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 locu... See more...

Aliases for TOPORS Gene

Aliases for TOPORS Gene

  • TOP1 Binding Arginine/Serine Rich Protein, E3 Ubiquitin Ligase 2 3
  • TOP1 Binding Arginine/Serine Rich Protein 2 3 5
  • TP53BPL 2 3 4
  • LUN 2 3 4
  • Topoisomerase I-Binding RING Finger Protein 3 4
  • RING-Type E3 Ubiquitin Transferase Topors 3 4
  • Tumor Suppressor P53-Binding Protein 3 3 4
  • E3 Ubiquitin-Protein Ligase Topors 3 4
  • SUMO1-Protein E3 Ligase Topors 3 4
  • P53BP3 3 4
  • Topoisomerase I Binding, Arginine/Serine-Rich, E3 Ubiquitin Protein Ligase 3
  • Topoisomerase I-Binding Arginine/Serine-Rich Protein 4
  • Retinitis Pigmentosa 31 (Autosomal Dominant) 2
  • P53-Binding Protein 3 4
  • EC 2.3.2.27 4
  • TOPORS 5
  • RP31 3

External Ids for TOPORS Gene

Previous HGNC Symbols for TOPORS Gene

  • RP31

Previous GeneCards Identifiers for TOPORS Gene

  • GC09M032530
  • GC09M032496

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 (TOP1 Binding Arginine/Serine Rich Protein, E3 Ubiquitin Ligase) is a Protein Coding gene. Diseases associated with TOPORS include Retinitis Pigmentosa 31 and Retinitis Pigmentosa. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase activity.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOPORS Gene

Genomics for TOPORS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOPORS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOPORS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOPORS

Top Transcription factor binding sites by QIAGEN in the TOPORS gene promoter:
  • AML1a

Genomic Locations for TOPORS Gene

Genomic Locations for TOPORS Gene
chr9:32,540,544-32,552,628
(GRCh38/hg38)
Size:
12,085 bases
Orientation:
Minus strand
chr9:32,540,542-32,552,626
(GRCh37/hg19)
Size:
12,085 bases
Orientation:
Minus strand

Genomic View for TOPORS Gene

Genes around TOPORS on UCSC Golden Path with GeneCards custom track

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

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 Lys76, Lys73, Lys249, Lys760, and Lys819
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TOPORS Gene

InterPro:
Blocks:
  • Zn-finger, RING
ProtoNet:

Suggested Antigen Peptide Sequences for TOPORS Gene

GenScript: Design optimal peptide antigens:
  • Tumor suppressor p53-binding protein 3 (TOPRS_HUMAN)
genes like me logo Genes that share domains with TOPORS: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TOPORS Gene

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 CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.
UniProtKB/Swiss-Prot Induction:
By genotoxic agents such as cisplatin and camptothecin.

Enzyme Numbers (IUBMB) for TOPORS Gene

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with TOPORS: view
genes like me logo Genes that share phenotypes with TOPORS: view

Human Phenotype Ontology for TOPORS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TOPORS

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOPORS

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOPORS gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,IDA 18077445
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with TOPORS: view

Pathways & Interactions for TOPORS Gene

PathCards logo

SuperPathways for TOPORS Gene

No Data Available

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:0000209 protein polyubiquitination IDA 15247280
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 IEA,IDA 15735665
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
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with TOPORS: view

Transcripts for TOPORS Gene

mRNA/cDNA for TOPORS Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOPORS

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

Expression for TOPORS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TOPORS Gene



Protein tissue co-expression partners for TOPORS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOPORS

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.

Evidence on tissue expression from TISSUES for TOPORS Gene

  • Liver(4.5)
  • Lung(4.4)
  • Nervous system(3.4)
  • Kidney(2.4)
  • Skin(2.3)
  • Heart(2.3)
  • Spleen(2.3)
  • Intestine(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TOPORS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with TOPORS: view

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
Chimpanzee
(Pan troglodytes)
Mammalia TOPORS 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TOPORS 30 31
  • 92.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TOPORS 30 31
  • 91.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Topors 30 17 31
  • 86.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Topors 30
  • 84.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia TOPORS 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TOPORS 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TOPORS 30 31
  • 63.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 49 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia topors 30
  • 56.88 (n)
Str.4418 30
Zebrafish
(Danio rerio)
Actinopterygii toporsa 31
  • 39 (a)
OneToMany
toporsb 31
  • 35 (a)
OneToMany
wufi75f04 30
Fruit Fly
(Drosophila melanogaster)
Insecta Topors 31
  • 19 (a)
OneToOne
Species where no ortholog for TOPORS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TOPORS: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOPORS Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1656 Pathogenic: Retinitis pigmentosa 31 32,542,050(-) G/GT NONSENSE
636205 Uncertain Significance: Retinitis pigmentosa 32,541,652(-) T/A MISSENSE_VARIANT
712381 Likely Benign: not provided 32,542,038(-) TGAA/T INFRAME_DELETION
712568 Likely Benign: not provided 32,541,417(-) T/C SYNONYMOUS_VARIANT
732694 Likely Benign: not provided 32,541,846(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TOPORS Gene

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)

Additional Variant Information for TOPORS Gene

Human Gene Mutation Database (HGMD)
TOPORS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOPORS

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

Disorders for TOPORS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 31
  • rp31
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus dystrophy
  • retinal dystrophy
inherited retinal disorder
  • retinal dystrophy
retinitis
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for TOPORS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 CF … Bhattacharya SS (American journal of human genetics 2007) 2 3 4 23
  2. Interaction between human topoisomerase I and a novel RING finger/arginine-serine protein. (PMID: 10352183) Haluska P … Rubin EH (Nucleic acids research 1999) 2 3 4 23
  3. Plk1-mediated phosphorylation of Topors regulates p53 stability. (PMID: 19473992) Yang X … Liu X (The Journal of biological chemistry 2009) 3 4 23
  4. Ubiquitination by TOPORS regulates the prostate tumor suppressor NKX3.1. (PMID: 18077445) Guan B … Bieberich CJ (The Journal of biological chemistry 2008) 3 4 23
  5. Topors acts as a SUMO-1 E3 ligase for p53 in vitro and in vivo. (PMID: 16122737) Weger S … Heilbronn R (FEBS letters 2005) 3 4 23

Products for TOPORS Gene

Sources for TOPORS Gene