Topors topoisomerase I binding, arginine/serine-rich [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Toporsprovided by MGI
Official Full Name: topoisomerase I binding, arginine/serine-richprovided by MGI
Primary source: MGI:MGI:2146189
See related: Ensembl:ENSMUSG00000036822 AllianceGenome:MGI:2146189
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LUN; p53BP3; TP53BPL; p53BP3/LUN
Summary: Predicted to enable several functions, including DNA topoisomerase binding activity; antigen binding activity; and ubiquitin-like protein transferase activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; positive regulation of transcription, DNA-templated; and regulation of cell population proliferation. Located in ciliary basal body; nucleus; and photoreceptor connecting cilium. Is expressed in skin. Human ortholog(s) of this gene implicated in retinitis pigmentosa 31. Orthologous to human TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 10.1), placenta adult (RPKM 9.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A5; 4 20.24 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (40259606..40269841, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (40259606..40269841, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TOPORS regulates chromatin architecture partially by interacting with PML.
Title: TOPORS, a tumor suppressor protein, contributes to the maintenance of higher-order chromatin architecture.
Data suggest a mechanism for the inhibitory effects of Sdc-1 on cell growth that involves the interaction between the cytoplasmic domain of Sdc-1 and the SUMO-1 E3 ligase, Topors.
Title: Inhibition of PDGF-B induction and cell growth by syndecan-1 involves the ubiquitin and SUMO-1 ligase, Topors.
These results indicate a unique role for Topors in the maintenance of genomic stability and pericentric heterochromatin, as well as in cellular sensitivity to histone deacetylase inhibitors.
Title: Deficiency of the dual ubiquitin/SUMO ligase Topors results in genetic instability and an increased rate of malignancy in mice.
NKX3.1 can be ubiquitinated by TOPORS in vitro and in vivo, and overexpression of TOPORS leads to NKX3.1 proteasomal degradation in prostate cancer cells
Title: Ubiquitination by TOPORS regulates the prostate tumor suppressor NKX3.1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Gene trapped (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA topoisomerase binding	ISO Inferred from Sequence Orthology more info
enables SUMO transferase activity	ISO Inferred from Sequence Orthology more info
enables antigen binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of protein location in nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein K48-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein localization to nucleus	ISO Inferred from Sequence Orthology more info
involved_in protein monoubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein monoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein sumoylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein sumoylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
colocalizes_with PML body	ISO Inferred from Sequence Orthology more info
located_in PML body	ISO Inferred from Sequence Orthology more info
located_in centriole	ISO Inferred from Sequence Orthology more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
part_of gamma-tubulin complex	ISO Inferred from Sequence Orthology more info
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor connecting cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISO Inferred from Sequence Orthology more info
part_of ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase Topors

Names: RING-type E3 ubiquitin transferase Topors; SUMO1-protein E3 ligase Topors; p53-binding protein 3; topoisomerase 1-binding RING finger; topoisomerase I-binding RING finger protein; topoisomerase I-binding arginine/serine-rich protein; tumor suppressor p53-binding protein 3

NP_001411931.1

EC 2.3.2.27

NP_598858.2

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001425002.1 → NP_001411931.1 E3 ubiquitin-protein ligase Topors isoform 2

Status: VALIDATED

Source sequence(s)

AL831793
NM_134097.3 → NP_598858.2 E3 ubiquitin-protein ligase Topors isoform 1

See identical proteins and their annotated locations for NP_598858.2

Status: VALIDATED

Source sequence(s)

AL831793

Consensus CDS

CCDS38710.1

UniProtKB/Swiss-Prot

Q3U5B5, Q3UPZ1, Q3USN3, Q3UZ55, Q80Z37, Q8BXP2, Q8CFF5, Q8CGC8, Q920L3

UniProtKB/TrEMBL

Q05D01

Related

ENSMUSP00000046843.7, ENSMUST00000042575.7

Conserved Domains (1) summary

cd00162
Location:103 → 146

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...