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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TOPORS Gene

protein-coding   GIFtS: 58
GCID: GC09M032496

Topoisomerase I Binding, Arginine/Serine-Rich, E3 Ubiquitin...

(Previous names: retinitis pigmentosa 31 (autosomal dominant), topoisomerase...)
(Previous symbol: RP31)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Topoisomerase I Binding, Arginine/Serine-Rich, E3 Ubiquitin Protein
Ligase1 2
     Retinitis Pigmentosa 31 (Autosomal Dominant)1
RP311 2 5     Topoisomerase I Binding, Arginine/Serine-Rich1
LUN2 3 5     E3 Ubiquitin-Protein Ligase Topors2
Topoisomerase I-Binding RING Finger Protein2 3     EC 6.3.2.-3
Tumor Suppressor P53-Binding Protein 32 3     P53-Binding Protein 33
TP53BPL2 3     p53BP33
SUMO1-Protein E3 Ligase Topors2 3     Topoisomerase I-Binding Arginine/Serine-Rich Protein3
P53BP32 5     

External Ids:    HGNC: 216531   Entrez Gene: 102102   Ensembl: ENSG000001975797   OMIM: 6095075   UniProtKB: Q9NS563   

Export aliases for TOPORS gene to outside databases

Previous GC identifer: GC09M032530


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TOPORS Gene:
This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger
domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this
gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding
different isoforms, have been observed for this locus. (provided by RefSeq, Sep 2010)

GeneCards Summary for TOPORS Gene: 
TOPORS (topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with TOPORS include topors-related retinitis pigmentosa, and rift valley fever. GO annotations related to this gene include ubiquitin-protein ligase activity and SUMO ligase activity.

UniProtKB/Swiss-Prot: TOPRS_HUMAN, Q9NS56
Function: Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor
involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through
ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin
modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation

Gene Wiki entry for TOPORS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TOPORS gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOPORS promoter sequence
   Search SABiosciences Chromatin IP Primers for TOPORS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOPORS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21   Ensembl cytogenetic band:  9p21.1   HGNC cytogenetic band: 9p21

TOPORS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOPORS gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M032496:  view genomic region     (about GC identifiers)

Start:
32,540,542 bp from pter      End:
32,552,626 bp from pter
Size:
12,085 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TOPRS_HUMAN, Q9NS56 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase Topors  
Size: 1045 amino acids; 119198 Da
Subunit: Interacts with PARK7/DJ-1 (By similarity). Interacts with TOP1. Interacts with p53/TP53; can both
ubiquitinate and sumoylate p53/TP53. Interacts with the SUMO1 conjugating enzyme UBE2I. Interacts with SUMO1.
Interacts with NKX3-1; polyubiquitinates NKX3-1 and induces its proteasomal degradation. Interacts with SIN3A;
sumoylates SIN3A. Interacts with IKBKE; induced by DNA damage
Subcellular location: Nucleus. Nucleus, PML body. Note=Localizes to discrete nuclear foci which partly overlap
with PML nuclear bodies. Targeted to PML nuclear bodies upon DNA damage
Caution: Was originally (PubMed:11278651) thought to bind to the palindromic consensus sequence
5'-TCCCAGCACTTTGGGA-3' and to regulate the transcription of numerous genes in the lung
Sequence caution: Sequence=AAC98530.1; Type=Erroneous initiation;
Secondary accessions: O43273 Q6P987 Q9NS55 Q9UNR9
Alternative splicing: 2 isoforms:  Q9NS56-1   Q9NS56-2   

Explore the universe of human proteins at neXtProt for TOPORS: NX_Q9NS56

Explore proteomics data for TOPORS at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-98 regulates the E3 ubiquitin-protein ligase activity but not the SUMO1-protein ligase
    activity. Phosphorylation at Ser-718 increases the E3 ubiquitin-protein ligase activity versus the SUMO1-protein
    ligase activity resulting in increased p53/TP53 ubiquitination and degradation
  • UniProtKB: Sumoylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NS56

  • TOPORS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TOPORS Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001182551.1  NP_005793.2  

