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Aliases & Descriptions for TP53BP1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases 53BP1 1 , 2 , 3 , 5 FLJ41424 2 MGC138366 2 p202 1 , 2 p53BP1 3
Descriptions p53-binding protein 1 3 tumor protein 53-binding protein, 1 2 tumor protein p53 binding protein 1 2 tumor protein p53-binding protein, 1 1 , 2
Search outside databases for aliases for TP53BP1 genePrevious GC identifers: GC15M039066 GC15M036595 GC15M041278 GC15M041415
Summaries for TP53BP1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888 Function : May have a role in checkpoint signaling during mitosis (By similarity). EnhancesTP53-mediated transcriptional activation. Plays a role in the response to DNA damage
Gene Wiki entry for TP53BP1
Genomic Location for TP53BP1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TP53BP1 gene Entrez Gene cytogenetic band: 15q15-q21 Ensembl cytogenetic band: 15q15.3 HGNC cytogenetic band: 15q15-q21 TP53BP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15M041486:
(about GC identifiers )
Start:
41,486,699 bp from pter
End:
41,590,028 bp from pter
Size:
103,330 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000015.8 NT_010194.16 Proteins for TP53BP1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888 (See
protein sequence )Recommended Name: Tumor suppressor p53-binding protein 1 Size : 1972 amino acids; 213574 Da
Subunit : Interacts with IFI202A (By similarity). Binds to the central domain of TP53/p53. May formhomo-oligomers. Interacts with DCLRE1C. Interacts with histone H2AFX and this requiresphosphorylation of H2AFX on 'Ser-139'. Interacts with histone H4 that has been dimethylated at'Lys-20'. Has low affinity for histone H4 containing monomethylated 'Lys-20'. Does not bindhistone H4 containing unmethylated or trimethylated 'Lys-20'. Has low affinity for histone H3 thathas been dimethylated on 'Lys-79'. Has very low affinity for histone H3 that has beenmonomethylated on 'Lys-79' (in vitro). Does not bind unmethylated histone H3
Subcellular location : Nucleus. Kinetochore. Note=Associated with kinetochores. Both nuclear andcytoplasmic in some cells. Recruited to sites of DNA damage, such as double stand breaks.Methylation of histone H4 at 'Lys-20' is required for efficient localization to double strandbreaks
PDB structures from and Proteopedia : 1GZH (3D)
 1KZY (3D)
 1XNI (3D)
 2G3R (3D)
 2IG0 (3D)
 
Secondary accessions : Q2M1Z7 Q4LE46 Q5FWZ3 Q7Z3U4Alternative splicing : 2 isoforms : Q12888-1 Q12888-2
Post-translational modifications:
Asymmetrically dimethylated on Arg residues by PRMT1. Methylation is required for DNA binding1
Phosphorylated at basal level in the absence of DNA damage. Hyper-phosphorylated in anATM-dependent manner in response to DNA damage induced by ionizing radiation. Hyper-phosphorylatedin an ATR-dependent manner in response to DNA damage induced by UV irradiation1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001135451.1 NP_001135452.1 NP_005648.1 ENSEMBL proteins: ENSP00000371470 ENSP00000263801 ENSP00000384078 ENSP00000371475 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for TP53BP1: Assays for TP53BP1:
Protein
Domains/ Families for TP53BP1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q12888 ProtoNet protein and cluster: Q12888
1 Blocks protein family : IPB001357 BRCT domain UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888 Similarity : Contains 2 BRCT domains
Gene Function for TP53BP1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (TP53BP1 ) Millipore RNAi Products for the Analysis of TP53BP1 Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (TP53BP1 )
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_005657 Applied Biosystems Silencer ® siRNAs for TP53BP1 Sigma-Aldrich siRNA for TP53BP1 Sigma-Aldrich shRNA Panels and shRNA for TP53BP1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001141979                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001141979                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001141979  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001141980 UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888 Function : May have a role in checkpoint signaling during mitosis (By similarity). EnhancesTP53-mediated transcriptional activation. Plays a role in the response to DNA damage
Genatlas biochemistry entry for TP53BP1 :TP53 binding protein 1,nuclear and cytoplasmic not binding mutant TP53
6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Trp53bp1) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for TP53BP1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for TP53BP1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for TP53BP1 5/28 Interacting proteins for TP53BP1 (Q12888 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 28
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for TP53BP1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for TP53BP1 7 Novoseek chemical compound relationships for TP53BP1 gene
About this table
Transcripts for TP53BP1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (TP53BP1 ) Millipore RNAi Products for the Analysis of TP53BP1 Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (TP53BP1 )
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_005657 Sigma-Aldrich siRNA for TP53BP1 Sigma-Aldrich shRNA Panels and shRNA for TP53BP1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001141979 NM_001141980 NM_005657
REFSEQ mRNAs for TP53BP1 gene (3 alternative transcripts): NM_001141979.1 NM_001141980.1 NM_005657.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001141979 NM_001141980 NM_005657
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001141979                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001141979                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001141979  
