Topbp1 topoisomerase (DNA) II binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Topbp1provided by MGI
Official Full Name: topoisomerase (DNA) II binding protein 1provided by MGI
Primary source: MGI:MGI:1920018
See related: Ensembl:ENSMUSG00000032555 AllianceGenome:MGI:1920018
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0259; 1110031N14Rik; 2810429C13Rik; D430026L04Rik
Summary: Predicted to enable identical protein binding activity. Predicted to be involved in DNA replication initiation; mitotic G2/M transition checkpoint; and response to ionizing radiation. Predicted to act upstream of or within reciprocal meiotic recombination. Located in condensed nuclear chromosome and male germ cell nucleus. Is expressed in embryo and metanephros. Orthologous to human TOPBP1 (DNA topoisomerase II binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 24.0), liver E14 (RPKM 19.9) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F1; 9 55.19 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (103182351..103227627)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (103305167..103350428)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A TOPBP1 allele causing male infertility uncouples XY silencing dynamics from sex body formation.
Title: A TOPBP1 allele causing male infertility uncouples XY silencing dynamics from sex body formation.
Oocytes can repair DNA damage during meiosis via a microtubule-dependent recruitment of CIP2A-MDC1-TOPBP1 complex from spindle pole to chromosomes.
Title: Oocytes can repair DNA damage during meiosis via a microtubule-dependent recruitment of CIP2A-MDC1-TOPBP1 complex from spindle pole to chromosomes.
TopBP1 deficiency during spermatogenesis impairs the localization of proteins involved in early recombination at DNA double-strand break, results in meiotic chromosome defects and leads to infertility.
Title: TopBP1 deficiency impairs the localization of proteins involved in early recombination and results in meiotic chromosome defects during spermatogenesis.
DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line.
Title: DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line.
Consistent with prior reports, TopBP1 co-localized in discrete nuclear foci and was in complex with papillomavirus E2 protein.
Title: Levels of the E2 interacting protein TopBP1 modulate papillomavirus maintenance stage replication.
The deacetylated form of TopBP1 in SIRT1 mutant cells repressed replication origin firing, while the acetylated form of TopBP1 lost this function.
Title: SIRT1 deacetylates TopBP1 and modulates intra-S-phase checkpoint and DNA replication origin firing.
Studies identify the SIRT1-TopBP1 axis as a key signaling mode in the regulation of the metabolic checkpoint and the DNA damage checkpoint.
Title: A divergent role of the SIRT1-TopBP1 axis in regulating metabolic checkpoint and DNA damage checkpoint.
TopBP1 is a crucial factor in V(D)J rearrangement during the development of B, T and iNKT cells.
Title: TopBP1 deficiency impairs V(D)J recombination during lymphocyte development.
Our data suggest that, unlike the yeast models, the TopBP1-AAD is the major activator of ATR, sustaining cell proliferation and embryonic development
Title: An essential function for the ATR-activation-domain (AAD) of TopBP1 in mouse development and cellular senescence.
TopBP1 is crucial for maintaining genome integrity in the early progenitors that drive neurogenesis.
Title: Neurogenesis requires TopBP1 to prevent catastrophic replicative DNA damage in early progenitors.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

D18389 (e-PCR)
- UniSTS:124777

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

D9Mgc20 (e-PCR), detects polymorphism
- UniSTS:142760

NoName (e-PCR)
- UniSTS:236238

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin-protein adaptor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphorylation-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA replication checkpoint signaling	ISO Inferred from Sequence Orthology more info
involved_in DNA replication initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in broken chromosome clustering	ISO Inferred from Sequence Orthology more info
involved_in chromosome organization	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via alternative nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via classical nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in homologous recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic DNA replication checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic G2 DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to site of double-strand break	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within reciprocal meiotic recombination	ISA Inferred from Sequence Alignment more info	PubMed
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BRCA1-B complex	ISO Inferred from Sequence Orthology more info
located_in PML body	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in chromosome	ISO Inferred from Sequence Orthology more info
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in site of DNA damage	ISO Inferred from Sequence Orthology more info
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA topoisomerase 2-binding protein 1

