392301 9 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2) ACO1 9p22-p13 aconitase 1, soluble RIG-I 9p12 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide TOPORS 9p21 topoisomerase I binding, arginine/serine-rich NDUFB6 9p13.2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa TAF1L 9p13.3 TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa LOC389710 9 similar to hypothetical protein (L1H 3 region) - human LOC392302 9 similar to argininosuccinate synthetase APTX 9p13.3 aprataxin DNAJA1 9p13-p12 DnaJ (Hsp40) homolog, subfamily A, member 1 SMU-1 9p12 homolog of C. elegans smu-1 B4GALT1 9p13 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 SPINK4 9p12 serine protease inhibitor, Kazal type 4 BAG1 9p12 BCL2-associated athanogene HSPC177 NFX1 9p12 nuclear transcription factor, X-box binding 1 AQP7 9p13 aquaporin 7 AQP3 9p13 aquaporin 3 NOL6 9p13.2 nucleolar protein family 6 (RNA-associated) bA255A11.3 9p12 FLJ35740 pseudogene LOC389711 9 similar to hypothetical protein DKFZp434F1719
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 4184 119 1045 - 2001 11278651
    - - 3988 - 980 - 2001 11278651
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveliver   moderately
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain   moderately
    Respiratorylung   highly
    Visualeyeretina  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial cell
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal RING-type zinc-finger domain (amino acids 103
  • 141)
  • five stretches enriched in proline, glutamic acid, serine, and threonine (PEST) residues
  • a bipartite nuclear localization signal
  • a region rich in Arg-Ser
  • coiled-coil structure and leucine zipper
  • two putative SUMO-1 conjugation sites
  • HOMOLOGY
    interspecies homolog to murine Topors (87.4pc)
    Homologene
    FAMILY
  • ring finger protein family
  • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • cilia-centrosomal protein
  • basic FUNCTION
  • trans-acting transcriptional regulator of E-cadherin and talin gene in the alveolar epithelial cell during lung development, differentiation, tumorigenesis
  • E3 ubiquitin ligase with specific E2 enzymes, and it can ubiquitinate TP53
  • can function as both an ubiquitin and SUMO-1 E3 ligase for TP53
  • enhancing the formation of high molecular weight SUMO-1 conjugates of TOP1
  • potential binary switch function for TOPORS in protein ubiquitination versus sumoylation
  • ubiquitin and small ubiquitin-like modifier ubiquitin-protein isopeptide ligase (SUMO E3) ligase
  • involved in normal mitotic progression, since its depletion delays mitotic entry and affects mitotic progression
  • has both ubiquitin and SUMO E3 ligase activity
  • unique role in the maintenance of genomic stability and pericentric heterochromatin, as well as in cellular sensitivity to histone deacetylase inhibitors
  • may play a key role in regulating primary cilia-dependent photoreceptor development and function
  • promotes proteasomal degradation of NKX3.1 through direct interaction, predisposing cells to oncogenic transformation by providing an irreversible growth advantage as the first steps in prostate carcinogenesis
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the photoreceptor sensory cilium, which is a modified primary cilium involved with polarized trafficking of proteins
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • ions Zn2+
  • protein
  • potentially binding to the palindromic sequence in the 5'UTR of E-cadherin and in two intervening regions of TALIN
  • negative regulator of NKX3.1 (implicate TOPORS in prostate cancer progression)
  • binding partner of p53 and TOP1
  • PLK1 target (PLK1 phosphorylates TOPORS on Ser(718))
  • cell & other
    REGULATION
    Other PLK1 phosphorylation is involved in its degradation
    ASSOCIATED DISORDERS
    corresponding disease(s) RP31
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    leads to NKX3.1 proteasomal degradation in prostate cancer cells
    tumoral        
    lung carcinoma
    constitutional somatic mutation insertion    
    causing autosomal dominant retinitis pigmentosa
    constitutional somatic mutation deletion    
    causing autosomal dominant retinitis pigmentosa
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Somatic-gene-therapy rescue has been achieved in several animal models of retinal degeneration, including the rds mouse, and may also prove to be a successful approach for this type of adRP