Human Gene TP53BP1 (ENST00000263801.7) from GENCODE V44
Description: Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. (from RefSeq NM_005657) RefSeq Summary (NM_005657): 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]. Gencode Transcript: ENST00000263801.7 Gencode Gene: ENSG00000067369.14 Transcript (Including UTRs) Position: hg38 chr15:43,407,209-43,510,614 Size: 103,406 Total Exon Count: 28 Strand: - Coding Region Position: hg38 chr15:43,407,383-43,492,460 Size: 85,078 Coding Exon Count: 27
ID:TP53B_HUMAN DESCRIPTION: RecName: Full=Tumor suppressor p53-binding protein 1; Short=53BP1; Short=p53-binding protein 1; Short=p53BP1; FUNCTION: Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis. Enhances TP53- mediated transcriptional activation. SUBUNIT: Interacts with IFI202A (By similarity). Binds to the central domain of p53/TP53. May form homooligomers. Interacts with DCLRE1C. Interacts with histone H2AFX and this requires phosphorylation of H2AFX on 'Ser-139'. Interacts with histone H4 that has been dimethylated at 'Lys-20' (H4K20me2). Has low affinity for histone H4 containing monomethylated 'Lys-20' (H4K20me1). Does not bind histone H4 containing unmethylated or trimethylated 'Lys-20' (H4K20me3). Has low affinity for histone H3 that has been dimethylated on 'Lys-79'. Has very low affinity for histone H3 that has been monomethylated on 'Lys-79' (in vitro). Does not bind unmethylated histone H3. Interacts with MUM1/EXPAND1. Interacts with CHEK2; modulates CHEK2 phosphorylation at 'Thr-68' in response to infrared. INTERACTION: Q6ZW49:PAXIP1; NbExp=4; IntAct=EBI-396540, EBI-743225; Q6NZQ4:Paxip1 (xeno); NbExp=2; IntAct=EBI-396540, EBI-1395317; Q99986:VRK1; NbExp=8; IntAct=EBI-396540, EBI-1769146; SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with kinetochores. Both nuclear and cytoplasmic in some cells. Recruited to sites of DNA damage, such as double stand breaks. H4K20me2 is required for efficient localization to double strand breaks and removal of proteins that have a high affinity for H4K20me2 such as L3MBTL1 and KDM4A is needed. DOMAIN: The Tudor-like region mediates binding to H4K20me2. PTM: Asymmetrically dimethylated on Arg residues by PRMT1. Methylation is required for DNA binding. PTM: Phosphorylated at basal level in the absence of DNA damage. Hyper-phosphorylated in an ATM-dependent manner in response to DNA damage induced by ionizing radiation. Hyper-phosphorylated in an ATR-dependent manner in response to DNA damage induced by UV irradiation. DISEASE: Note=A chromosomal aberration involving TP53BP1 is found in a form of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;15)(q33;q22) with PDGFRB creating a TP53BP1-PDGFRB fusion protein. SIMILARITY: Contains 2 BRCT domains. SEQUENCE CAUTION: Sequence=BAE06107.1; Type=Erroneous initiation; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tp53bp1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12888
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0001102 RNA polymerase II activating transcription factor binding GO:0001104 RNA polymerase II transcription cofactor activity GO:0002039 p53 binding GO:0003677 DNA binding GO:0003684 damaged DNA binding GO:0005515 protein binding GO:0035064 methylated histone binding GO:0042162 telomeric DNA binding GO:0043565 sequence-specific DNA binding GO:0061649 ubiquitinated histone binding
Biological Process: GO:0000077 DNA damage checkpoint GO:0006281 DNA repair GO:0006303 double-strand break repair via nonhomologous end joining GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006974 cellular response to DNA damage stimulus GO:0045830 positive regulation of isotype switching GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051260 protein homooligomerization GO:0071481 cellular response to X-ray GO:2000042 negative regulation of double-strand break repair via homologous recombination
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