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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TOPBP1 Gene

protein-coding GIFtS: 59
GCID: GC03M133319

topoisomerase (DNA) II binding protein 1

Explore 11 diseases affiliated with
TOPBP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Topoisomerase (DNA) II Binding Protein 1¹ ²		DNA Topoisomerase II-Binding Protein 1² ³
KIAA0259¹ ³ ⁵		DNA Topoisomerase 2-Binding Protein 1²
TOP2BP1¹ ²		TopBP1³
DNA Topoisomerase II-Beta-Binding Protein 1² ³

External Ids:	HGNC: 17008¹	Entrez Gene: 11073²	Ensembl: ENSG00000163781⁷	OMIM: 607760⁵	UniProtKB: Q92547³

Export aliases for TOPBP1 gene to outside databases

Previous GC identifers: GC03M130264 GC03M134064 GC03M134601 GC03M134640 GC03M134802 GC03M130698

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TOPBP1:

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)

UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547

Function: Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint control.

Binds double-stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF chromatin remodeling

complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S

transition and after DNA damage. Induces a large increase in the kinase activity of ATR

Gene Wiki entry for TOPBP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TOPBP1 gene promoter:
TBP p53 HSF1 (long) FOXL1 GATA-1 NRF-2 TFIID HFH-1 HSF1short Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TOPBP1 promoter sequence

Search SABiosciences Chromatin IP Primers for TOPBP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOPBP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q22.1 Ensembl cytogenetic band: 3q22.1 HGNC cytogenetic band: 3q22.1

TOPBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOPBP1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M133319: view genomic region (about GC identifiers)

Start:	133,317,019 bp from pter	End:	133,380,737 bp from pter
Size:	63,719 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547 (See protein sequence)

Recommended Name: DNA topoisomerase 2-binding protein 1

Size: 1522 amino acids; 170679 Da

Subunit: Binds E2F1, PML, RAD9A, RHNO1, SMARCA2, SMARCA4, POLE and UBR5. May interact with TOP2B. Interacts with TICRR

Subcellular location: Nucleus. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Chromosome.

Note=Detected on unpaired autosomes in meiotic prophase cells. Detected on X and Y chromosomes during later stages of

prophase. Colocalizes with ATR and H2AFX at unsynapsed chromosome cores during prophase (By similarity). Has a uniform

nuclear distribution during G phase. Colocalizes with BRCA1 at stalled replication forks during S phase. In mitotic

cells it colocalizes with BRCA1 at spindle poles and centrosomes during metaphase and anaphase. Detected in discrete

foci together with PML and numerous DNA repair enzymes after DNA damage by alkylating agents, UV or gamma irradiation.

Localizes to sites of DNA damage in a H2AX-independent manner

Sequence caution: Sequence=BAA13389.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=BAA34202.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

6/8 PDB 3D structures from and Proteopedia for TOPBP1 (see all 8):

1WF6 (3D)

2XNH (3D)

2XNK (3D)

3AL2 (3D)

3AL3 (3D)

3JVE (3D)

Secondary accessions: B7Z7W8 Q7LGC1 Q9UEB9

Explore the universe of human proteins at neXtProt for TOPBP1: NX_Q92547

Post-translational modifications:

Phosphorylated on serine and threonine residues in response to X-ray irradiation¹

Ubiquitinated and degraded by the proteasome. X-ray irradiation reduces ubiquitination¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92547

TOPBP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_008958.2

ENSEMBL proteins:

ENSP00000260810 ENSP00000458790 ENSP00000421179

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
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	GenScript Custom Purified and Recombinant Proteins Services for TOPBP1
	Novus Biologicals TOPBP1 Protein Novus Biologicals TOPBP1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TOPBP1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000794	condensed nuclear chromosome	IEA	--
GO:0000922	spindle pole	IEA	--
GO:0001673	male germ cell nucleus	IEA	--
GO:0005634	nucleus	TAS	9461304
GO:0005694	chromosome	IDA	--

TOPBP1 for ontologies About GeneDecksing

TOPBP1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TOPBP1
	R&D Systems Antibodies for TOPBP1
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	GenScript Custom Superior Antibodies Services for TOPBP1
	Novus Biologicals TOPBP1 Antibodies
	Search for Antibodies for TOPBP1 at Abcam
	Uscn Antibodies for TOPBP1
	Search ThermoFisher Antibodies for TOPBP1

Assay Products for TOPBP1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TOPBP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TOPBP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TOPBP1 for domains About GeneDecksing

3 InterPro domains/families:

IPR026993 Topbp1

IPR016126 Secretoglobin

IPR001357 BRCT_dom

Graphical View of Domain Structure for InterPro Entry Q92547

ProtoNet protein and cluster: Q92547

1 Blocks protein family: IPB001357 BRCT domain

UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547

Similarity: Contains 8 BRCT domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547

Function: Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint control.

Binds double-stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF chromatin remodeling

complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S

transition and after DNA damage. Induces a large increase in the kinase activity of ATR

Induction: Up-regulated during the S phase of the cell cycle. Up-regulated by E2F1 and interferon

miRNA Products:		OriGene 3'-UTR Clone: TOPBP1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TOPBP1
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate TOPBP1 (see all 12):
		hsa-miR-3934 hsa-miR-3155 hsa-miR-484 hsa-miR-1270 hsa-miR-182 hsa-miR-620 hsa-miR-205* hsa-miR-4276

		SwitchGear 3'UTR luciferase reporter plasmid: TOPBP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TOPBP1 (see all 4) OriGene shRNA RFP: TOPBP1 OriGene siRNA: TOPBP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOPBP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TOPBP1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOPBP1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOPBP1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TOPBP1 (NM_007027)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOPBP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOPBP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TOPBP1
		Search LifeMap BioReagents cell lines for TOPBP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOPBP1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005515	protein binding	IPI	17887956
GO:0008022	protein C-terminus binding	TAS	9461304

TOPBP1 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for TOPBP1:

Increased G2M DNA content

S arrest

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-out Topbp1^tm1.2Dsh for TOPBP1
5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Topbp1):

cellular

embryogenesis

mortality/aging

nervous system

normal

TOPBP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Meiosis

Meiosis

1.00

E2F transcription factor network

E2F transcription factor network

1.00

Fanconi Anemia pathway

BARD1 signaling events

0.23

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TOPBP1

Meiosis

2 BioSystems Pathways for TOPBP1

	E2F transcription factor network
	BARD1 signaling events

TOPBP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TOPBP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/69 Interacting proteins for TOPBP1 (Q92547^{1, 2, 3} ENSP00000260810⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 69)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
E2F1	Q01094²^,³, ENSP00000345571⁴	MINT-3379065 MINT-3379085 MINT-19370 MINT-3379112 I2D: score=4 STRING: ENSP00000345571
RAD9A	Q99638²^,³, ENSP00000311360⁴	MINT-3379418 I2D: score=4 STRING: ENSP00000311360
TOPBP1	Q92547²	MINT-3379145 MINT-3379241 MINT-3379273 MINT-3379177 MINT-3379209
ZBTB17	Q13105²^,³, ENSP00000364895⁴	MINT-7296657 MINT-7296688 I2D: score=4 STRING: ENSP00000364895
AKT1	P31749²^,³, ENSP00000270202⁴	MINT-3379015 MINT-3379039 I2D: score=2 STRING: ENSP00000270202

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006259	DNA metabolic process	TAS	9461304
GO:0006281	DNA repair	NAS	12773567
GO:0006974	response to DNA damage stimulus	IDA	12773567
GO:0010212	response to ionizing radiation	IDA	12773567

TOPBP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TOPBP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TOPBP1
1 Novoseek chemical compound relationship for TOPBP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hydroxyurea	36.6	1	16314514 (1)

Search CenterWatch for drugs/clinical trials and news about TOPBP1 / TOPB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TOPBP1 gene:

NM_007027.3

Unigene Cluster for TOPBP1:

Topoisomerase (DNA) II binding protein 1

Hs.593379 [show with all ESTs]

Unigene Representative Sequence: NM_007027

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000503338 ENST00000503464 ENST00000260810(uc003eps.3) ENST00000505804

ENST00000513818(uc003ept.1) ENST00000506779 ENST00000511439 ENST00000509162

ENST00000572787 ENST00000508524

miRNA Products:		OriGene 3'-UTR Clone: TOPBP1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TOPBP1
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate TOPBP1 (see all 12):
		hsa-miR-3934 hsa-miR-3155 hsa-miR-484 hsa-miR-1270 hsa-miR-182 hsa-miR-620 hsa-miR-205* hsa-miR-4276

		SwitchGear 3'UTR luciferase reporter plasmid: TOPBP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TOPBP1 (see all 4) OriGene shRNA RFP: TOPBP1 OriGene siRNA: TOPBP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOPBP1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOPBP1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOPBP1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TOPBP1 (NM_007027)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOPBP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOPBP1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOPBP1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TOPBP1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOPBP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOPBP1

Additional cDNA sequence:

AB019397.1 AK026229.1 AK302584.1 BC017552.1 BC032633.1 BC126209.1 BC151237.1 D87448.1

Y18557.1

10 DOTS entries:

DT.453588 DT.120910881 DT.100809817 DT.120910900 DT.100668825 DT.101965602 DT.102825083 DT.85105516

DT.95163625 DT.95240451

24/233 AceView cDNA sequences (see all 233):

AA580982 BX501663 BU682937 BU166007 BG679852 AI393640 AL601561 AI243782

AA282575 F09486 BM980333 F19044 AI186277 AL135165 AU124582 NM_007027

AI266472 BM976686 BQ002533 BE875686 BM849790 AK026229 BM800578 BE350532

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for TOPBP1 (see all 21) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	·	8d	·	8e	^	9a	·	9b	·	9c	·	9d	^	10	^	11a	·	11b	^
SP1:
SP2:
SP3:
SP4:
SP5:																													-

ExUns:	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	^	16a	·	16b	^	17	^	18	^	19	^	20	^	21a	·	21b	^	22a	·	22b	^	23	^	24a	·	24b	^	25a	·	25b	^	26a	·	26b	^	27	^	28	^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	29	^	30	^	31
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for TOPBP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TOPBP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See TOPBP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TOPBP1

SOURCE GeneReport for Unigene cluster: Hs.593379

UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547

Tissue specificity: Highly expressed in heart, brain, placenta, lung and kidney

SABiosciences Expression via Pathway-Focused PCR Array including TOPBP1:

DNA Damage Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOPBP1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TOPBP1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOPBP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOPBP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOPBP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TOPBP1 gene from 9/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Topbp1^{1 , 5}	topoisomerase (DNA) II binding protein 1^{1, 5}	81.17(n)¹ 77.55(a)¹		9 (55.19 cM)⁵ 235559¹ NM_176979.5¹ NP_795953.2¹ 103305327⁵
chicken (Gallus gallus)	Aves	TOPBP1¹	topoisomerase (DNA) II binding protein 1	71.84(n) 68.55(a)		420694 XM_418794.3 XP_418794.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	64(a) 64(a)	many → 1 many → 1	GL344507.1(38789-56190) GL343224.1(2271040-2292117)
African clawed frog (Xenopus laevis)	Amphibia	AY253323.1²	--	75.5(n)		AY253323.1
zebrafish (Danio rerio)	Actinopterygii	BQ481264.1²	--	77.12(n)		BQ481264.1
fruit fly (Drosophila melanogaster)	Insecta	mus101³	mitosis	25(a)		1 12B4 --
worm (Caenorhabditis elegans)	Secernentea	mus-101⁶	MUS (Drosophila mutagen sensitive) related family ...	17(a)	1 ↔ 1	I(10479292-10484960)
thale cress (Arabidopsis thaliana)	eudicotyledons	MEI1⁶ AT4G02110⁶	transcription coactivator protein	18(a) 12(a)	1 ↔ 1 possible ortholog	1(29056532-29062966) 4(935086-940191)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	TOPBP1A - Similar to DNA replication protein TOPBP... TOPBP1B - Similar to DNA replication protein TOPBP... (see all 3)	19(a) 11(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	11(4610058-4618167) 7(29341996-29349844)

