Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11073
Gene name	DNA topoisomerase II binding protein 1
Gene symbol	TOPBP1
Synonyms (NCBI Gene)	Dpb11TOP2BP1
Chromosome	3
Chromosome location	3q22.1
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 st

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022523	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024830	hsa-miR-215-5p	Microarray	19074876
MIRT026324	hsa-miR-192-5p	Microarray	19074876
MIRT698129	hsa-miR-181a-5p	HITS-CLIP	23313552
MIRT698127	hsa-miR-181b-5p	HITS-CLIP	23313552
MIRT698126	hsa-miR-181d-5p	HITS-CLIP	23313552
MIRT698125	hsa-miR-181c-5p	HITS-CLIP	23313552
MIRT698124	hsa-miR-4262	HITS-CLIP	23313552
MIRT698123	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT698122	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT698121	hsa-miR-506-5p	HITS-CLIP	23313552
MIRT698120	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT698119	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT698118	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT698117	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT698116	hsa-miR-3155a	HITS-CLIP	23313552
MIRT698115	hsa-miR-3155b	HITS-CLIP	23313552
MIRT698114	hsa-miR-484	HITS-CLIP	23313552
MIRT698113	hsa-miR-4704-3p	HITS-CLIP	23313552
MIRT698112	hsa-miR-130a-5p	HITS-CLIP	23313552
MIRT698111	hsa-miR-23a-3p	HITS-CLIP	23313552
MIRT698110	hsa-miR-23b-3p	HITS-CLIP	23313552
MIRT698109	hsa-miR-23c	HITS-CLIP	23313552
MIRT439401	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT439401	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT698129	hsa-miR-181a-5p	HITS-CLIP	23313552
MIRT698127	hsa-miR-181b-5p	HITS-CLIP	23313552
MIRT698126	hsa-miR-181d-5p	HITS-CLIP	23313552
MIRT698125	hsa-miR-181c-5p	HITS-CLIP	23313552
MIRT698124	hsa-miR-4262	HITS-CLIP	23313552
MIRT698123	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT698122	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT698121	hsa-miR-506-5p	HITS-CLIP	23313552
MIRT698120	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT698119	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT698118	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT698117	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT698116	hsa-miR-3155a	HITS-CLIP	23313552
MIRT698115	hsa-miR-3155b	HITS-CLIP	23313552
MIRT698114	hsa-miR-484	HITS-CLIP	23313552
MIRT698113	hsa-miR-4704-3p	HITS-CLIP	23313552
MIRT698112	hsa-miR-130a-5p	HITS-CLIP	23313552
MIRT698111	hsa-miR-23a-3p	HITS-CLIP	23313552
MIRT698110	hsa-miR-23b-3p	HITS-CLIP	23313552
MIRT698109	hsa-miR-23c	HITS-CLIP	23313552
MIRT1447341	hsa-miR-124	CLIP-seq
MIRT1447342	hsa-miR-1253	CLIP-seq
MIRT1447343	hsa-miR-125a-3p	CLIP-seq
MIRT1447344	hsa-miR-1273g	CLIP-seq
MIRT1447345	hsa-miR-1323	CLIP-seq
MIRT1447346	hsa-miR-218	CLIP-seq
MIRT1447347	hsa-miR-299-5p	CLIP-seq
MIRT1447348	hsa-miR-3120-3p	CLIP-seq
