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 prote... See more...

Aliases for TP53BP1 Gene

Aliases for TP53BP1 Gene

  • Tumor Protein P53 Binding Protein 1 2 3 5
  • TP53-Binding Protein 1 3 4
  • 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
  • TDRD30 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 Breast Cancer and Riddle Syndrome. Among its related pathways are Metabolism of proteins and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and p53 binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TP53BP1 Gene

Genomics for TP53BP1 Gene

GeneHancer (GH) Regulatory Elements for TP53BP1 Gene

Promoters and enhancers for TP53BP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TP53BP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TP53BP1

Top Transcription factor binding sites by QIAGEN in the TP53BP1 gene promoter:
  • AP-1
  • AREB6
  • Arnt
  • ATF-2
  • Bach2
  • c-Jun
  • C/EBPalpha
  • GATA-3
  • MAZR
  • Olf-1

Genomic Locations for TP53BP1 Gene

Genomic Locations for TP53BP1 Gene
chr15:43,403,061-43,510,728
(GRCh38/hg38)
Size:
107,668 bases
Orientation:
Minus strand
chr15:43,699,407-43,802,926
(GRCh37/hg19)
Size:
103,520 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 PWWP3A/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). Interacts with SHLD2 (PubMed:29789392).
    SequenceCaution:
    • Sequence=BAE06107.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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).
  • Ubiquitination at Lys527
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for TP53BP1

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

Blocks:
  • BRCT domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TP53BP1 Gene

GenScript: Design optimal peptide antigens:
  • Tumor suppressor p53-binding protein 1 (Q3YL84_HUMAN)
  • Tumor suppressor p53-binding protein 1 (TP53B_HUMAN)

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

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).
GENATLAS Biochemistry:
TP53 binding protein 1,nuclear and cytoplasmic not binding mutant TP53

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:0002039 p53 binding IPI 14985081
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding IEA --
GO:0003712 transcription coregulator activity IMP 17805299
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:

miRNA for TP53BP1 Gene

miRTarBase miRNAs that target TP53BP1

Clone Products

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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
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 GeneGo (Thomson Reuters) pathway for TP53BP1 Gene
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
1 Qiagen pathway for TP53BP1 Gene
  • ATM Pathway
1 Cell Signaling Technology pathway for TP53BP1 Gene

SIGNOR curated interactions for TP53BP1 Gene

Activates:
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 21873635
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006974 cellular response to DNA damage stimulus IDA,IEA 17500065
GO:0045830 positive regulation of isotype switching IMP 23760478
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

mRNA/cDNA for TP53BP1 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

Expression for TP53BP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TP53BP1 Gene



Protein tissue co-expression partners for TP53BP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.3)
  • Skin(2.6)
  • Heart(2.3)
  • Intestine(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with TP53BP1: view

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 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TP53BP1 31 30
  • 91.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TP53BP1 31 30
  • 89.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tp53bp1 30
  • 85.28 (n)
mouse
(Mus musculus)
Mammalia Trp53bp1 17 31 30
  • 84.77 (n)
oppossum
(Monodelphis domestica)
Mammalia TP53BP1 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TP53BP1 31
  • 37 (a)
OneToOne
chicken
(Gallus gallus)
Aves TP53BP1 31 30
  • 62.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TP53BP1 31
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tp53bp1 30
  • 59.06 (n)
Str.2039 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398208 30
zebrafish
(Danio rerio)
Actinopterygii TP53BP1 31
  • 34 (a)
OneToOne
-- 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9533 30
worm
(Caenorhabditis elegans)
Secernentea hsr-9 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TP53BP1: view image

Paralogs for TP53BP1 Gene

No data available for Paralogs for TP53BP1 Gene

Variants for TP53BP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TP53BP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
728236 Benign: not provided 43,420,678(-) T/C SYNONYMOUS_VARIANT
731800 Benign: not provided 43,475,663(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
736793 Likely Benign: not provided 43,457,096(-) A/G SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
741414 Likely Benign: not provided 43,403,732(-) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
747273 Likely Benign: not provided 43,421,079(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TP53BP1 Gene

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)

Additional Variant Information 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

(20) MalaCards diseases for TP53BP1 Gene - From: LncRNADisease, DISEASES, Novoseek, and GeneCards

- 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}.

Additional Disease Information for TP53BP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 54
  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 23 54
  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 23 41 54
  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 23 54
  5. Polymorphic TP53BP1 and TP53 gene interactions associated with risk of squamous cell carcinoma of the head and neck. (PMID: 17634560) Chen K … Wei Q (Clinical cancer research : an official journal of the American Association for Cancer Research 2007) 3 23 41 54

Products for TP53BP1 Gene

Sources for TP53BP1 Gene