    ENSEMBL proteins: 
     ENSP00000353735   ENSP00000369187  

    Human Recombinant Protein Products for TOPORS: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for TOPORS
    GenScript Custom Purified and Recombinant Proteins Services for TOPORS
    Novus Biologicals TOPORS Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TOPORS 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0000930gamma-tubulin complex IDA--
    GO:0005634nucleus IDA18077445
    GO:0005814centriole IDA--
    GO:0005868colocalizes with cytoplasmic dynein complex TAS--

    TOPORS for ontologies           About GeneDecksing



    TOPORS Antibody Products: 
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    Novus Biologicals TOPORS Antibodies
    Abcam antibodies for TOPORS
    Cloud-Clone Corp. Antibodies for TOPORS 
    Search ThermoFisher Antibodies for TOPORS
    LSBio Antibodies in human, mouse, rat for TOPORS 

    Assay Products for TOPORS: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TOPORS
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TOPORS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TOPORS 
    Cloud-Clone Corp. CLIAs for TOPORS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    3 InterPro protein domains:
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9NS56

    ProtoNet protein and cluster: Q9NS56

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: TOPRS_HUMAN, Q9NS56
    Similarity: Contains 1 RING-type zinc finger


    TOPORS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TOPRS_HUMAN, Q9NS56
    Function: Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor
    involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through
    ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin
    modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation
    Induction: By genotoxic agents such as cisplatin and camptothecin

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA11278651
    GO:0003823antigen binding IPI10415337
    GO:0004842ubiquitin-protein ligase activity IMP19473992
    GO:0005515protein binding IPI14516784
    GO:0008270zinc ion binding IEA--
         
    TOPORS for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TOPORS:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TOPORS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TOPORS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TOPORS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TOPORS 

    miRNA
    Products:
        
    miRTarBase miRNAs that target TOPORS:
    hsa-mir-21 (MIRT005324)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TOPORS
    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate TOPORS (see all 33):
    hsa-miR-2052 hsa-miR-106a hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b* hsa-miR-20a hsa-miR-4282 hsa-miR-21
    SwitchGear 3'UTR luciferase reporter plasmidTOPORS 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TOPORS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOPORS

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of TOPORS

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TOPORS (see all 8)
    OriGene ORF clones in mouse, rat for TOPORS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TOPORS (NM_005802)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOPORS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOPORS
    Sirion Biotech Customized lentivirus for stable overexpression of TOPORS 
                         Customized lentivirus expression plasmids for stable overexpression of TOPORS 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TOPORS
    Search LifeMap BioReagents cell lines for TOPORS
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOPORS


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TOPORS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/46 Interacting proteins for TOPORS (Q9NS562, 3 ENSP000003537354) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046372, 3, ENSP000002693054MINT-4329805 I2D: score=6 STRING: ENSP00000269305
    CASP8Q147902, 3, ENSP000003512734MINT-4329782 I2D: score=2 STRING: ENSP00000351273
    SNIP1Q8TAD82, 3, ENSP000002962154MINT-62167 I2D: score=3 STRING: ENSP00000296215
    HABP4Q5JVS03, ENSP000003643984I2D: score=2 STRING: ENSP00000364398
    SERBP1Q8NC513, ENSP000003600344I2D: score=2 STRING: ENSP00000360034
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent NAS10352183
    GO:0006511ubiquitin-dependent protein catabolic process IMP19473992
    GO:0006513protein monoubiquitination IDA15247280
    GO:0006915apoptotic process ----
    GO:0006974response to DNA damage stimulus IDA15735665

    TOPORS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TOPORS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TOPORS (TOPRS)

    4 HMDB Compounds for TOPORS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for TOPORS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    camptothecin 53.3 2 15735665 (1), 9512561 (1)

    Search CenterWatch for drugs/clinical trials and news about TOPORS / TOPRS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TOPORS gene (2 alternative transcripts): 
    NM_001195622.1  NM_005802.4  

    Unigene Cluster for TOPORS:

    Topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
    Hs.589962  [show with all ESTs]
    Unigene Representative Sequence: NM_005802
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360538(uc003zrb.3 uc003zrc.3) ENST00000379858
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TOPORS
    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate TOPORS (see all 33):
    hsa-miR-2052 hsa-miR-106a hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b* hsa-miR-20a hsa-miR-4282 hsa-miR-21
    SwitchGear 3'UTR luciferase reporter plasmidTOPORS 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TOPORS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOPORS
    Clone
    Products:
         