MIRT1447349	hsa-miR-3150b-3p	CLIP-seq
MIRT1447350	hsa-miR-3154	CLIP-seq
MIRT1447351	hsa-miR-3155	CLIP-seq
MIRT1447352	hsa-miR-3166	CLIP-seq
MIRT1447353	hsa-miR-3200-3p	CLIP-seq
MIRT1447354	hsa-miR-3653	CLIP-seq
MIRT1447355	hsa-miR-3658	CLIP-seq
MIRT1447356	hsa-miR-3662	CLIP-seq
MIRT1447357	hsa-miR-3664-5p	CLIP-seq
MIRT1447358	hsa-miR-3692	CLIP-seq
MIRT1447359	hsa-miR-3714	CLIP-seq
MIRT1447360	hsa-miR-3910	CLIP-seq
MIRT1447361	hsa-miR-3934	CLIP-seq
MIRT1447362	hsa-miR-4270	CLIP-seq
MIRT1447363	hsa-miR-4276	CLIP-seq
MIRT1447364	hsa-miR-4282	CLIP-seq
MIRT1447365	hsa-miR-4422	CLIP-seq
MIRT1447366	hsa-miR-4436b-5p	CLIP-seq
MIRT1447367	hsa-miR-4441	CLIP-seq
MIRT1447368	hsa-miR-4477a	CLIP-seq
MIRT1447369	hsa-miR-4528	CLIP-seq
MIRT1447370	hsa-miR-4639-5p	CLIP-seq
MIRT1447371	hsa-miR-4668-3p	CLIP-seq
MIRT1447372	hsa-miR-4668-5p	CLIP-seq
MIRT1447373	hsa-miR-4689	CLIP-seq
MIRT1447374	hsa-miR-4710	CLIP-seq
MIRT1447375	hsa-miR-4714-5p	CLIP-seq
MIRT1447376	hsa-miR-4724-3p	CLIP-seq
MIRT1447377	hsa-miR-4784	CLIP-seq
MIRT1447378	hsa-miR-4792	CLIP-seq
MIRT1447379	hsa-miR-499a-5p	CLIP-seq
MIRT1447380	hsa-miR-506	CLIP-seq
MIRT1447381	hsa-miR-513a-3p	CLIP-seq
MIRT1447382	hsa-miR-522	CLIP-seq
MIRT1447383	hsa-miR-548c-3p	CLIP-seq
MIRT1447384	hsa-miR-548o	CLIP-seq
MIRT1447385	hsa-miR-548p	CLIP-seq
MIRT1447386	hsa-miR-570	CLIP-seq
MIRT1447387	hsa-miR-577	CLIP-seq
MIRT1447388	hsa-miR-583	CLIP-seq
MIRT1447389	hsa-miR-764	CLIP-seq
MIRT1447390	hsa-miR-885-5p	CLIP-seq
MIRT1447391	hsa-miR-889	CLIP-seq
MIRT1447343	hsa-miR-125a-3p	CLIP-seq
MIRT1447345	hsa-miR-1323	CLIP-seq
MIRT2133765	hsa-miR-23a	CLIP-seq
MIRT2133766	hsa-miR-23b	CLIP-seq
MIRT1447349	hsa-miR-3150b-3p	CLIP-seq
MIRT2133767	hsa-miR-3691-3p	CLIP-seq
MIRT1447361	hsa-miR-3934	CLIP-seq
MIRT1447363	hsa-miR-4276	CLIP-seq
MIRT2133768	hsa-miR-450a	CLIP-seq
MIRT1447373	hsa-miR-4689	CLIP-seq
MIRT1447377	hsa-miR-4784	CLIP-seq
MIRT1447384	hsa-miR-548o	CLIP-seq
MIRT1447389	hsa-miR-764	CLIP-seq
MIRT1447343	hsa-miR-125a-3p	CLIP-seq
MIRT1447345	hsa-miR-1323	CLIP-seq
MIRT2354897	hsa-miR-181a	CLIP-seq
MIRT2354898	hsa-miR-181b	CLIP-seq
MIRT2354899	hsa-miR-181c	CLIP-seq
MIRT2354900	hsa-miR-181d	CLIP-seq
MIRT2133765	hsa-miR-23a	CLIP-seq
MIRT2133766	hsa-miR-23b	CLIP-seq
MIRT2354901	hsa-miR-2681	CLIP-seq
MIRT2354902	hsa-miR-3145-3p	CLIP-seq
MIRT1447351	hsa-miR-3155	CLIP-seq
MIRT1447361	hsa-miR-3934	CLIP-seq
MIRT2354903	hsa-miR-3942-3p	CLIP-seq
MIRT2354904	hsa-miR-4699-3p	CLIP-seq
MIRT2354905	hsa-miR-490-5p	CLIP-seq
MIRT1447384	hsa-miR-548o	CLIP-seq
MIRT2354906	hsa-miR-548v	CLIP-seq
MIRT1447389	hsa-miR-764	CLIP-seq
MIRT1447341	hsa-miR-124	CLIP-seq
MIRT1447352	hsa-miR-3166	CLIP-seq
MIRT1447359	hsa-miR-3714	CLIP-seq
MIRT1447360	hsa-miR-3910	CLIP-seq
MIRT1447365	hsa-miR-4422	CLIP-seq
MIRT1447371	hsa-miR-4668-3p	CLIP-seq
MIRT1447380	hsa-miR-506	CLIP-seq
MIRT1447385	hsa-miR-548p	CLIP-seq
MIRT1447390	hsa-miR-885-5p	CLIP-seq

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Transcription factor	Regulation	Reference
E2F4	Repression	15195143

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	IDA	21482717, 21777809
GO:0000077	Process	DNA damage checkpoint signaling	IDA	21777809
GO:0000077	Process	DNA damage checkpoint signaling	IDA	17575048, 21777809, 31135337
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	18417535
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	26811421, 35597237
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12773567, 17006541, 17887956, 17913746, 18923429, 20080954, 21659603, 25602520, 35121901, 35842428, 37165191, 37316668
GO:0005515	Function	Protein binding	TAS	9461304
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	22369660
GO:0005634	Component	Nucleus	TAS	9461304
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA	35121901, 35842428, 37165191, 37316668
GO:0005694	Component	Chromosome	IDA	21659603
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006259	Process	DNA metabolic process	TAS	9461304
GO:0006270	Process	DNA replication initiation	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	NAS	12773567, 22369660
GO:0006302	Process	Double-strand break repair	IDA	11390642
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IDA	12773567, 30898438, 35842428, 37165191, 37316668
GO:0006974	Process	DNA damage response	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IBA
GO:0010212	Process	Response to ionizing radiation	IDA	12773567
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016604	Component	Nuclear body	IDA
GO:0016605	Component	PML body	IDA	12773567
GO:0033314	Process	Mitotic DNA replication checkpoint signaling	IBA
GO:0035825	Process	Homologous recombination	NAS	22369660
GO:0035861	Component	Site of double-strand break	IDA	26811421, 30898438, 31135337, 35597237, 37674080
GO:0042802	Function	Identical protein binding	IPI	17006541
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	21777809
GO:0051276	Process	Chromosome organization	IDA	35121901, 35842428, 37165191, 37316668
GO:0070532	Component	BRCA1-B complex	IPI	16391231
GO:0090734	Component	Site of DNA damage	IDA	21777809
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IDA	31135337
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	IDA	37440612
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	IDA	37674080
GO:0140031	Function	Phosphorylation-dependent protein binding	IDA	17575048, 20545769, 21482717, 21777809, 23891287, 26811421, 30898438, 31135337, 35597237, 37674080
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	17575048, 20545769, 21777809, 26811421, 30898438, 31135337, 35597237, 37674080
GO:0141112	Process	Broken chromosome clustering	IDA	37165191, 37316668
GO:1990166	Process	Protein localization to site of double-strand break	IDA	26811421, 37674080

MIM	HGNC	e!Ensembl
607760	17008	ENSG00000163781

Q92547

Protein name

DNA topoisomerase 2-binding protein 1 (DNA topoisomerase II-beta-binding protein 1) (TopBP1) (DNA topoisomerase II-binding protein 1)

Protein function

Scaffold protein that acts as a key protein-protein adapter in DNA replication and DNA repair (PubMed:10498869, PubMed:11395493, PubMed:11714696, PubMed:17575048, PubMed:20545769, PubMed:21777809, PubMed:26811421, PubMed:30898438, PubMed:3113533

PDB

1WF6 , 2XNH , 2XNK , 3AL2 , 3AL3 , 3JVE , 3OLC , 3PD7 , 3UEN , 3UEO , 6RML , 6RMM , 7CMZ , 8OK2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00533	BRCT	102 → 176	BRCA1 C Terminus (BRCT) domain	Family
PF00533	BRCT	195 → 271	BRCA1 C Terminus (BRCT) domain	Family
PF00533	BRCT	354 → 431	BRCA1 C Terminus (BRCT) domain	Family
PF00533	BRCT	641 → 724	BRCA1 C Terminus (BRCT) domain	Family
PF00533	BRCT	900 → 978	BRCA1 C Terminus (BRCT) domain	Family
PF00533	BRCT	1260 → 1338	BRCA1 C Terminus (BRCT) domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart, brain, placenta, lung and kidney. {ECO:0000269|PubMed:9461304}.

