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

Gene ID: 11073, updated on 10-Dec-2024

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
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Genomic context

See TOPBP1 in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14748 Neighboring gene CDV3 homolog Neighboring gene uncharacterized LOC124909437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20553 Neighboring gene uncharacterized LOC124909487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20554 Neighboring gene HNF1 motif-containing MPRA enhancer 82 Neighboring gene RNA, U6 small nuclear 678, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:133393453-133393983 Neighboring gene transferrin Neighboring gene inhibitor of carbonic anhydrase pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

NEW Try the new Transcript table

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)

  1. NM_001363889.2NP_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:350426
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:203266
    PTCB-BRCT; twin BRCT domain
    cl00038
    Location:644715
    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 ...
  2. NM_007027.4NP_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:105176
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:203266
    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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    133600238..133661941 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A2R8YD63, A0AV47
  2. XM_017005636.3XP_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:105176
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:203266
    PTCB-BRCT; twin BRCT domain
  3. XM_047447358.1XP_047303314.1  DNA topoisomerase 2-binding protein 1 isoform X6

  4. XM_011512357.4XP_011510659.1  DNA topoisomerase 2-binding protein 1 isoform X5

    Conserved Domains (2) summary
    pfam00533
    Location:105176
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:203266
    PTCB-BRCT; twin BRCT domain
  5. XM_047447356.1XP_047303312.1  DNA topoisomerase 2-binding protein 1 isoform X3

  6. XM_047447357.1XP_047303313.1  DNA topoisomerase 2-binding protein 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    136345391..136407104 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A7E2X7
  2. XM_054345053.1XP_054201028.1  DNA topoisomerase 2-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    A7E2X7
  3. XM_054345058.1XP_054201033.1  DNA topoisomerase 2-binding protein 1 isoform X6

  4. XM_054345057.1XP_054201032.1  DNA topoisomerase 2-binding protein 1 isoform X5

  5. XM_054345055.1XP_054201030.1  DNA topoisomerase 2-binding protein 1 isoform X3

  6. XM_054345056.1XP_054201031.1  DNA topoisomerase 2-binding protein 1 isoform X4