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Aliases for TP53BP1 Gene

Aliases for TP53BP1 Gene

  • Tumor Protein P53 Binding Protein 1 2 3
  • 53BP1 3 4 6
  • Tumor Protein P53-Binding Protein, 1 2 3
  • P53-Binding Protein 1 3 4
  • P53BP1 3 4
  • Tumor Suppressor P53-Binding Protein 1 3
  • Tumor Protein 53-Binding Protein, 1 3
  • P202 3

External Ids for TP53BP1 Gene

Summaries for TP53BP1 Gene

GeneCards Summary for TP53BP1 Gene

TP53BP1 (Tumor Protein P53 Binding Protein 1) is a Protein Coding gene. Among its related pathways are Cell Cycle / Checkpoint Control and Homologous Recombination Repair. GO annotations related to this gene include p53 binding and methylated histone binding.

UniProtKB/Swiss-Prot for TP53BP1 Gene

  • Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis. Enhances TP53-mediated transcriptional activation.

Gene Wiki entry for TP53BP1 Gene

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

Genomics for TP53BP1 Gene

Genomic Location for TP53BP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TP53BP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TP53BP1 Gene

Regulatory Elements for TP53BP1 Gene

Proteins for TP53BP1 Gene

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

    Protein Symbol:
    Q12888-TP53B_HUMAN
    Recommended name:
    Tumor suppressor p53-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:
    • 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. Interacts with MSL1; this interaction may be required for MSL1 DNA repair activity, but not for histone acetyltransferase activity.
    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

Proteomics data for TP53BP1 Gene at MOPED

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. 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. Dephosphorylated by PPP5C.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys527

No data available for DME Specific Peptides for TP53BP1 Gene

Domains for TP53BP1 Gene

Protein Domains for TP53BP1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TP53B_HUMAN
Domain:
  • The Tudor-like region mediates binding to H4K20me2:
    • Q12888
  • Contains 2 BRCT domains.:
    • Q12888
genes like me logo Genes that share domains with TP53BP1: view

No data available for Gene Families for TP53BP1 Gene

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: Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis. Enhances TP53-mediated transcriptional activation.

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:0003684 damaged DNA binding IEA --
GO:0005515 protein binding IPI 11877378
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

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TP53BP1 Gene

Localization for TP53BP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TP53BP1 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TP53BP1 Gene COMPARTMENTS Subcellular localization image for TP53BP1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for TP53BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000781 colocalizes_with chromosome, telomeric region IDA 15149599
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with TP53BP1: view

Pathways for TP53BP1 Gene

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

Pathways by source for TP53BP1 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for TP53BP1 Gene
1 Qiagen pathway for TP53BP1 Gene

Gene Ontology (GO) - Biological Process for TP53BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0006281 DNA repair TAS --
GO:0006302 double-strand break repair TAS --
GO:0006366 transcription from RNA polymerase II promoter IMP 17805299
GO:0006974 cellular response to DNA damage stimulus IDA 17500065
genes like me logo Genes that share ontologies with TP53BP1: view

Compounds for TP53BP1 Gene

(15) ApexBio Compounds for TP53BP1 Gene

Compound Action Cas Number
AMG232 potent and selective piperidinone inhibitor of the MDM2-p53 interaction.
CP 31398 dihydrochloride p53 stabilizing agent. [1217195-61-3]
JNJ-26854165 (Serdemetan) p53 activator, blocking Mdm2-p53 interaction [881202-45-5]
Nutlin-3 inhibitor of the MDM2/p53 interaction [890090-75-2]
Nutlin-3a chiral inhibits the MDM2-p53 interaction and activates p53. [675576-98-4]
p53 and MDM2 proteins-interaction-inhibitor chiral inhibitor of the interaction between p53 and MDM2 proteins. [939981-37-0]
Pifithrin-miu Inhibits p53 binding to mitochondria. [64984-31-2]
PRIMA-1 Cell-permeable BAX inhibitor, restore p53 activity [5608-24-2]
PRIMA-1MET Cell-permeable BAX inhibitor, restore p53 activity [5291-32-7]
RG7112 Restoration of p53 activity by inhibiting the p53-MDM2 interaction. [939981-39-2]
RG7388 Blocking the MDM2-p53 interaction stabilizes p53. [1229705-06-9]
RITA (NSC 652287) Cell-permeable antitumor agent, blocking Mdm2-p53 interaction and p53 ubiquitination [213261-59-7]
SJ 172550 Inhibits the MDMX-p53 interaction in cultured retinoblastoma cells. [431979-47-4]
Tenovin-1 Cell-permeable, reversible SIRT2 inhibitor, activates p53 [380315-80-0]
Tenovin-3 Tenovin-3 [1011301-27-1]