    OriGene clones in human, mouse for TOPORS (see all 8)
    OriGene ORF clones in mouse, rat for TOPORS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TOPORS (NM_005802)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOPORS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOPORS
    Sirion Biotech Customized lentivirus for stable overexpression of TOPORS 
                         Customized lentivirus expression plasmids for stable overexpression of TOPORS 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TOPORS
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TOPORS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOPORS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOPORS

    Additional mRNA sequence: 

    AB045732.1 AB045733.1 AF098300.1 BC060884.1 U82939.1 

    8 DOTS entries:

    DT.311821  DT.100748176  DT.121195797  DT.121195885  DT.91819669  DT.97779026  DT.100690322  DT.95337894 

    24/185 AceView cDNA sequences (see all 185):

    CD299987 AV645481 NM_014314 AA292388 BF055055 AI951292 AA885936 AI520921 
    AA251880 NM_005802 AI873664 AI801182 BM462986 AA126958 CB150537 BM669635 
    CB118537 BM837370 BM825879 AI350993 AA626115 AA174207 AK125989 AA506435 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TOPORS    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c
    SP1:              -                           
    SP2:              -     -                     
    SP3:                                          


    ECgene alternative splicing isoforms for TOPORS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TOPORS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAACCCTT
    TOPORS Expression
    About this image


    See TOPORS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TOPORS

    SOURCE GeneReport for Unigene cluster: Hs.589962

    UniProtKB/Swiss-Prot: TOPRS_HUMAN, Q9NS56
    Tissue specificity: Expressed at highest levels in testis and at lower levels in adrenal gland, bone marrow,
    brain, colon, heart, kidney, liver, muscle, ovary, pancreas, placenta, prostate, skeletal muscle, skin, small
    intestine, spleen, stomach, testis, thymus, thyroid and uterus. Expressed in the alveolar epithelium of the lung.
    Expression is commonly decreased in colon adenocarcinomas and lung cancers

        SABiosciences Expression via Pathway-Focused PCR Array including TOPORS: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TOPORS
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOPORS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOPORS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TOPORS gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Topors1 , 5 topoisomerase I binding, arginine/serine-rich1, 5 86.25(n)1
    87.38(a)1
      4 (20.24 cM)5
    1060211  NM_134097.31  NP_598858.21 
     402596015 
    chicken
    (Gallus gallus)
    Aves TOPORS1 topoisomerase I binding, arginine/serine-rich 63.36(n)
    60.86(a)
      427342  XM_424920.3  XP_424920.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    TOPORS6
    Uncharacterized protein
    49(a)
    47(a)
    many → 1
    many → 1
    GL343497.1(162862-163769)
    GL343463.1(56526-65252)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.44182 Transcribed sequence with weak similarity to protein more 76.26(n)    AL889310.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi75f042 Transcribed sequence with weak similarity to protein more 70.31(n)    57069658 
    fruit fly
    (Drosophila melanogaster)
    Insecta Topors6
    Topoisomerase I-interacting protein
    17(a)
    1 ↔ 1
    2R(14860117-14864767)


    ENSEMBL Gene Tree for TOPORS (if available)
    TreeFam Gene Tree for TOPORS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TOPORS gene

    TOPORS for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TOPORS
    PGOHUM00000236741


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/309 SNPs in TOPORS are shown (see all 309)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1457757061,2
    C--32510694(+) AACCCC/TGCCTC 2 -- ds50010--------
    rs771730211,2
    C,F--32510791(+) AACCCA/GGGAGG 2 -- ds50011Minor allele frequency- G:0.00WA 2
    rs1883530401,2
    --32510819(+) TGAGAC/TTGCAC 2 -- ds50010--------
    rs2020403711,2
    --32510870(+) AAAAA-/CAAAAA 2 -- ds50010--------
    rs3728465621,2
    C--32510871(+) AAAAAA/CAAAAA 2 -- ds50010--------
    rs2000508381,2
    C--32510873(+) AAAAA-/CAAACA 2 -- ds50010--------
    rs11972461,2
    C,F--32510874(+) AAAAAC/AAACAA 2 -- ds50016Minor allele frequency- A:0.17NA WA CSA 12
    rs1378940921,2
    C--32510894(+) AACAAA/CAAAAA 2 -- ds50010--------
    rs11972471,2
    C,F,H--32510904(+) aaaaaC/Acccaa 2 -- ds50012Minor allele frequency- A:0.01NS 262
    rs1481492831,2
    --32510934(+) CACATA/GGTAGG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for TOPORS (32540542 - 32552626 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TOPORS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831540CNV Gain17160897


