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

Gene ID: 11073, updated on 9-Feb-2020

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
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

Genomic context

See TOPBP1 in Genome Data Viewer
Location:
3q22.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (133600238..133661968, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133319449..133380762, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BFSP2 antisense RNA 1 Neighboring gene MAF1 homolog (S. cerevisiae) pseudogene Neighboring gene CDV3 homolog Neighboring gene HNF1 motif-containing MPRA enhancer 82 Neighboring gene RNA, U6 small nuclear 678, pseudogene Neighboring gene transferrin

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

NHGRI GWAS Catalog

Description
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
NHGRI GWA 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA metabolic process TAS
Traceable Author Statement
more info
PubMed 
DNA repair NAS
Non-traceable Author Statement
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
mitotic DNA replication checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
chromosome IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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)

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
    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
    Q92547
    UniProtKB/TrEMBL
    A0AV47, A7E2X7, Q05BV8
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    133600238..133661968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005636.2XP_016861125.1  DNA topoisomerase 2-binding protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q92547
    Conserved Domains (2) summary
    pfam00533
    Location:105176
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:203266
    PTCB-BRCT; twin BRCT domain
  2. XM_017005637.2XP_016861126.1  DNA topoisomerase 2-binding protein 1 isoform X4

  3. XM_011512357.3XP_011510659.1  DNA topoisomerase 2-binding protein 1 isoform X3

    Conserved Domains (2) summary
    pfam00533
    Location:105176
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:203266
    PTCB-BRCT; twin BRCT domain

RNA

  1. XR_001739988.2 RNA Sequence

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