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Aliases for TOPORS Gene

Aliases for TOPORS Gene

  • Topoisomerase I Binding, Arginine/Serine-Rich, E3 Ubiquitin Protein Ligase 2 3
  • Topoisomerase I-Binding RING Finger Protein 3 4
  • Tumor Suppressor P53-Binding Protein 3 3 4
  • SUMO1-Protein E3 Ligase Topors 3 4
  • TP53BPL 3 4
  • P53BP3 3 4
  • LUN 3 4
  • Topoisomerase I-Binding Arginine/Serine-Rich Protein 4
  • Topoisomerase I Binding, Arginine/Serine-Rich 2
  • Retinitis Pigmentosa 31 (Autosomal Dominant) 2
  • P53-Binding Protein 3 4
  • EC 6.3.2.- 4
  • RP31 3

External Ids for TOPORS Gene

Previous HGNC Symbols for TOPORS Gene

  • RP31

Previous GeneCards Identifiers for TOPORS Gene

  • GC09M032530

Summaries for TOPORS Gene

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 retinitis pigmentosa 31. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity.

UniProtKB/Swiss-Prot for TOPORS Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOPORS Gene

Genomics for TOPORS Gene

Regulatory Elements for TOPORS Gene

Transcription factor binding sites by QIAGEN in the TOPORS gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TOPORS Gene

Chromosome:
9
Start:
32,540,544 bp from pter
End:
32,552,628 bp from pter
Size:
12,085 bases
Orientation:
Minus strand

Genomic View for TOPORS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TOPORS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOPORS Gene

Proteins for TOPORS Gene

  • Protein details for TOPORS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NS56-TOPRS_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase Topors
    Protein Accession:
    Q9NS56
    Secondary Accessions:
    • O43273
    • Q6P987
    • Q9NS55
    • Q9UNR9

    Protein attributes for TOPORS Gene

    Size:
    1045 amino acids
    Molecular mass:
    119198 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAC98530.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TOPORS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOPORS Gene

Proteomics data for TOPORS Gene at MOPED

Post-translational modifications for TOPORS Gene

  • 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.
  • Sumoylated.
  • Ubiquitination at Lys 73, Lys 76, Lys 249, Lys 760, and Lys 819
  • Modification sites at PhosphoSitePlus

Other Protein References for TOPORS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TOPORS Gene

Domains & Families for TOPORS Gene

Gene Families for TOPORS Gene

Protein Domains for TOPORS Gene

Suggested Antigen Peptide Sequences for TOPORS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NS56

UniProtKB/Swiss-Prot:

TOPRS_HUMAN :
  • Contains 1 RING-type zinc finger.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with TOPORS: view

Function for TOPORS Gene

Molecular function for TOPORS Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By genotoxic agents such as cisplatin and camptothecin.

Enzyme Numbers (IUBMB) for TOPORS Gene

Gene Ontology (GO) - Molecular Function for TOPORS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 11278651
GO:0003823 antigen binding IPI 10415337
GO:0004842 ubiquitin-protein transferase activity IMP 19473992
GO:0005515 protein binding IPI 11842245
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with TOPORS: view
genes like me logo Genes that share phenotypes with TOPORS: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOPORS

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TOPORS Gene

Localization for TOPORS Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOPORS Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TOPORS Gene COMPARTMENTS Subcellular localization image for TOPORS gene
Compartment Confidence
nucleus 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for TOPORS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 15247280
GO:0000922 spindle pole IDA 21159800
GO:0000930 gamma-tubulin complex IDA 21159800
GO:0005634 nucleus IDA 18077445
GO:0005814 centriole IDA 21159800
genes like me logo Genes that share ontologies with TOPORS: view

Pathways & Interactions for TOPORS Gene

SuperPathways for TOPORS Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for TOPORS Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TOPORS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated NAS 10352183
GO:0006511 ubiquitin-dependent protein catabolic process IMP 19473992
GO:0006513 protein monoubiquitination IDA 15247280
GO:0006974 cellular response to DNA damage stimulus IDA 15735665
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IDA 20188669
genes like me logo Genes that share ontologies with TOPORS: view

No data available for Pathways by source for TOPORS Gene

Drugs & Compounds for TOPORS Gene

(4) Drugs for TOPORS Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0
Camptothecin Experimental Pharma Topoisomerase I inhibitor,prototypic, DNA topoisomerase inhibitor 196

(1) Additional Compounds for TOPORS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with TOPORS: view

Transcripts for TOPORS Gene

mRNA/cDNA for TOPORS Gene

Unigene Clusters for TOPORS Gene

Topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOPORS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOPORS Gene

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

Relevant External Links for TOPORS Gene

GeneLoc Exon Structure for
TOPORS
ECgene alternative splicing isoforms for
TOPORS

