TP53BP1 - tumor protein p53 binding protein 1 Gene
Also Known as p202; 53BP1; TDRD30; p53BP1
Species: Homo sapiens
About TP53BP1
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 |
TP53BP1 Protein Structure
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 |
|
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 | 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 | 18001825 | |
|
Intra
|
TP53BP1 | Q12888 | H2AX | Homo sapiens | P16104 | 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 | 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 |
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 |
|
|
| Microcephaly Chorioretinopathy Recessive Form |
|
|
| Breast Cancer |
|
|
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
|
| Riddle Syndrome |
|
|
| Ataxia-Telangiectasia |
|
|
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Lig4 Syndrome |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Seckel Syndrome 4 |
|
|
| Ovarian Cancer |
|
|
| Nijmegen Breakage Syndrome |
|
|
| Hereditary Ataxia |
|
|
| Seckel Syndrome |
|
|
| Cerebellar Disease |
|
|
| Primary Hyperoxaluria |
|
|
| Pancreatic Cancer |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Aplastic Anemia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Bone Osteosarcoma |
|
|
| Dyskeratosis Congenita |
|
|
| Primary Autosomal Recessive Microcephaly |
|
|
| Congenital Nervous System Abnormality |
|
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 |