TOPORS Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TOPORS |
| Official Name | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Source:HGNC Symbol;Acc:HGNC:21653] |
| Ensembl ID | ENSG00000197579 |
| Bio databases IDs | |
| Aliases | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
| Synonyms | LUN, P53BP3, p53BP3/LUN, RP31, TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase, topoisomerase I binding, arginine/serine-rich, TP53BPL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TOPORS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SUMO transferase activity
- ubiquitin protein ligase activity
- zinc finger of C3HC4-type, RING
- enzyme binding
- antigen binding
- leucine zipper domain
- coiled-coil domain
- enzyme
- Ring finger domain
- protein binding
- DNA binding
- RING-type zinc-finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- ubiquitin-protein transferase activity
- Zinc finger, C3HC4 type (RING finger)
- zinc-RING finger domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinitis pigmentosa
- retinal dystrophy
- metabolic syndrome X
- retinitis pigmentosa type 31
- TOPORS-related retinopathy
- spontaneous preterm birth
role in cell
- apoptosis
- activation in
- proliferation
- degradation in
- growth
- accumulation in
- DNA damage response
- ubiquitination in
- sumoylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- basal bodies
- centriole
- midbody
- connecting cilia
- nucleoplasm
- spindle pole
- nuclear speckles
- PML nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TOPORS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein K48-linked ubiquitination
- protein sumoylation
- transcription, DNA-dependent
- protein polyubiquitination
- DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis
- DNA damage response, signal transduction resulting in induction of apoptosis
- response to DNA damage stimulus
- protein monoubiquitination
- regulation of cell proliferation
- ubiquitin-dependent protein catabolic process
- proteasomal ubiquitin-dependent protein catabolic process
- positive regulation of ubiquitin-protein ligase activity
- positive regulation of transcription, DNA-dependent
- protein localization to nucleus
- maintenance of protein location in nucleus
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- nucleus
- PML body
- ubiquitin ligase complex
- centriole
- cilium basal body
- nuclear speck
- spindle pole
- gamma-tubulin complex
- midbody
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- ubiquitin-protein ligase activity
- protein binding
- antigen binding
- metal ion binding
- SUMO ligase activity
- DNA topoisomerase binding