    Human Gene Mutation Database (HGMD): TOPORS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TOPORS
    DNA2.0 Custom Variant and Variant Library Synthesis for TOPORS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609507   
    OMIM disorders: 609923  
    UniProtKB/Swiss-Prot: TOPRS_HUMAN, Q9NS56
  • Retinitis pigmentosa 31 (RP31) [MIM:609923]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 14 diseases for TOPORS:    About MalaCards
    topors-related retinitis pigmentosa    rift valley fever    retinitis pigmentosa    retinitis
    rhyns syndrome    smallpox    colon adenocarcinoma    retinal degeneration
    blindness    lung cancer    adenocarcinoma    thyroiditis
    leukemia    prostatitis

    1 disease from the University of Copenhagen DISEASES database for TOPORS:
    Retinitis pigmentosa

    TOPORS for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for TOPORS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    promyelocytic leukemia 66.4 2 16679534 (1), 17924349 (1)
    tumors 14.5 10 15735665 (2), 15107820 (2), 18077445 (2), 15899798 (1)

    Genetic Association Database (GAD): TOPORS
    Human Genome Epidemiology (HuGE) Navigator: TOPORS (2 documents)

    Export disorders for TOPORS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TOPORS gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with TOPORS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. (PubMed id 17924349)1, 2, 3, 9 Chakarova C.F.... Bhattacharya S.S. (2007)
    2. Interaction between human topoisomerase I and a novel RING finger/arginine-serine protein. (PubMed id 10352183)1, 2, 3, 9 Haluska P. Jr....Rubin E.H. (1999)
    3. The topoisomerase I-binding RING protein, topors, is associated with promyelocytic leukemia nuclear bodies. (PubMed id 12083797)1, 2, 3 Rasheed Z.A....Rubin E.H. (2002)
    4. Topors, a p53 and topoisomerase I-binding RING finger protein, is a coactivator of p53 in growth suppression induced by DNA damage. (PubMed id 15735665)1, 2, 9 Lin L.... Koseki H. (2005)
    5. The topoisomerase I- and p53-binding protein topors is differentially expressed in normal and malignant human tissues and may function as a tumor suppressor. (PubMed id 15107820)1, 2, 9 Saleem A.... Rubin E.H. (2004)
    6. Ubiquitination by TOPORS regulates the prostate tumor suppressor NKX3.1. (PubMed id 18077445)1, 2, 9 Guan B....Bieberich C.J. (2008)
    7. Plk1-mediated phosphorylation of Topors regulates p53 stability. (PubMed id 19473992)1, 2, 9 Yang X....Liu X. (2009)
    8. Topors acts as a SUMO-1 E3 ligase for p53 in vitro and in vivo. (PubMed id 16122737)1, 2, 9 Weger S.... Heilbronn R. (2005)
    9. Topors functions as an E3 ubiquitin ligase with specific E2 enzymes and ubiquitinates p53. (PubMed id 15247280)1, 2, 9 Rajendra R.... Rubin E.H. (2004)
    10. SUMOylation-dependent localization of IKKepsilon in P ML nuclear bodies is essential for protection against DNA-damage-triggered cell death. (PubMed id 20188669)1, 2 Renner F....Schmitz M.L. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10210 HGNC: 21653 AceView: TOPORSandDDX58 Ensembl:ENSG00000197579 euGenes: HUgn10210
    ECgene: TOPORS H-InvDB: TOPORS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TOPORS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TOPORS Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TOPORS gene:
    Search GeneIP for patents involving TOPORS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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