(14) Novoseek inferred chemical compound relationships for TP53BP1 Gene

Compound -log(P) Hits PubMed IDs
p202 96.9 116
mnda 79.8 1
camptothecin 43.2 6
wortmannin 35.1 2
hydroxyurea 33.3 3
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:

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 for TP53BP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TP53BP1 Gene

SOURCE GeneReport for Unigene cluster for TP53BP1 Gene Hs.440968

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

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 36
  • 99.58 (n)
  • 99.24 (a)
TP53BP1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TP53BP1 36
  • 89.5 (n)
  • 87.84 (a)
TP53BP1 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TP53BP1 36
  • 91.41 (n)
  • 89.57 (a)
TP53BP1 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trp53bp1 36
  • 84.77 (n)
  • 81.55 (a)
Trp53bp1 16
Trp53bp1 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TP53BP1 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TP53BP1 37
  • 37 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tp53bp1 36
  • 85.28 (n)
  • 82.48 (a)
chicken
(Gallus gallus)
Aves TP53BP1 36
  • 62.14 (n)
  • 56.35 (a)
TP53BP1 37
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TP53BP1 37
  • 42 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398208 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2039 36
tp53bp1 36
  • 59.06 (n)
  • 52.27 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9533 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
TP53BP1 37
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hsr-9 37
  • 21 (a)
OneToOne
Species with no ortholog for TP53BP1:
  • 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 MAF
rs101094 -- 43,495,124(+) AGGCA(C/G)AGGTT upstream-variant-2KB, intron-variant
rs471229 -- 43,441,796(-) tccag(C/T)ttggg intron-variant
rs483724 -- 43,464,861(+) caaga(A/T)catgc intron-variant
rs493377 -- 43,481,269(-) TTTCT(A/G)CCTCT intron-variant
rs495175 -- 43,506,486(-) AGGCT(C/G)TTTCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv94676 CNV Loss 16902084
nsv437799 CNV Loss 16327808
nsv515877 CNV Loss 19592680
nsv518707 CNV Loss 19592680

Relevant External Links for TP53BP1 Gene

HapMap Linkage Disequilibrium report
TP53BP1
Human Gene Mutation Database (HGMD)
TP53BP1

Disorders for TP53BP1 Gene

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.

(15) Novoseek inferred disease relationships for TP53BP1 Gene

Disease -log(P) Hits PubMed IDs
ataxia telangiectasia 83.5 17
retinoblastoma 42.3 7
cancer 37.9 14
tumors 29.6 36
chromosomal aberrations 14.7 2

Relevant External Links for TP53BP1

Genetic Association Database (GAD)
TP53BP1
Human Genome Epidemiology (HuGE) Navigator
TP53BP1
genes like me logo Genes that share disorders with TP53BP1: view

Publications for TP53BP1 Gene

  1. Two cellular proteins that bind to wild-type but not mutant p53. (PMID: 8016121) Iwabuchi K. … Fields S. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 23
  2. Stimulation of p53-mediated transcriptional activation by the p53- binding proteins, 53BP1 and 53BP2. (PMID: 9748285) Iwabuchi K. … Fields S. (J. Biol. Chem. 1998) 2 3 4 23
  3. Negative cell cycle regulation and DNA-damage inducible phosphorylation of the BRCT protein 53BP1. (PMID: 11042216) Xia Z. … Carpenter P.B. (J. Biol. Chem. 2001) 3 4 23
  4. 53BP1, a mediator of the DNA damage checkpoint. (PMID: 12364621) Wang B. … Elledge S.J. (Science 2002) 3 4 23
  5. A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. (PMID: 15574327) Riballo E. … Loebrich M. (Mol. Cell 2004) 3 4 23

Products for TP53BP1 Gene

  • antibodies-online proteins for TP53BP1
  • antibodies-online antibodies for TP53BP1
  • antibodies-online kits for TP53BP1

Sources for TP53BP1 Gene

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