ENSEMBL Gene Tree for TOPBP1 (if available)
TreeFam Gene Tree for TOPBP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11718234^1,2	C,F,A,H,	--	130705816(+)	`ACTTTC/TGAGCA`	1	--	int¹		2		WA NA	238
rs148232134^1,2		--	133318971(+)	`GTTTCA/GCCATG`	1	--	ds500¹		0	--	--	--	--
rs140188935^1,2		--	133318981(+)	`GTTGTC/TCAGGC`	1	--	ds500¹		0	--	--	--	--
rs150496860^1,2	C,	--	133318999(+)	`GAACTC/TCTGGG`	1	--	ds500¹		0	--	--	--	--
rs184459871^1,2		--	133319159(+)	`TCACCA/GCAACC`	1	--	ds500¹		0	--	--	--	--
rs79629232^1,2		--	133319174(+)	`CCTCCC/TGGGTT`	1	--	ds500¹		1		NA	2
rs142270324^1,2		--	133319205(+)	`GCCTCC/GTGAGT`	1	--	ds500¹		0	--	--	--	--
rs188510794^1,2		--	133319217(+)	`GCTGGC/GATTAC`	1	--	ds500¹		0	--	--	--	--
rs146383987^1,2		--	133319310(+)	`ACTCCC/TGACCT`	1	--	ds500¹		0	--	--	--	--
rs74637512^1,2		--	133319326(+)	`GATCCG/CCCTGC`	1	--	ds500¹		1		NA	2

HapMap Linkage Disequilibrium report for TOPBP1 (133317019 - 133380737 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TOPBP1: --
Human Gene Mutation Database (HGMD): TOPBP1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TOPBP1 for disorders           About GeneDecksing

OMIM gene information: 607760    OMIM disorders: --

11 diseases for TOPBP1:    About MalaCards

dna topoisomerase ii mutagen sensitivity ataxia telangiectasia breast-ovarian cancer

hereditary pancreatitis ovarian cancer ataxia breast cancer

pancreatitis retinoblastoma pancreatic cancer

5 Novoseek disease relationships for TOPBP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia	51	2	11756551 (1), 17446169 (1)
breast cancer	6.03	3	17448016 (2), 19289498 (1)
breast carcinoma	2.77	4	17448016 (2), 16996262 (1)
tumors	0	7	19289498 (3), 10498869 (1), 18314357 (1)
cancer	0	5	19289498 (2), 16930991 (2)

Human Genome Epidemiology (HuGE) Navigator: TOPBP1 (8 documents)

Export disorders for TOPBP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TOPBP1 gene, integrated from 9 sources (see all 133):
(articles sorted by number of sources associating them with TOPBP1)

Utopia: connect your pdf to the dynamic
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A DNA topoisomerase II binding protein with eight repeating regions similar to DNA repair enzymes and to a cell cycle regulator. (PubMed id 9461304)^{1, 2, 3, 9} Yamane K.... Tsuruo T. (1997)
Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)^{1, 2, 3} Nagase T....Nomura N. (1996)
PML colocalizes with and stabilizes the DNA damage response protein TopBP1. (PubMed id 12773567)^{1, 2, 9} Xu Z.-X.... Chang K.-S. (2003)
Regulation of E2F1 by BRCT domain-containing protein TopBP1. (PubMed id 12697828)^{1, 2, 9} Liu K.... Lin W.-C. (2003)
TopBP1 activates the ATR-ATRIP complex. (PubMed id 16530042)^{1, 2, 9} Kumagai A.... Dunphy W.G. (2006)
Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response. (PubMed id 11714696)^{1, 2, 9} Honda Y.... Nakao M. (2002)
TopBP1 localises to centrosomes in mitosis and to chromosome cores in meiosis. (PubMed id 15138768)^{1, 2, 9} Reini K.... Syvaeoja J.E. (2004)
TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. (PubMed id 15075294)^{1, 2, 9} Liu K.... Lin W.-C. (2004)
BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. (PubMed id 11395493)^{1, 2, 9} Maekiniemi M.... Syvaeoja J.E. (2001)
Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1 bind strand breaks and termini of DNA. (PubMed id 10498869)^{1, 2, 9} Yamane K. and Tsuruo T. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11073	HGNC: 17008	AceView: TOPBP1	Ensembl:ENSG00000163781	euGenes: HUgn11073
ECgene: TOPBP1	H-InvDB: TOPBP1

(According to HUGE)
About This Section

HUGE: KIAA0259

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TOPBP1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TOPBP1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for TOPBP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TOPBP1 gene:
Search GeneIP for patents involving TOPBP1

GeneCards and IP:
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topoisomerase (DNA) II binding protein 1

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topoisomerase (DNA) II binding protein 1

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