TOPBP1 - DNA topoisomerase II binding protein 1 Gene

Also Known as Dpb11; TOP2BP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11073

About TOPBP1

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:133,600,238-133,661,941 (from NCBI)

This gene has 10 transcripts (splice variants), 199 orthologues and 1 paralogue. Broad expression in testis (RPKM 16.9), bone marrow (RPKM 13.6) and 25 other tissues.

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]

TOPBP1 Products (2)

mRNA Protein Name
NM_001363889.2 NP_001350818.1 DNA topoisomerase 2-binding protein 1 isoform 2
NM_007027.4 NP_008958.2 DNA topoisomerase 2-binding protein 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables chromatin-protein adaptor activity IDA
IDA: Inferred from direct assay
17575048 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
17006541 GOA
enables phosphorylation-dependent protein binding IDA
IDA: Inferred from direct assay
17575048 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12773567 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: Inferred from direct assay
21777809 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage checkpoint signaling IDA
IDA: Inferred from direct assay
17575048 GOA
involved in DNA damage response IDA
IDA: Inferred from direct assay
12773567 GOA
involved in DNA replication checkpoint signaling IDA
IDA: Inferred from direct assay
21482717 GOA
involved in broken chromosome clustering IDA
IDA: Inferred from direct assay
37165191 GOA
involved in chromosome organization IDA
IDA: Inferred from direct assay
35121901 GOA
involved in double-strand break repair via alternative nonhomologous end joining IDA
IDA: Inferred from direct assay
37674080 GOA
involved in double-strand break repair via classical nonhomologous end joining IDA
IDA: Inferred from direct assay
31135337 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
26811421 GOA
involved in protein localization to site of double-strand break IDA
IDA: Inferred from direct assay
26811421 GOA
involved in response to ionizing radiation IDA
IDA: Inferred from direct assay
12773567 GOA
Cellular Component GO Annotation Evidence References Source
part of BRCA1-B complex IPI
IPI: Inferred from physical interaction
16391231 GOA
located in PML body IDA
IDA: Inferred from direct assay
12773567 GOA
is active in chromosome IDA
IDA: Inferred from direct assay
35121901 GOA
located in chromosome IDA
IDA: Inferred from direct assay
21659603 GOA
is active in site of DNA damage IDA
IDA: Inferred from direct assay
21777809 GOA
is active in site of double-strand break IDA
IDA: Inferred from direct assay
26811421 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOPBP1 Protein Structure

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (106 - 174)

PTCB-BRCT

PTCB-BRCT: twin BRCT domain (203 - 266)

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (356 - 431)

PTCB-BRCT

PTCB-BRCT: twin BRCT domain (649 - 720)

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (902 - 977)

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (1265 - 1337)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1522 a.a.
Protein Preferred Names Protein Names

DNA topoisomerase 2-binding protein 1

  • DNA topoisomerase II-beta-binding protein 1

TOPBP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TOPBP1 Q92547 E2 Human papillomavirus P03120 17006541
Intra
TOPBP1 Q92547 E2 Human papillomavirus P03120 11934899
Intra
TOPBP1 Q92547 E2F1 Homo sapiens Q01094 14576432
Intra
TOPBP1 Q92547 TCF20 Homo sapiens Q9UGU0 17913746
Intra
TOPBP1 Q92547 E2F1 Homo sapiens Q01094 17006541
Intra
TOPBP1 Q92547 TCF20 Homo sapiens Q9UGU0 17913746
Intra
TOPBP1 Q92547 TCF20 Homo sapiens Q9UGU0 17913746
Intra
TOPBP1 Q92547 CDC45 Homo sapiens O75419 17887956
Intra
TOPBP1 Q92547 TCF20 Homo sapiens Q9UGU0
Y2H
17913746
Intra
TOPBP1 Q92547 E2F1 Homo sapiens Q01094 17006541
Cross: Cross-species interaction Intra: Intraspecies interaction

TOPBP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P87126 TopBP1 Antibody (YA6819) WB, IHC-P Human

Related Diseases

Diseases Alias
Ataxia-Telangiectasia
  • Ataxia Telangiectasia

  • Louis-Bar Syndrome

  • AT

  • At1

  • Ataxia-Telangiectasia Syndrome

  • Ataxia - Telangiectasia Variant

  • Boder-Sedgwick Syndrome

  • Louis Bar Syndrome

  • Cerebello-Oculocutaneous Telangiectasia

  • Immunodeficiency With Ataxia Telangiectasia

  • A-T

  • Ataxia Telangiectasia Syndrome

  • Atm

  • Telangiectasia, Cerebello-Oculocutaneous

  • Ataxia-Telangiectasia Variant

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Seckel Syndrome
  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism

Pulmonary Venoocclusive Disease
  • Pulmonary Veno-Occlusive Disease

  • Obstructive Disease Of The Pulmonary Veins

  • Pvod

  • Isolated Pulmonary Venous Sclerosis

  • Venous Form Of Primary Pulmonary Hypertension

  • Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Primary Autosomal Recessive Microcephaly
  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris TOPBP1 VGNC VGNC:49635
Bos taurus TOPBP1 VGNC VGNC:49585
Macaca mulatta TOPBP1 VGNC VGNC:79061
Rattus norvegicus TOPBP1 RGD RGD:1562949
Felis catus TOPBP1 VGNC VGNC:66452
Mus musculus TOPBP1 MGD MGI:1920018
Others TOPBP1 NCBI