Names: DNA topoisomerase II-beta-binding protein 1; DNA topoisomerase II-binding protein 1; topoisomerase (DNA) II beta binding protein

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_176979.5 → NP_795953.2 DNA topoisomerase 2-binding protein 1

See identical proteins and their annotated locations for NP_795953.2

Status: PROVISIONAL

Source sequence(s)

AC122747

Consensus CDS

CCDS23453.1

UniProtKB/Swiss-Prot

Q6P6P0, Q6ZQF0, Q80Y33, Q8BUI0, Q8BUK1, Q8R348, Q91VX3, Q922X8

Related

ENSMUSP00000035164.4, ENSMUST00000035164.10

Conserved Domains (10) summary

PHA01732
Location:1202 → 1271

PHA01732; proline-rich protein

PRK13108
Location:1127 → 1248

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cd17718
Location:352 → 433

BRCT_TopBP1_rpt3; third BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17727
Location:907 → 981

BRCT_TopBP1_rpt6; sixth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17728
Location:1392 → 1470

BRCT_TopBP1_rpt8; eighth (C-terminal) BRCT domain of DNA topoisomerase 2-binding protein 1

cd17731
Location:198 → 274

BRCT_TopBP1_rpt2_like; second BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17737
Location:108 → 179

BRCT_TopBP1_rpt1; first BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17738
Location:1263 → 1337

BRCT_TopBP1_rpt7; seventh BRCT domain of DNA topoisomerase 2-binding protein 1

cd17749
Location:556 → 639

BRCT_TopBP1_rpt4; fourth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd18434
Location:648 → 736

BRCT_TopBP1_rpt5; fifth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

103182351..103227627

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511706.5 → XP_006511769.3 DNA topoisomerase 2-binding protein 1 isoform X1

Conserved Domains (10) summary

PHA01732
Location:1228 → 1297

PHA01732; proline-rich protein

cd17718
Location:427 → 508

BRCT_TopBP1_rpt3; third BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17727
Location:982 → 1052

BRCT_TopBP1_rpt6; sixth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17728
Location:1418 → 1496

BRCT_TopBP1_rpt8; eighth (C-terminal) BRCT domain of DNA topoisomerase 2-binding protein 1

cd17731
Location:273 → 349

BRCT_TopBP1_rpt2_like; second BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17737
Location:183 → 254

BRCT_TopBP1_rpt1; first BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17738
Location:1289 → 1363

BRCT_TopBP1_rpt7; seventh BRCT domain of DNA topoisomerase 2-binding protein 1

cd17749
Location:631 → 714

BRCT_TopBP1_rpt4; fourth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd18434
Location:723 → 811

BRCT_TopBP1_rpt5; fifth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

NF033804
Location:1159 → 1272

Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin
XM_006511707.4 → XP_006511770.1 DNA topoisomerase 2-binding protein 1 isoform X2

See identical proteins and their annotated locations for XP_006511770.1

UniProtKB/Swiss-Prot

Q6P6P0, Q6ZQF0, Q80Y33, Q8BUI0, Q8BUK1, Q8R348, Q91VX3, Q922X8

Conserved Domains (10) summary

PHA01732
Location:1202 → 1271

PHA01732; proline-rich protein

PRK13108
Location:1127 → 1248

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cd17718
Location:352 → 433

BRCT_TopBP1_rpt3; third BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17727
Location:907 → 981

BRCT_TopBP1_rpt6; sixth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17728
Location:1392 → 1470

BRCT_TopBP1_rpt8; eighth (C-terminal) BRCT domain of DNA topoisomerase 2-binding protein 1

cd17731
Location:198 → 274

BRCT_TopBP1_rpt2_like; second BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17737
Location:108 → 179

BRCT_TopBP1_rpt1; first BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd17738
Location:1263 → 1337

BRCT_TopBP1_rpt7; seventh BRCT domain of DNA topoisomerase 2-binding protein 1

cd17749
Location:556 → 639

BRCT_TopBP1_rpt4; fourth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

cd18434
Location:648 → 736

BRCT_TopBP1_rpt5; fifth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins