TP53BP1 - tumor protein p53 binding protein 1 Gene

Also Known as p202; 53BP1; TDRD30; p53BP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7158

About TP53BP1

Cytogenetic location: 15q15.3 Genomic coordinates (GRCh38): 15:43,403,061-43,510,640 (from NCBI)

This gene has 17 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in brain (RPKM 10.8), testis (RPKM 9.9) and 25 other tissues.

Summary

This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]

TP53BP1 Products (5)

mRNA Protein Name
NM_001141979.3 NP_001135451.1 TP53-binding protein 1 isoform 2
NM_001141980.3 NP_001135452.1 TP53-binding protein 1 isoform 1
NM_001355001.2 NP_001341930.1 TP53-binding protein 1 isoform 4
NM_001411050.1 NP_001397979.1 TP53-binding protein 1 isoform 5
NM_005657.4 NP_005648.1 TP53-binding protein 1 isoform 3
Molecular Function GO Annotation Evidence References Source
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
17805299 GOA
enables histone reader activity IDA
IDA: Inferred from direct assay
23760478 GOA
enables methylated histone binding IDA
IDA: Inferred from direct assay
22373579 GOA
enables p53 binding IPI
IPI: Inferred from physical interaction
14985081 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11877378 GOA
enables transcription coregulator activity IMP
IMP: Inferred from mutant phenotype
17805299 GOA
enables ubiquitin-modified histone reader activity IDA
IDA: Inferred from direct assay
22492721 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with chromosome, telomeric region IDA
IDA: Inferred from direct assay
15149599 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
9748285 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28241136 GOA
is active in site of double-strand break IDA
IDA: Inferred from direct assay
22492721 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
23333306 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

TP53BP1 Protein Structure

53-BP1_Tudor

53-BP1_Tudor: Tumour suppressor p53-binding protein-1 Tudor (1488 - 1609)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1977 a.a.
Protein Preferred Names Protein Names

TP53-binding protein 1

  • p53-binding protein 1

TP53BP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TP53BP1 Q12888 DNM2 Homo sapiens P50570-2 32814053
Intra
TP53BP1 Q12888 DNM2 Homo sapiens P50570-2 32814053
Intra
TP53BP1 Q12888 DNM2 Homo sapiens P50570-2 32814053
Intra
TP53BP1 Q12888 DMWD Homo sapiens G5E9A7 32814053
Intra
TP53BP1 Q12888 DMWD Homo sapiens G5E9A7 32814053
Intra
TP53BP1 Q12888 DMWD Homo sapiens G5E9A7 32814053
Intra
TP53BP1 Q12888 ANKS1A Homo sapiens Q49AR9 32296183
Intra
TP53BP1 Q12888 VAMP1 Homo sapiens P23763-3 32814053
Intra
TP53BP1 Q12888 VAMP1 Homo sapiens P23763-3 32814053
Intra
TP53BP1 Q12888 VAMP1 Homo sapiens P23763-3 32814053
Intra
TP53BP1 Q12888 C10orf55 Homo sapiens Q5SWW7 32296183
Intra
TP53BP1 Q12888 C10orf55 Homo sapiens Q5SWW7 32296183
Intra
TP53BP1 Q12888 C10orf55 Homo sapiens Q5SWW7 32296183
Intra
TP53BP1 Q12888 OXER1 Homo sapiens Q8TDS5 32296183
Intra
TP53BP1 Q12888 OXER1 Homo sapiens Q8TDS5 32296183
Intra
TP53BP1 Q12888 OXER1 Homo sapiens Q8TDS5 32296183
Cross
TP53BP1 Q12888 Paxip1 Mus musculus Q6NZQ4 19124460
Intra
TP53BP1 Q12888 VRK1 Homo sapiens Q99986 22621922
Intra
TP53BP1 Q12888 VRK1 Homo sapiens Q99986 22621922
Intra
TP53BP1 Q12888 SHLD2 Homo sapiens Q86V20-2 29789392
Intra
TP53BP1 Q12888 VAC14 Homo sapiens Q08AM6 32296183
Intra
TP53BP1 Q12888 VAC14 Homo sapiens Q08AM6 32296183
Intra
TP53BP1 Q12888 UBAP2 Homo sapiens Q5T6F2 32296183
Intra
TP53BP1 Q12888 UBAP2 Homo sapiens Q5T6F2 32296183
Intra
TP53BP1 Q12888 UBAP2 Homo sapiens Q5T6F2 32296183
Intra
TP53BP1 Q12888 H4C16 Homo sapiens P62805 16415788
Intra
TP53BP1 Q12888 H4C16 Homo sapiens P62805 16415788
Intra
TP53BP1 Q12888 H4C16 Homo sapiens P62805 22373579
Intra
TP53BP1 Q12888 H4C16 Homo sapiens P62805 27153538
Intra
TP53BP1 Q12888 H4C16 Homo sapiens P62805
SPR
16415788
Intra
TP53BP1 Q12888 ZNHIT1 Homo sapiens O43257 17380123
Intra
TP53BP1 Q12888 BRCA1 Homo sapiens P38398 18001824
Intra
TP53BP1 Q12888 BRCA1 Homo sapiens P38398 29656893
Intra
TP53BP1 Q12888 VIM Homo sapiens P08670 32814053
Intra
TP53BP1 Q12888 VIM Homo sapiens P08670 32814053
Intra
TP53BP1 Q12888 VIM Homo sapiens P08670 32814053
Intra
TP53BP1 Q12888 H2BC10 Homo sapiens P62807 27462807
Intra
TP53BP1 Q12888 H2BC10 Homo sapiens P62807 27462807
Intra
TP53BP1 Q12888 TP53 Homo sapiens P04637 17805299
Intra
TP53BP1 Q12888 PLK1 Homo sapiens P53350 20126263
Intra
TP53BP1 Q12888 PLK1 Homo sapiens P53350 20126263
Intra
TP53BP1 Q12888 PLK1 Homo sapiens P53350 20126263
Intra
TP53BP1 Q12888 H2AX Homo sapiens P16104
IF
18001825
Intra
TP53BP1 Q12888 H2AX Homo sapiens P16104
IF
20075863
Intra
TP53BP1 Q12888 H2AX Homo sapiens P16104 17024177
Intra
TP53BP1 Q12888 H2AX Homo sapiens P16104 12607005
Intra
TP53BP1 Q12888 ATM Homo sapiens Q13315 29656893
Intra
TP53BP1 Q12888 ATM Homo sapiens Q13315 22621922
Intra
TP53BP1 Q12888 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
TP53BP1 Q12888 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
TP53BP1 Q12888 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
TP53BP1 Q12888 SPRED1 Homo sapiens Q7Z699 32814053
Intra
TP53BP1 Q12888 SPRED1 Homo sapiens Q7Z699 32814053
Intra
TP53BP1 Q12888 SPRED1 Homo sapiens Q7Z699 32814053
Intra
TP53BP1 Q12888 PECAM1 Homo sapiens P16284 32814053
Intra
TP53BP1 Q12888 PECAM1 Homo sapiens P16284 32814053
Intra
TP53BP1 Q12888 PECAM1 Homo sapiens P16284 32814053
Intra
TP53BP1 Q12888 PAXIP1 Homo sapiens Q6ZW49 15456759
Intra
TP53BP1 Q12888 CCDC120 Homo sapiens Q96HB5 32296183
Intra
TP53BP1 Q12888 MEOX2 Homo sapiens P50222 25416956
Intra
TP53BP1 Q12888 NCOA6 Homo sapiens Q14686 19433796
Intra
TP53BP1 Q12888 H3C1 Homo sapiens P68431 16415788
Intra
TP53BP1 Q12888 H3C1 Homo sapiens P68431 16415788
Intra
TP53BP1 Q12888 H3C1 Homo sapiens P68431
SPR
16415788
Intra
TP53BP1 Q12888 H3C1 Homo sapiens P68431 16415788
Intra
TP53BP1 Q12888 KLHDC7B Homo sapiens Q96G42 32296183
Intra
TP53BP1 Q12888 KLHDC7B Homo sapiens Q96G42 32296183
Intra
TP53BP1 Q12888 KLHDC7B Homo sapiens Q96G42 32296183
Intra
TP53BP1 Q12888 ATP1A3 Homo sapiens P13637 32814053
Intra
TP53BP1 Q12888 ATP1A3 Homo sapiens P13637 32814053
Intra
TP53BP1 Q12888 ATP1A3 Homo sapiens P13637 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

TP53BP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80001 53BP1 Antibody (YA649) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat
HY-P84521 53BP1 Antibody (YA4218) IHC-P, FC, ELISA Human
HY-P84521A 53BP1 Antibody (YA4218)(PBS only) IHC-P, FC, ELISA Human
HY-P86435 53BP1 Antibody (YA6127) WB, ICC/IF, IP, ELISA Human

Related Diseases

Diseases Alias
Microcephaly And Chorioretinopathy 3
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
  • MCCRP3

  • Microcephaly And Chorioretinopathy, Autosomal Recessive, Type 3

Microcephaly Chorioretinopathy Recessive Form
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

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
  • Autosomal Recessive Chorioretinopathy-Microcephaly-Intellectual Disability Syndrome

Riddle Syndrome
  • RIDL

  • Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome

  • Rnf168 Deficiency

  • Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties

  • Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties

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

Myeloproliferative Disorder, Chronic, With Eosinophilia
  • Myeloproliferative Disorder With Eosinophilia

  • MPE

  • Emp

  • Eosinophils, Malignant Proliferation Of

  • Chronic Myeloproliferative Disorder With Eosinophilia

  • Chronic Myeloproliferative Disease, Unclassifiable

  • Cmpd-U

  • Undifferentiated Myeloproliferative Disease

  • Myeloproliferative Disorder Chronic With Eosinophilia

  • Malignant Proliferation Of Eosinophils

  • Myeloproliferative Neoplasm, Unclassifiable

Autosomal Recessive Cerebellar Ataxia
  • Arca

Lig4 Syndrome
  • Dna Ligase Iv Deficiency

  • Ligase 4 Syndrome

  • LIG4S

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

Seckel Syndrome 4
  • SCKL4

  • Seckel Syndrome, Type 4

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Nijmegen Breakage Syndrome
  • Berlin Breakage Syndrome

  • NBS

  • Microcephaly, Normal Intelligence And Immunodeficiency

  • Ataxia-Telangiectasia Variant

  • Ataxia-Telangiectasia Variant V1

  • Seemanova Syndrome Ii

  • Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

  • Seemanova Syndrome Type 2

  • At-V1

  • Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

  • Immunodeficiency, Microcephaly, And Chromosomal Instability

  • Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

  • Microcephaly Immunodeficiency Lymphoreticuloma

  • Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

  • Seemanova Syndrome 2

  • Ataxia-Telangiectasia Variant 1

  • Seemanova Syndrome

  • At V1

  • Ataxia-Telangiectasia, Variant 1

  • Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

  • V-At

  • Ataxia Telangiectasia Variant V1

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Seckel Syndrome
  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Primary Hyperoxaluria
  • Hyperoxaluria

  • Hyperoxaluria, Primary

  • Oxalosis

  • Primary Oxalosis

  • Congenital Oxaluria

  • D-Glycerate Dehydrogenase Deficiency

  • Glyceric Aciduria

  • Glycolic Aciduria

  • Hepatic Agt Deficiency

  • Oxaluria, Primary

  • Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

  • Primary Oxaluria

  • Hyperoxaluria Primary

  • Primary Hyperoxaluria Type 2

  • Primary Hyperoxaluria, Type I

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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

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

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

Bone Osteosarcoma
  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone

Dyskeratosis Congenita
  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome

Primary Autosomal Recessive Microcephaly
  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly

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
Bos taurus TP53BP1 VGNC VGNC:36232
Mus musculus TP53BP1 MGD MGI:1351320
Rattus norvegicus TP53BP1 RGD RGD:1308039
Canis familiaris TP53BP1 VGNC VGNC:47720
Felis catus TP53BP1 VGNC VGNC:66461
Macaca mulatta TP53BP1 VGNC VGNC:78628
Others TP53BP1 NCBI