TOPBP1 DNA topoisomerase II binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOPBP1provided by HGNC
Official Full Name: DNA topoisomerase II binding protein 1provided by HGNC
Primary source: HGNC:HGNC:17008
See related: Ensembl:ENSG00000163781 MIM:607760; AllianceGenome:HGNC:17008
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Dpb11; TOP2BP1
Summary: This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 16.9), bone marrow (RPKM 13.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q22.1

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (133600238..133661941, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (136345391..136407104, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (133319082..133380785, complement)

Chromosome 3 - NC_000003.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spatial organization and functions of Chk1 activation by TopBP1 biomolecular condensates.
Title: Spatial organization and functions of Chk1 activation by TopBP1 biomolecular condensates.
Direct interaction with the BRD4 carboxyl-terminal motif (CTM) and TopBP1 is required for human papillomavirus 16 E2 association with mitotic chromatin and plasmid segregation function.
Title: Direct interaction with the BRD4 carboxyl-terminal motif (CTM) and TopBP1 is required for human papillomavirus 16 E2 association with mitotic chromatin and plasmid segregation function.
NRF2 promotes radiation resistance by cooperating with TOPBP1 to activate the ATR-CHK1 signaling pathway.
Title: NRF2 promotes radiation resistance by cooperating with TOPBP1 to activate the ATR-CHK1 signaling pathway.
Topoisomerase IIbeta binding protein 1 serves as a novel prognostic biomarker for stage II-III colorectal cancer patients.
Title: Topoisomerase IIβ binding protein 1 serves as a novel prognostic biomarker for stage II-III colorectal cancer patients.
Deubiquitinase OTUD6A promotes breast cancer progression by increasing TopBP1 stability and rendering tumor cells resistant to DNA-damaging therapy.
Title: Deubiquitinase OTUD6A promotes breast cancer progression by increasing TopBP1 stability and rendering tumor cells resistant to DNA-damaging therapy.
Interaction with TopBP1 Is Required for Human Papillomavirus 16 E2 Plasmid Segregation/Retention Function during Mitosis.
Title: Interaction with TopBP1 Is Required for Human Papillomavirus 16 E2 Plasmid Segregation/Retention Function during Mitosis.
The CIP2A-TOPBP1 complex safeguards chromosomal stability during mitosis.
Title: The CIP2A-TOPBP1 complex safeguards chromosomal stability during mitosis.
Disrupting PHF8-TOPBP1 connection elicits a breast tumor-specific vulnerability to chemotherapeutics.
Title: Disrupting PHF8-TOPBP1 connection elicits a breast tumor-specific vulnerability to chemotherapeutics.
CK2 Phosphorylation of Human Papillomavirus 16 E2 on Serine 23 Promotes Interaction with TopBP1 and Is Critical for E2 Interaction with Mitotic Chromatin and the Viral Life Cycle.
Title: CK2 Phosphorylation of Human Papillomavirus 16 E2 on Serine 23 Promotes Interaction with TopBP1 and Is Critical for E2 Interaction with Mitotic Chromatin and the Viral Life Cycle.
CIP2A Interacts with TopBP1 and Drives Basal-Like Breast Cancer Tumorigenesis.
Title: CIP2A Interacts with TopBP1 and Drives Basal-Like Breast Cancer Tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia	PubMed
	env	Interactions between tumor suppressor protein PML, TopBP1 and ATM exhibit in HIV-1 Env-elicited syncytia	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31992 (e-PCR)
- UniSTS:74841

SHGC-57698 (e-PCR)
- UniSTS:56209

G20668 (e-PCR)
- UniSTS:51921

A006B05 (e-PCR)
- UniSTS:51922

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin-protein adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphorylation-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA replication checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA replication initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in broken chromosome clustering	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in chromosome organization	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via alternative nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via classical nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of BRCA1-B complex	IPI Inferred from Physical Interaction more info	PubMed
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
is_active_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in condensed nuclear chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
is_active_in site of DNA damage	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	IEA Inferred from Electronic Annotation 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; topoisomerase (DNA) II binding protein 1

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_001363889.2 → NP_001350818.1 DNA topoisomerase 2-binding protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC016255, AC083905

Consensus CDS

CCDS87136.1

UniProtKB/TrEMBL

A0A2R8YD63, A0AV47

Related

ENSP00000493612.1, ENST00000642236.1

Conserved Domains (3) summary

pfam00533
Location:350 → 426

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:203 → 266

PTCB-BRCT; twin BRCT domain

cl00038
Location:644 → 715

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
NM_007027.4 → NP_008958.2 DNA topoisomerase 2-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_008958.2

Status: REVIEWED

Source sequence(s)

AC016255, AC083905, BC032633, BC126209, BC151237

Consensus CDS

CCDS46919.1

UniProtKB/Swiss-Prot

B7Z7W8, Q7LGC1, Q92547, Q9UEB9

UniProtKB/TrEMBL

A0AV47

Related

ENSP00000260810.5, ENST00000260810.10

Conserved Domains (2) summary

pfam00533
Location:105 → 176

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:203 → 266

PTCB-BRCT; twin BRCT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

133600238..133661941 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447355.1 → XP_047303311.1 DNA topoisomerase 2-binding protein 1 isoform X2

UniProtKB/TrEMBL

A0A2R8YD63, A0AV47
XM_017005636.3 → XP_016861125.1 DNA topoisomerase 2-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

B7Z7W8, Q7LGC1, Q92547, Q9UEB9

UniProtKB/TrEMBL

A0AV47

Conserved Domains (2) summary

pfam00533
Location:105 → 176

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:203 → 266

PTCB-BRCT; twin BRCT domain
XM_047447358.1 → XP_047303314.1 DNA topoisomerase 2-binding protein 1 isoform X6
XM_011512357.4 → XP_011510659.1 DNA topoisomerase 2-binding protein 1 isoform X5

Conserved Domains (2) summary

pfam00533
Location:105 → 176

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:203 → 266

PTCB-BRCT; twin BRCT domain
XM_047447356.1 → XP_047303312.1 DNA topoisomerase 2-binding protein 1 isoform X3
XM_047447357.1 → XP_047303313.1 DNA topoisomerase 2-binding protein 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

136345391..136407104 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054345054.1 → XP_054201029.1 DNA topoisomerase 2-binding protein 1 isoform X2

UniProtKB/TrEMBL

A7E2X7
XM_054345053.1 → XP_054201028.1 DNA topoisomerase 2-binding protein 1 isoform X1

UniProtKB/TrEMBL

A7E2X7
XM_054345058.1 → XP_054201033.1 DNA topoisomerase 2-binding protein 1 isoform X6
XM_054345057.1 → XP_054201032.1 DNA topoisomerase 2-binding protein 1 isoform X5
XM_054345055.1 → XP_054201030.1 DNA topoisomerase 2-binding protein 1 isoform X3
XM_054345056.1 → XP_054201031.1 DNA topoisomerase 2-binding protein 1 isoform X4