Sequence

MSRNDKEPFFVKFLKSSDNSKCFFKALESIKEFQSEEYLQIITEEEALKIKENDRSLYIC
DPFSGVVFDHLKKLGCRIVGPQVVIFCMHHQRCVPRAEHPVYNMVMSDVTISCTSLEKEK
REEVHKYVQMMGGRVYRDLNVSVTHLIAGEVGSKKYLVAANLKKPILLPSWIKTLWEKSQ
EKKITRYTDINMEDFKCPIFLGCIICVTGLCGLDRKEVQQLTVKHGGQYMGQLKMNECTH
LIVQEPKGQKYECAKRWNVHCVTTQWFFDSIEKGFCQDESIYKTEPRPEAKTMPNSSTPT
SQINTIDSRTLSDVSNISNINASCVSESICNSLNSKLEPTLENLENLDVSAFQAPEDLLD
GCRIYLCGFSGRKLDKLRRLINSGGGVRFNQLNEDVTHVIVGDYDDELKQFWNKSAHRPH
VVGAKWLLECFSKGYMLSEEPYIHANYQPVEIPVSHKPESKAALLKKKNSSFSKKDFAPS
EKHEQADEDLLSQYENGSSTVVEAKTSEARPFNDSTHAEPLNDSTHISLQEENQSSVSHC
VPDVSTITEEGLFSQKSFLVLGFSNENESNIANIIKENAGKIMSLLSRTVADYAVVPLLG
CEVEATVGEVVTNTWLVTCIDYQTLFDPKSNPLFTPVPVMTGMTPLEDCVISFSQCAGAE
KESLTFLANLLGASVQEYFVRKSNAKKGMFASTHLILKERGGSKYEAAKKWNLPAVTIAW
LLETARTGKRADESHFLIENSTKEERSLETEITNGINLNSDTAEHPGTRLQTHRKTVVTP
LDMNRFQSKAFRAVVSQHARQVAASPAVGQPLQKEPSLHLDTPSKFLSKDKLFKPSFDVK
DALAALETPGRPSQQKRKPSTPLSEVIVKNLQLALANSSRNAVALSASPQLKEAQSEKEE
APKPLHKVVVCVSKKLSKKQSELNGIAASLGADYRWSFDETVTHFIYQGRPNDTNREYKS
VKERGVHIVSEHWLLDCAQECKHLPESLYPHTYNPKMSLDISAVQDGRLCNSRLLSAVSS
TKDDEPDPLILEENDVDNMATNNKESAPSNGSGKNDSKGVLTQTLEMRENFQKQLQEIMS
ATSIVKPQGQRTSLSRSGCNSASSTPDSTRSARSGRSRVLEALRQSRQTVPDVNTEPSQN
EQIIWDDPTAREERARLASNLQWPSCPTQYSELQVDIQNLEDSPFQKPLHDSEIAKQAVC
DPGNIRVTEAPKHPISEELETPIKDSHLIPTPQAPSIAFPLANPPVAPHPREKIITIEET
HEELKKQYIFQLSSLNPQERIDYCHLIEKLGGLVIEKQCFDPTCTHIVVGHPLRNEKYLA
SVAAGKWVLHRSYLEACRTAGHFVQEEDYEWGSSSILDVLTGINVQQRRLALAAMRWRKK
IQQRQESGIVEGAFSGWKVILHVDQSREAGFKRLLQSGGAKVLPGHSVPLFKEATHLFSD
LNKLKPDDSGVNIAEAAAQNVYCLRTEYIADYLMQESPPHVENYCLPEAISFIQNNKELG
TGLSQKRKAPTEKNKIKRPRVH

Sequence length

1522

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination		HDR through Single Strand Annealing (SSA) Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colorectal cancer	Uncertain significance	rs770675095	RCV005939281
Pulmonary arterial hypertension	Uncertain significance	rs201889358	RCV002285240
TOPBP1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs138529143, rs200481599, rs755762254, rs1315899716, rs17301889, rs749743222, rs4854738, rs61748108, rs61758061, rs61747713, rs79533362, rs201221333, rs148403666, rs779755916, rs71317417 View all (6 more)	RCV003973218 RCV003395753 RCV003907238 RCV003921650 RCV003974400 RCV003974208 RCV003979624 RCV003977168 RCV003914098 RCV003941987 RCV003942101 RCV003972105 RCV003959210 RCV003934088 RCV003964331 RCV003981862 RCV003969596 RCV003969648 RCV003972211 RCV003976484 RCV003983215

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia Telangiectasia	Associate	25301947
Beta ketothiolase deficiency	Associate	23277395
Bloom Syndrome	Associate	35119917
Breast Neoplasms	Associate	21108795, 21799032, 22544570, 23277395
Carcinogenesis	Associate	29028101
Carcinoma Lobular	Inhibit	22544570
Carcinoma Non Small Cell Lung	Associate	27729767
Chromosome Aberrations	Associate	25794620
Colorectal Neoplasms	Associate	21811255, 28573382
Endometrial Neoplasms	Associate	24346708
Glycogen Storage Disease Type IV	Associate	24346708
Laryngeal Neoplasms	Associate	26503213
Leiomyosarcoma	Stimulate	29028101
Necrosis	Associate	29028101
Neoplasm Metastasis	Associate	26503213, 32459662
Neoplasm Recurrence Local	Stimulate	29028101
Neoplasms	Associate	23277395, 24346708, 26503213, 26811421, 35121901, 37165191
Neoplasms	Inhibit	25794620
Neoplasms Squamous Cell	Associate	26503213
Osteosarcoma	Associate	29028101
Ovarian Neoplasms	Associate	26811421
Pancreatic Neoplasms	Associate	23908141
Prostatic Neoplasms	Associate	32459662
Pulmonary Arterial Hypertension	Associate	34199176
Radiation Injuries	Associate	38169561
Sick Sinus Syndrome	Associate	36171622
Stomach Neoplasms	Associate	36171622
Vascular Diseases	Associate	34199176

TOPBP1 (DNA topoisomerase II binding protein 1)