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TP53BP1 tumor protein p53 binding protein 1 [ Homo sapiens (human) ]

Gene ID: 7158, updated on 11-Sep-2014
Official Symbol
TP53BP1provided by HGNC
Official Full Name
tumor protein p53 binding protein 1provided by HGNC
Primary source
HGNC:HGNC:11999
See related
Ensembl:ENSG00000067369; HPRD:05569; MIM:605230; Vega:OTTHUMG00000059757
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p202; 53BP1
See TP53BP1 in Epigenomics, MapViewer
Location:
15q15-q21
Exon count:
31
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (43407214..43510509, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43695262..43802707, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene zinc finger and SCAN domain containing 29 Neighboring gene tubulin, gamma complex associated protein 4 Neighboring gene microtubule-associated protein 1A Neighboring gene diphosphoinositol pentakisphosphate kinase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Knockdown of p53 binding protein-1 causes HIV-1 envelope-induced syncytia to enter abnormal mitoses PubMed
Vpr vpr Soluble HIV-1 Vpr induces a DNA damage response by forming H2AX- and 53BP1-containing DNA repair foci PubMed
vpr HIV-1 Vpr forms nuclear foci containing VPRBP and partially co-localizes with DNA repair foci components 53BP1 and phosphorylated RPA32 PubMed

Go to the HIV-1, Human Interaction Database

  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • Homologous Recombination Repair, organism-specific biosystem (from REACTOME)
    Homologous Recombination Repair, organism-specific biosystemThe HRR pathway is an "error free" DNA repair mechanism that utilizes information encoded by homologous sequence to repair double-strand breaks (DSBs). HRR acts on DSBs occurring within replicated DN...
  • Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystem (from REACTOME)
    Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystemHomologous recombination repair of replication-independent double-strand breaks requires the activation of ATM followed by ATM mediated phosphorylation of DNA repair proteins. DNA repair and signalin...
  • Recruitment of repair and signaling proteins to double-strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment of repair and signaling proteins to double-strand breaks, organism-specific biosystemFollowing exposure to ionizing radiation, a number of recombination/repair proteins and complexes relocalize to nuclear foci that are believed to correspond to the sites of double-strand breaks. Thes...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41424, MGC138366

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II transcription cofactor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
damaged DNA binding IEA
Inferred from Electronic Annotation
more info
 
methylated histone binding IDA
Inferred from Direct Assay
more info
 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
telomeric DNA binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
replication fork IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tumor suppressor p53-binding protein 1
Names
tumor suppressor p53-binding protein 1
p53BP1
p53-binding protein 1
tumor protein 53-binding protein, 1
tumor protein p53-binding protein, 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001141979.1NP_001135451.1  tumor suppressor p53-binding protein 1 isoform 2

    See proteins identical to NP_001135451.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.
    Source sequence(s)
    AB210025, BP228994, BX537418
    Consensus CDS
    CCDS45251.1
    UniProtKB/Swiss-Prot
    Q12888
    Related
    ENSP00000393497, OTTHUMP00000258022, ENST00000450115, OTTHUMT00000439646
    Conserved Domains (3) summary
    cd04508
    Location:14931537
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    pfam09038
    Location:14891608
    53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor
    cd00027
    Location:18741954
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
  2. NM_001141980.1NP_001135452.1  tumor suppressor p53-binding protein 1 isoform 1

    See proteins identical to NP_001135452.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF078776, BP228994, BX537418
    Consensus CDS
    CCDS45250.1
    UniProtKB/Swiss-Prot
    Q12888
    Related
    ENSP00000371470, OTTHUMP00000066117, ENST00000382039, OTTHUMT00000132899
    Conserved Domains (3) summary
    cd04508
    Location:14931537
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    pfam09038
    Location:14891608
    53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor
    cd00027
    Location:18761956
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
  3. NM_005657.2NP_005648.1  tumor suppressor p53-binding protein 1 isoform 3

    See proteins identical to NP_005648.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AF078776
    Consensus CDS
    CCDS10096.1
    UniProtKB/Swiss-Prot
    Q12888
    Related
    ENSP00000263801, OTTHUMP00000066116, ENST00000263801, OTTHUMT00000132897
    Conserved Domains (3) summary
    cd04508
    Location:14881532
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    pfam09038
    Location:14841603
    53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor
    cd00027
    Location:18711951
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    43407214..43510509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254634.2XP_005254691.1  

    See proteins identical to XP_005254691.1

    UniProtKB/Swiss-Prot
    Q12888
    Conserved Domains (3) summary
    cd04508
    Location:14881532
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    pfam09038
    Location:14841603
    53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor
    cd00027
    Location:18711951
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
  2. XM_005254635.2XP_005254692.1  

    Conserved Domains (3) summary
    cd04508
    Location:533577
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    pfam09038
    Location:529648
    53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor
    cd00027
    Location:916996
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
  3. XM_006720666.1XP_006720729.1  

    Conserved Domains (3) summary
    cd04508
    Location:456500
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    pfam09038
    Location:452571
    53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor
    cd00027
    Location:839919
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    20547443..20650644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    43818081..43921400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)