Expression for TOPORS Gene

mRNA expression in normal human tissues for TOPORS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TOPORS Gene

This gene is overexpressed in Vitreous humor (56.9) and Liver, secretome (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TOPORS Gene



SOURCE GeneReport for Unigene cluster for TOPORS Gene Hs.589962

mRNA Expression by UniProt/SwissProt for TOPORS Gene

Q9NS56-TOPRS_HUMAN
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.
genes like me logo Genes that share expression patterns with TOPORS: view

Protein tissue co-expression partners for TOPORS Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TOPORS Gene

Orthologs for TOPORS Gene

This gene was present in the common ancestor of animals.

Orthologs for TOPORS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TOPORS 35
  • 91.3 (n)
  • 91.21 (a)
TOPORS 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOPORS 35
  • 92.83 (n)
  • 93.28 (a)
TOPORS 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Topors 35
  • 86.08 (n)
  • 87.18 (a)
Topors 16
Topors 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TOPORS 35
  • 99.55 (n)
  • 99.43 (a)
TOPORS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Topors 35
  • 84.89 (n)
  • 85.95 (a)
oppossum
(Monodelphis domestica)
Mammalia TOPORS 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOPORS 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOPORS 35
  • 63.25 (n)
  • 61.47 (a)
TOPORS 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4418 35
topors 35
  • 56.88 (n)
  • 52.29 (a)
zebrafish
(Danio rerio)
Actinopterygii wufi75f04 35
toporsa 36
  • 39 (a)
OneToMany
toporsb 36
  • 35 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Topors 36
  • 19 (a)
OneToOne
Species with no ortholog for TOPORS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TOPORS Gene

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

Paralogs for TOPORS Gene

Pseudogenes.org Pseudogenes for TOPORS Gene

genes like me logo Genes that share paralogs with TOPORS: view

No data available for Paralogs for TOPORS Gene

Variants for TOPORS Gene

Sequence variations from dbSNP and Humsavar for TOPORS Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1197246 -- 32,540,290(+) AAAAA(A/C)AACAA downstream-variant-500B
rs1197247 -- 32,540,317(+) aaaaa(A/C)cccaa downstream-variant-500B
rs1804959 -- 32,541,064(-) ATATT(A/T)TTAAG utr-variant-3-prime
rs3814518 -- 32,541,537(-) ACTCT(C/T)GATGT reference, synonymous-codon
rs7851560 -- 32,545,447(+) TTTTA(C/T)ACTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TOPORS Gene

Variant ID Type Subtype PubMed ID
nsv831540 CNV Gain 17160897

Variation tolerance for TOPORS Gene

Residual Variation Intolerance Score: 8.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.55; 55.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOPORS Gene

HapMap Linkage Disequilibrium report
TOPORS
Human Gene Mutation Database (HGMD)
TOPORS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOPORS Gene

Disorders for TOPORS Gene

MalaCards: The human disease database

(10) MalaCards diseases for TOPORS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
topors-related retinitis pigmentosa
  • rp31
retinitis pigmentosa 31
  • rp 31
rhyns syndrome
  • retinitis pigmentosa syndrome
leber congenital amaurosis 4
  • retinitis pigmentosa, juvenile
chylomicron retention disease
  • retinitis pigmentosa
- elite association

UniProtKB/Swiss-Prot

TOPRS_HUMAN
  • 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. {ECO:0000269 PubMed:17924349}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TOPORS

Genetic Association Database (GAD)
TOPORS
Human Genome Epidemiology (HuGE) Navigator
TOPORS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOPORS
genes like me logo Genes that share disorders with TOPORS: view

No data available for Genatlas for TOPORS Gene

Publications for TOPORS Gene

  1. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. (PMID: 17924349) Chakarova C.F. … Bhattacharya S.S. (Am. J. Hum. Genet. 2007) 2 23 67
  2. Interaction between human topoisomerase I and a novel RING finger/arginine-serine protein. (PMID: 10352183) Haluska P. Jr. … Rubin E.H. (Nucleic Acids Res. 1999) 2 23 67
  3. Plk1-mediated phosphorylation of Topors regulates p53 stability. (PMID: 19473992) Yang X. … Liu X. (J. Biol. Chem. 2009) 23 67
  4. Ubiquitination by TOPORS regulates the prostate tumor suppressor NKX3.1. (PMID: 18077445) Guan B. … Bieberich C.J. (J. Biol. Chem. 2008) 23 67
  5. Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. (PMID: 18509552) Bowne S.J. … Daiger S.P. (Mol. Vis. 2008) 23 67

Products for TOPORS Gene

Sources for TOPORS Gene

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