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Aliases for TP53BP1 Gene

Aliases for TP53BP1 Gene

  • Tumor Protein P53 Binding Protein 1 2 3 5
  • P53-Binding Protein 1 3 4
  • P53BP1 3 4
  • 53BP1 3 4
  • Tumor Suppressor P53-Binding Protein 1 3
  • Tumor Protein P53-Binding Protein, 1 2
  • Tumor Protein 53-Binding Protein, 1 3
  • TP53-Binding Protein 1 3
  • TDRD30 3
  • TP53 3
  • P202 3

External Ids for TP53BP1 Gene

Previous GeneCards Identifiers for TP53BP1 Gene

  • GC15M039066
  • GC15M036595
  • GC15M041278
  • GC15M041415
  • GC15M041486
  • GC15M043699
  • GC15M020547

Summaries for TP53BP1 Gene

Entrez Gene Summary for TP53BP1 Gene

  • 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]

GeneCards Summary for TP53BP1 Gene

TP53BP1 (Tumor Protein P53 Binding Protein 1) is a Protein Coding gene. Diseases associated with TP53BP1 include Riddle Syndrome and Ataxia-Telangiectasia. Among its related pathways are DNA Damage and DNA damage_Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include sequence-specific DNA binding and p53 binding.

UniProtKB/Swiss-Prot for TP53BP1 Gene

  • Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:22553214, PubMed:23333306, PubMed:17190600, PubMed:21144835, PubMed:28241136). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23727112, PubMed:23333306). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at Lys-15 (H2AK15Ub) and histone H4 dimethylated at Lys-20 (H4K20me2), two histone marks that are present at DSBs sites (PubMed:23760478, PubMed:28241136, PubMed:17190600). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates to the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112).

Gene Wiki entry for TP53BP1 Gene

Additional gene information for TP53BP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TP53BP1 Gene

Genomics for TP53BP1 Gene

Regulatory Elements for TP53BP1 Gene

Enhancers for TP53BP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H043508 1.6 FANTOM5 ENCODE dbSUPER 16.5 +0.6 598 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3 ZSCAN29 ADAL TP53BP1 CTDSPL2 CDAN1 LCMT2 UBR1 MFAP1 MAP1A TGM7
GH15H044028 0.7 ENCODE 33.6 -519.0 -518957 2 CTCF NFIB JUN ZNF195 LCORL ZNF350 NFE2 MAFK ZNF132 MAFG TP53BP1 TUBGCP4 CTDSPL2 ENSG00000249839 WDR76 RPS3AP47 ZSCAN29 ENSG00000259563 CATSPER2 UBR1
GH15H043440 1.3 Ensembl ENCODE 11.4 +69.6 69637 2 HDGF FOXA2 ATF1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 ATF7 ADAL TGM7 MAP1A TP53BP1 PIR42778 PIR48108
GH15H044286 1.1 ENCODE 11.3 -778.1 -778066 3 HDGF PKNOX1 SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 SP3 SP5 CTDSPL2 ENSG00000259563 SPG11 LCMT2 WDR76 ZSCAN29 TUBGCP4 ENSG00000249839 ENSG00000259659 PPIP5K1
GH15H043328 1.1 ENCODE 10.5 +180.5 180542 2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ADAL LRRC57 CDAN1 ZSCAN29 UBR1 TP53BP1 MFAP1 RPS3AP47 STRCP1 TGM7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TP53BP1 on UCSC Golden Path with GeneCards custom track

Promoters for TP53BP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075848 128 1201 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3

Genomic Location for TP53BP1 Gene

Chromosome:
15
Start:
43,403,061 bp from pter
End:
43,510,728 bp from pter
Size:
107,668 bases
Orientation:
Minus strand

Genomic View for TP53BP1 Gene

Genes around TP53BP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TP53BP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TP53BP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TP53BP1 Gene

Proteins for TP53BP1 Gene

  • Protein details for TP53BP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12888-TP53B_HUMAN
    Recommended name:
    TP53-binding protein 1
    Protein Accession:
    Q12888
    Secondary Accessions:
    • F8VY86
    • Q2M1Z7
    • Q4LE46
    • Q5FWZ3
    • Q7Z3U4

