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TP53BP1 (tumor protein p53 binding protein 1)

Identity

Other names53BP1
p202
HGNC (Hugo) TP53BP1
LocusID (NCBI) 7158
Location 15q15.3
Location_base_pair Starts at 43699412 and ends at 43785354 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)TP53BP1   11999
Cards
Entrez_Gene (NCBI)TP53BP1  7158  tumor protein p53 binding protein 1
GeneCards (Weizmann)TP53BP1
Ensembl (Hinxton)ENSG00000067369 [Gene_View]  chr15:43699412-43785354 [Contig_View]  TP53BP1 [Vega]
ICGC DataPortalENSG00000067369
cBioPortalTP53BP1
AceView (NCBI)TP53BP1
Genatlas (Paris)TP53BP1
WikiGenes7158
SOURCE (Princeton)NM_001141979 NM_001141980 NM_005657
Genomic and cartography
GoldenPath (UCSC)TP53BP1  -  15q15.3   chr15:43699412-43785354 -  15q15.3   [Description]    (hg19-Feb_2009)
EnsemblTP53BP1 - 15q15.3 [CytoView]
Mapping of homologs : NCBITP53BP1 [Mapview]
OMIM605230   
Gene and transcription
Genbank (Entrez)AB210025 AF078776 AK123418 AK125173 AK292915
RefSeq transcript (Entrez)NM_001141979 NM_001141980 NM_005657
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NT_010194 NW_001838214 NW_004929398
Consensus coding sequences : CCDS (NCBI)TP53BP1
Cluster EST : UnigeneHs.584887 [ NCBI ]
CGAP (NCI)Hs.584887
Alternative Splicing : Fast-db (Paris)GSHG0010365
Alternative Splicing GalleryENSG00000067369
Gene ExpressionTP53BP1 [ NCBI-GEO ]     TP53BP1 [ SEEK ]   TP53BP1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12888 (Uniprot)
NextProtQ12888  [Medical]
With graphics : InterProQ12888
Splice isoforms : SwissVarQ12888 (Swissvar)
Domaine pattern : Prosite (Expaxy)BRCT (PS50172)   
Domains : Interpro (EBI)53-BP1_Tudor [organisation]   BRCT_dom [organisation]   Rib_L2_dom2 [organisation]  
Related proteins : CluSTrQ12888
Domain families : Pfam (Sanger)53-BP1_Tudor (PF09038)   
Domain families : Pfam (NCBI)pfam09038   
Domain families : Smart (EMBL)BRCT (SM00292)  
DMDM Disease mutations7158
Blocks (Seattle)Q12888
PDB (SRS)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    3LGF    3LGL    3LH0   
PDB (PDBSum)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    3LGF    3LGL    3LH0   
PDB (IMB)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    3LGF    3LGL    3LH0   
PDB (RSDB)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    3LGF    3LGL    3LH0   
Human Protein AtlasENSG00000067369 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ12888
HPRD05569
IPIIPI00029778   IPI00742743   IPI00657708   IPI00657704   IPI00853388   IPI00853439   IPI00877813   IPI00894549   IPI00892902   
Protein Interaction databases
DIP (DOE-UCLA)Q12888
IntAct (EBI)Q12888
FunCoupENSG00000067369
BioGRIDTP53BP1
InParanoidQ12888
Interologous Interaction database Q12888
IntegromeDBTP53BP1
STRING (EMBL)TP53BP1
Ontologies - Pathways
Ontology : AmiGOdouble-strand break repair via homologous recombination  condensed chromosome kinetochore  chromosome, telomeric region  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription cofactor activity  p53 binding  damaged DNA binding  protein binding  nucleus  nucleoplasm  replication fork  cytoplasm  DNA repair  double-strand break repair  transcription from RNA polymerase II promoter  cellular response to DNA damage stimulus  methylated histone binding  telomeric DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of sequence-specific DNA binding transcription factor activity  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  condensed chromosome kinetochore  chromosome, telomeric region  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription cofactor activity  p53 binding  damaged DNA binding  protein binding  nucleus  nucleoplasm  replication fork  cytoplasm  DNA repair  double-strand break repair  transcription from RNA polymerase II promoter  cellular response to DNA damage stimulus  methylated histone binding  telomeric DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of sequence-specific DNA binding transcription factor activity  
Protein Interaction DatabaseTP53BP1
Wikipedia pathwaysTP53BP1
Gene fusion - rearrangments
Rearrangement : TICdbTP53BP1 [15q15.3]  -  PDGFRB [Xp11.23]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TP53BP1
snp3D : Map Gene to Disease7158
SNP (GeneSNP Utah)TP53BP1
SNP : HGBaseTP53BP1
Genetic variants : HAPMAPTP53BP1
Exome VariantTP53BP1
1000_GenomesTP53BP1 
ICGC programENSG00000067369 
Somatic Mutations in Cancer : COSMICTP53BP1 
CONAN: Copy Number AnalysisTP53BP1 
Mutations and Diseases : HGMDTP53BP1
Mutations and Diseases : intOGenTP53BP1
Genomic VariantsTP53BP1  TP53BP1 [DGVbeta]
dbVarTP53BP1
ClinVarTP53BP1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM605230   
MedgenTP53BP1
GENETestsTP53BP1
Disease Genetic AssociationTP53BP1
Huge Navigator TP53BP1 [HugePedia]  TP53BP1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneTP53BP1
Homology/Alignments : Family Browser (UCSC)TP53BP1
Phylogenetic Trees/Animal Genes : TreeFamTP53BP1
Chemical/Protein Interactions : CTD7158
Chemical/Pharm GKB GenePA36680
Clinical trialTP53BP1
Cancer Resource (Charite)ENSG00000067369
Other databases
Probes
Litterature
PubMed179 Pubmed reference(s) in Entrez
CoreMineTP53BP1
iHOPTP53BP1
OncoSearchTP53BP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 17:08:22 CEST 2014

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