Additional cDNA sequence: AB210025.1 AF078776.1 AK123418.1 AK292915.1 AK295764.1 AK307405.1 BC017846.1 BC063119.1 BC112161.1 BX537418.1 DQ102772.1 U09477.1
17 DOTS entries : DT.95301122 DT.40258937 DT.40116929 DT.121049061 DT.97794060 DT.75133574 DT.92439720 DT.75141971 DT.91680834 DT.75133335 DT.95360903 DT.97811257 DT.102831478 DT.95150757 DT.95358247 DT.91814478 DT.95337473
24/287 AceView cDNA sequences (see all 287
):BQ683784 BQ900363 AF078776 NM_005657 BU684930 BG252079 BQ876960 AW029221 AI923372 BU542194 BM793263 BC017846 AW372650 BQ671093 AL699447 AA334786 AA235833 AA406444 BM926929 AW372648 AI417874 BP368782 CA313822 BM677886
highest scoring ESTs for TP53BP1 :AF078776 AA062699 AA069347 AA069382 AA235833 AA334786 AA406444 AA410461 AA442066 AA442170
Unigene Cluster for TP53BP1: Tumor protein p53 binding protein 1 Hs.440968 [show with all ESTs ] Unigene Representative Sequence: AF078776 GeneLoc Exon Structure 5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TP53BP1 (see all 11
) 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 :                                                    
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 :                 -                      
About this scheme ECgene alternative splicing isoforms for TP53BP1 4 Ensembl transcripts including schematic representations : ENST00000382039
ENST00000263801
ENST00000404183
ENST00000382044
Expression for TP53BP1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TP53BP1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TP53BP1 1 / 2 / 3
5 probe-sets matching TP53BP1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GATCTTGTATSOURCE GeneReport for Unigene cluster: Hs.440968 Expression variation in blood from EXPOLDB for TP53BP1
Orthologs for TP53BP1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TP53BP1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for TP53BP1 ENSEMBL Gene Tree for TP53BP1 Paralogs for TP53BP1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for TP53BP1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TP53BP1 (up to first 250kb)
Disorders & Mutations for TP53BP1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 605230 10/15 Novoseek disease relationships for TP53BP1 gene (see all 15
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia
79.45
17
14695167 (2), 12697768 (1), 15279780 (1), 11801725 (1) (see all 12 )
retinoblastoma
46.09
7
7890747 (2), 9233764 (1), 8524315 (1), 9766636 (1) (see all 6 )
cancer
36.71
18
12447382 (2), 17546051 (2), 15856006 (1), 17143500 (1) (see all 12 )
tumors
28.64
41
17637749 (3), 12884364 (3), 10646849 (3), 17522062 (3) (see all 21 )
chromosomal aberrations
19.36
2
17591918 (1), 18804090 (1)
breast cancer
8.40
10
10646849 (4), 14978302 (1), 16314399 (1), 18006705 (1) (see all 6 )
necrosis
4.20
3
10646849 (3)
metastasis
4.02
1
11585747 (1)
shock
0.00
1
15768430 (1)
melanoma
0.00
3
15816840 (1), 17932567 (1)
About this table Human Gene Mutation Database : TP53BP1 Genetic Association Database: TP53BP1 Human Genome Epidemiology Navigator: TP53BP1 (5 documents)
Medical News for TP53BP1 (Possibly Related Articles in
Doctor's Guide )
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Publications for TP53BP1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/207 PubMed articles for TP53BP1 gene (see all 207
): Stimulation of p53-mediated transcriptional activation by the p53-binding proteins, 53BP1 and 53BP2. (PubMed id 9748285) 1, 2, 3, 4 Iwabuchi K....Fields S. (1998) Two cellular proteins that bind to wild-type but not mutant p53. (PubMed id 8016121) 1, 2, 3, 4 Iwabuchi K....Fields S. (1994) The GAR motif of 53BP1 is arginine methylated by PRMT1 and is necessary for 53BP1 DNA binding activity. (PubMed id 16294045) 1, 3, 4 Boisvert F.-M.... Doherty A.J. (2005) 53BP1 oligomerization is independent of its methylation by PRMT1. (PubMed id 16294047) 1, 3, 4 Adams M.M.... Carpenter P.B. (2005) Negative cell cycle regulation and DNA-damage inducible phosphorylation of the BRCT protein 53BP1. (PubMed id 11042216) 1, 3, 4 Xia Z.... Carpenter P.B. (2001) Joint effects of single nucleotide polymorphisms in P53BP1 and p53 on breast cancer risk in a Chinese population. (PubMed id 16314399) 1, 3, 6 Ma H....Shen H. (2006) A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. (PubMed id 15574327) 1, 3, 4 Riballo E.... Loebrich M. (2004) MDC1 is a mediator of the mammalian DNA damage checkpoint. (PubMed id 12607005) 1, 3, 4 Stewart G.S....Elledge S.J. (2003) Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure. (PubMed id 11877378) 1, 3, 4 Joo W.S....Pavletich N.P. (2002) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332) 3, 4 Matsuoka S.... Elledge S.J. (2007)
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Genome Databases showing TP53BP1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TP53BP1
(According to HUGE )
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Specialized Databases showing TP53BP1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for TP53BP1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for TP53BP1:
Antibodies & Assays for TP53BP1   (53BP1)
Search Tocris compounds for TP53BP1
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Aliases for TP53BP1
Databases for TP53BP1
Disorders for TP53BP1
Domains/Families for TP53BP1
Drugs/Compounds for TP53BP1
Expression for TP53BP1
Function for TP53BP1
Location for TP53BP1
Medical News for TP53BP1
Orthologs for TP53BP1
Paralogs for TP53BP1
Pathways/Interactions for TP53BP1
Proteins for TP53BP1
Publications for TP53BP1
SNPs for TP53BP1
Search Box for TP53BP1
Services for TP53BP1
Summaries for TP53BP1
Technologies for TP53BP1
Transcripts for TP53BP1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009