    Protein attributes for TP53BP1 Gene

    Size:
    1972 amino acids
    Molecular mass:
    213574 Da
    Quaternary structure:
    • Homoligomer (PubMed:16294047, PubMed:23760478, PubMed:23345425). Interacts with p53/TP53 (via the central domain) (PubMed:12110597, PubMed:11877378). Interacts with DCLRE1C (PubMed:15574327). Interacts with histone H2AFX and this requires phosphorylation of H2AFX on Ser-139 (PubMed:12607005). Interacts with histone H4 that has been dimethylated at Lys-20 (H4K20me2) (PubMed:17190600). Has low affinity for histone H4 containing monomethylated Lys-20 (H4K20me1) (PubMed:17190600). Does not bind histone H4 containing unmethylated or trimethylated Lys-20 (H4K20me3) (PubMed:17190600). Has low affinity for histone H3 that has been dimethylated on Lys-79 (PubMed:15525939). Has very low affinity for histone H3 that has been monomethylated on Lys-79 (in vitro) (PubMed:15525939). Does not bind unmethylated histone H3 (PubMed:15525939). Interacts with histone H2A monoubiquitinated at Lys-15 (H2AK15Ub) (PubMed:23760478). Interacts with MUM1/EXPAND1 (PubMed:20347427). Interacts with CHEK2; modulates CHEK2 phosphorylation at Thr-68 in response to infrared (PubMed:12364621). Interacts with MSL1; this interaction may be required for MSL1 DNA repair activity, but not for histone acetyltransferase activity (PubMed:19650074). Interacts (when phosphorylated by ATM) with RIF1 (PubMed:23727112, PubMed:23333306, PubMed:28241136). Interacts (via the Tudor-like domain) with NUDT16L1/TIRR; interaction masks the Tudor-like domain and prevents recruitment to chromatin (PubMed:28241136). Interacts with PAXIP1 (PubMed:23727112). Interacts with IFI202A (By similarity).
    SequenceCaution:
    • Sequence=BAE06107.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TP53BP1 Gene

    Alternative splice isoforms for TP53BP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TP53BP1 Gene

Post-translational modifications for TP53BP1 Gene

  • Asymmetrically dimethylated on Arg residues by PRMT1. Methylation is required for DNA binding.
  • Phosphorylated at basal level in the absence of DNA damage (PubMed:11042216, PubMed:11331310). Phosphorylated by ATM in response to DNA damage: phosphorylation at different sites promotes interaction with different set of proteins: phosphorylation at the N-terminus by ATM (residues from 6-178) promotes interaction with PAXIP1 and non-homologous end joining (NHEJ) of dysfunctional telomeres (PubMed:23727112). Phosphorylation by ATM at residues that are located more C-terminus (residues 300-650) leads to promote interaction with RIF1 (PubMed:23727112, PubMed:23333306, PubMed:28241136). Interaction with RIF1 leads to disrupt interaction with NUDT16L1/TIRR (PubMed:28241136). Phosphorylation at Thr-1609 and Ser-1618 in the UDR motif blocks interaction with H2AK15ub (PubMed:24703952). Dephosphorylated by PPP4C (PubMed:24703952). Hyperphosphorylation during mitosis correlates with its exclusion from chromatin and DNA lesions. Hyperphosphorylated in an ATR-dependent manner in response to DNA damage induced by UV irradiation (PubMed:17553757, PubMed:21144835). Dephosphorylated by PPP5C (PubMed:19176521).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TP53BP1 (53BP1)

No data available for DME Specific Peptides for TP53BP1 Gene

Domains & Families for TP53BP1 Gene

Gene Families for TP53BP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TP53BP1 Gene

Suggested Antigen Peptide Sequences for TP53BP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12888

UniProtKB/Swiss-Prot:

TP53B_HUMAN :
  • The Tudor-like region mediates binding to histone H4 dimethylated at Lys-20 (H4K20me2) (PubMed:17190600). Interaction with NUDT16L1/TIRR masks the Tudor-like domain and prevents recruitment to chromatin (PubMed:28241136).
Domain:
  • The Tudor-like region mediates binding to histone H4 dimethylated at Lys-20 (H4K20me2) (PubMed:17190600). Interaction with NUDT16L1/TIRR masks the Tudor-like domain and prevents recruitment to chromatin (PubMed:28241136).
  • The UDR (ubiquitin-dependent recruitment) motif specifically recognizes and binds histone H2A monoubiquitinated at Lys-15 (H2AK15ub) (PubMed:23760478, PubMed:24703952). Phosphorylation of the UDR blocks interaction with H2AK15ub (PubMed:24703952).
genes like me logo Genes that share domains with TP53BP1: view

