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

Gene ID: 7158, updated on 6-Jan-2019

Summary

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 MIM:605230
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p202; 53BP1; TDRD30; p53BP1
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 10.8), testis (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See TP53BP1 in Genome Data Viewer
Location:
15q15.3
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (43403064..43510728, 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 RNA, 7SL, cytoplasmic 487, pseudogene Neighboring gene microtubule associated protein 1A Neighboring gene diphosphoinositol pentakisphosphate kinase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • ATM Signaling Network in Development and Disease, organism-specific biosystem (from WikiPathways)
    ATM Signaling Network in Development and Disease, organism-specific biosystemThis pathway is modeled after Figure 4 in the article "The ATM signaling network in development and disease" (See Bibliography). When DNA is damaged, DDR begins to work on recuperating the damage th...
  • ATM Signaling Pathway, organism-specific biosystem (from WikiPathways)
    ATM Signaling Pathway, organism-specific biosystemAtaxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation o...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA 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...
  • 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. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of transcription factors, organism-specific biosystem (from REACTOME)
    SUMOylation of transcription factors, organism-specific biosystemProteins classified as transcription factors constitute a disproportionate number of SUMOylation targets. In most cases SUMOylation inhibits transcriptional activation, however in some cases such as ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
damaged DNA binding IEA
Inferred from Electronic Annotation
more info
 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
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
 
transcription coregulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin modification-dependent histone binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
DNA repair complex IEA
Inferred from Electronic Annotation
more info
 
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 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
replication fork IEA
Inferred from Electronic Annotation
more info
 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TP53-binding protein 1
Names
p53-binding protein 1
tumor protein 53-binding protein, 1
tumor suppressor p53-binding protein 1

NCBI Reference Sequences (RefSeq)

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_001141979.2NP_001135451.1  TP53-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001135451.1

    Status: REVIEWED

    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, AC018924, BC063119, BM993890, BP228994
    Consensus CDS
    CCDS45251.1
    UniProtKB/Swiss-Prot
    Q12888
    Related
    ENSP00000393497.2, ENST00000450115.6
    Conserved Domains (3) summary
    smart00292
    Location:18691954
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:17721839
    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 ...
    pfam09038
    Location:14881609
    53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor
  2. NM_001141980.2NP_001135452.1  TP53-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001135452.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC018924, AF078776, BC063119, BM993890, BP228994, BX537418
    Consensus CDS
    CCDS45250.1
    UniProtKB/Swiss-Prot
    Q12888
    Related
    ENSP00000371475.4, ENST00000382044.8
    Conserved Domains (3) summary
    smart00292
    Location:18711956
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:17741841
    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 ...
    pfam09038
    Location:14881609
    53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor
  3. NM_001355001.1NP_001341930.1  TP53-binding protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC018924, AF078776, BC063119, BM993890, BP228994, BX537418
    Conserved Domains (3) summary
    smart00292
    Location:911996
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:814881
    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 ...
    pfam09038
    Location:528649
    53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor
  4. NM_005657.3NP_005648.1  TP53-binding protein 1 isoform 3

    See identical proteins and their annotated locations for NP_005648.1

    Status: REVIEWED

    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)
    AC018924, AF078776, BM993890, DA003995
    Consensus CDS
    CCDS10096.1
    UniProtKB/Swiss-Prot
    Q12888
    Related
    ENSP00000263801.3, ENST00000263801.7
    Conserved Domains (3) summary
    smart00292
    Location:18661951
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:17691836
    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 ...
    pfam09038
    Location:14831604
    53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    43403064..43510728 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521985.2XP_011520287.1  TP53-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    A6NNK5
    Related
    ENSP00000371470.3, ENST00000382039.7
    Conserved Domains (3) summary
    smart00292
    Location:18211906
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:17241791
    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 ...
    pfam09038
    Location:14381559
    53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor
  2. XM_011521986.3XP_011520288.1  TP53-binding protein 1 isoform X2

    Conserved Domains (1) summary
    pfam09038
    Location:14881609
    53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor

RNA

  1. XR_001751382.2 RNA Sequence

  2. XR_931899.2 RNA Sequence

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