Function for TP53BP1 Gene

Molecular function for TP53BP1 Gene

GENATLAS Biochemistry:
TP53 binding protein 1,nuclear and cytoplasmic not binding mutant TP53
UniProtKB/Swiss-Prot Function:
Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:22553214, PubMed:23333306, PubMed:17190600, PubMed:21144835, PubMed:28241136). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23727112, PubMed:23333306). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at Lys-15 (H2AK15Ub) and histone H4 dimethylated at Lys-20 (H4K20me2), two histone marks that are present at DSBs sites (PubMed:23760478, PubMed:28241136, PubMed:17190600). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates to the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112).

Phenotypes From GWAS Catalog for TP53BP1 Gene

Gene Ontology (GO) - Molecular Function for TP53BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001102 RNA polymerase II activating transcription factor binding IPI 17805299
GO:0001104 RNA polymerase II transcription cofactor activity IMP 17805299
GO:0002039 p53 binding IPI 14985081
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding IEA --
genes like me logo Genes that share ontologies with TP53BP1: view
genes like me logo Genes that share phenotypes with TP53BP1: view

Animal Models for TP53BP1 Gene

MGI Knock Outs for TP53BP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TP53BP1

CRISPR Products

miRNA for TP53BP1 Gene

miRTarBase miRNAs that target TP53BP1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TP53BP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TP53BP1 Gene

Localization for TP53BP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TP53BP1 Gene

Nucleus. Chromosome. Chromosome, centromere, kinetochore. Note=Localizes to the nucleus in absence of DNA damage (PubMed:28241136). Following DNA damage, recruited to sites of DNA damage, such as double stand breaks (DSBs): recognizes and binds histone H2A monoubiquitinated at Lys-15 (H2AK15Ub) and histone H4 dimethylated at Lys-20 (H4K20me2), two histone marks that are present at DSBs sites (PubMed:23333306, PubMed:23760478, PubMed:24703952, PubMed:28241136, PubMed:17190600). Associated with kinetochores during mitosis (By similarity). {ECO:0000250 UniProtKB:P70399, ECO:0000269 PubMed:17190600, ECO:0000269 PubMed:23333306, ECO:0000269 PubMed:23760478, ECO:0000269 PubMed:28241136}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TP53BP1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TP53BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000781 colocalizes_with chromosome, telomeric region IDA 15149599
GO:0000784 nuclear chromosome, telomeric region IEA --
genes like me logo Genes that share ontologies with TP53BP1: view

Pathways & Interactions for TP53BP1 Gene

genes like me logo Genes that share pathways with TP53BP1: view

Pathways by source for TP53BP1 Gene

1 Cell Signaling Technology pathway for TP53BP1 Gene
1 KEGG pathway for TP53BP1 Gene
1 GeneGo (Thomson Reuters) pathway for TP53BP1 Gene
1 Qiagen pathway for TP53BP1 Gene

SIGNOR curated interactions for TP53BP1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for TP53BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IBA --
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TP53BP1: view

Drugs & Compounds for TP53BP1 Gene

(10) Drugs for TP53BP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for TP53BP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TP53BP1: view

Transcripts for TP53BP1 Gene

Unigene Clusters for TP53BP1 Gene

Tumor protein p53 binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TP53BP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TP53BP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^
SP1: - - -
SP2: - - -
SP3: - - - - - -
SP4:
SP5:
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11: - - - - -

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:
SP8: - -
SP9: - -
SP10:
SP11:

Relevant External Links for TP53BP1 Gene

GeneLoc Exon Structure for
TP53BP1
ECgene alternative splicing isoforms for
TP53BP1

Expression for TP53BP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TP53BP1 Gene

Protein differential expression in normal tissues from HIPED for TP53BP1 Gene

This gene is overexpressed in Liver (19.4), Fetal ovary (7.7), Fetal Brain (7.5), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TP53BP1 Gene



Protein tissue co-expression partners for TP53BP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TP53BP1 Gene:

TP53BP1

SOURCE GeneReport for Unigene cluster for TP53BP1 Gene:

Hs.440968

Evidence on tissue expression from TISSUES for TP53BP1 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Muscle(4.2)
  • Blood(3.2)
  • Skin(2.6)
  • Heart(2.3)
  • Intestine(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with TP53BP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TP53BP1 Gene

Orthologs for TP53BP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TP53BP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TP53BP1 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia TP53BP1 33 34
  • 91.41 (n)
cow
(Bos Taurus)
Mammalia TP53BP1 33 34
  • 89.5 (n)
rat
(Rattus norvegicus)
Mammalia Tp53bp1 33
  • 85.28 (n)
mouse
(Mus musculus)
Mammalia Trp53bp1 33 16 34
  • 84.77 (n)
oppossum
(Monodelphis domestica)
Mammalia TP53BP1 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TP53BP1 34
  • 37 (a)
OneToOne
chicken
(Gallus gallus)
Aves TP53BP1 33 34
  • 62.14 (n)
lizard
(Anolis carolinensis)
Reptilia TP53BP1 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tp53bp1 33
  • 59.06 (n)
Str.2039 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398208 33
zebrafish
(Danio rerio)
Actinopterygii TP53BP1 34
  • 34 (a)
OneToOne
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9533 33
worm
(Caenorhabditis elegans)
Secernentea hsr-9 34
  • 21 (a)
OneToOne
Species where no ortholog for TP53BP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TP53BP1 Gene

ENSEMBL:
Gene Tree for TP53BP1 (if available)
TreeFam:
Gene Tree for TP53BP1 (if available)

Paralogs for TP53BP1 Gene

No data available for Paralogs for TP53BP1 Gene

Variants for TP53BP1 Gene

Sequence variations from dbSNP and Humsavar for TP53BP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs200092283 Pathogenic 43,403,697(+) TGCCT(G/T)AATGA intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs1000039569 -- 43,480,839(+) GCACA(A/G)TCATG intron-variant
rs1000051278 -- 43,474,336(+) TGCAG(C/T)GGTGG intron-variant
rs1000079745 -- 43,473,029(+) AGTGA(A/G)GCTGC intron-variant
rs1000086293 -- 43,489,899(+) TAAAA(C/T)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TP53BP1 Gene

Variant ID Type Subtype PubMed ID
esv3636289 CNV loss 21293372
nsv1134438 CNV deletion 24896259
nsv1140133 CNV insertion 24896259
nsv437799 CNV loss 16327808
nsv515877 CNV loss 19592680
nsv518707 CNV loss 19592680
nsv94676 CNV deletion 16902084

Variation tolerance for TP53BP1 Gene

Residual Variation Intolerance Score: 13.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.07; 87.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TP53BP1 Gene

Human Gene Mutation Database (HGMD)
TP53BP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TP53BP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TP53BP1 Gene

Disorders for TP53BP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TP53BP1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
riddle syndrome
  • radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
ataxia-telangiectasia
  • ataxia telangiectasia
gastric cardia adenocarcinoma
  • adenocarcinoma of cardia of stomach
follicular adenoma
  • follicular adenoma of the thyroid gland
immunodeficiency with hyper-igm, type 2
  • immunodeficiency with hyper-igm type 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TP53B_HUMAN
  • 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. {ECO:0000269 PubMed:15492236}.

Relevant External Links for TP53BP1

Genetic Association Database (GAD)
TP53BP1
Human Genome Epidemiology (HuGE) Navigator
TP53BP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TP53BP1
genes like me logo Genes that share disorders with TP53BP1: view

No data available for Genatlas for TP53BP1 Gene

Publications for TP53BP1 Gene

  1. Stimulation of p53-mediated transcriptional activation by the p53-binding proteins, 53BP1 and 53BP2. (PMID: 9748285) Iwabuchi K … Fields S (The Journal of biological chemistry 1998) 2 3 4 22 60
  2. Two cellular proteins that bind to wild-type but not mutant p53. (PMID: 8016121) Iwabuchi K … Fields S (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22 60
  3. Cigarette smoking, TP53 Arg72Pro, TP53BP1 Asp353Glu and the risk of lung cancer in a Japanese population. (PMID: 20372852) Kiyohara C … Nakanishi Y (Oncology reports 2010) 3 22 45 60
  4. p8/nupr1 regulates DNA-repair activity after double-strand gamma irradiation-induced DNA damage. (PMID: 19650074) Gironella M … Iovanna JL (Journal of cellular physiology 2009) 3 4 22 60
  5. [Correlation of 53BP1 and p53 polymorphisms to susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma]. (PMID: 17927872) Cao YY … Zhang JH (Ai zheng = Aizheng = Chinese journal of cancer 2007) 3 22 45 60

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