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

    Gene ID: 7158, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:11999
    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
    mouse all
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    Genomic context

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    See TP53BP1 in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43403061..43510640, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41210396..41317991, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43695259..43802838, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9313 Neighboring gene zinc finger and SCAN domain containing 29 Neighboring gene tubulin gamma complex component 4 Neighboring gene RNA, 7SL, cytoplasmic 487, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:43734212-43734815 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:43769402-43769643 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:43784380-43785088 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:43785089-43785795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43787292-43787792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43810281-43810924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43819912-43820544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43821526-43822026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43822027-43822527 Neighboring gene microtubule associated protein 1A Neighboring gene diphosphoinositol pentakisphosphate kinase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Radiation-dose response of glycophorin A somatic mutation in erythrocytes associated with gene polymorphisms of p53 binding protein 1. Yoshida K, et al. Mutat Res, 2013 Jul 4. PMID 23680719
    2. Deficiency of 53BP1 inhibits the radiosensitivity of colorectal cancer. Xiao Y, et al. Int J Oncol, 2016 Oct. PMID 27499037
    3. The Association of Aging-Related Polymorphisms with Susceptibility to Lung Cancer: A Case-Control Study in a Japanese Population. Furuie H, et al. Asian Pac J Cancer Prev, 2021 Apr 1. PMID 33906323, Free PMC Article
    4. RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Stewart GS, et al. Proc Natl Acad Sci U S A, 2007 Oct 23. PMID 17940005, Free PMC Article
    5. Nuclear localisation of 53BP1 is regulated by phosphorylation of the nuclear localisation signal. von Morgen P, et al. Biol Cell, 2018 Jun. PMID 29603287

    See all (448) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation of the DNA damage repair factor 53BP1 by ATM kinase controls neurodevelopmental programs in cortical brain organoids.
      Title: Phosphorylation of the DNA damage repair factor 53BP1 by ATM kinase controls neurodevelopmental programs in cortical brain organoids.
    2. 53BP1 loss elicits cGAS-STING-dependent antitumor immunity in ovarian and pancreatic cancer.
      Title: 53BP1 loss elicits cGAS-STING-dependent antitumor immunity in ovarian and pancreatic cancer.
    3. Evolved histone tail regulates 53BP1 recruitment at damaged chromatin.
      Title: Evolved histone tail regulates 53BP1 recruitment at damaged chromatin.
    4. BRCA1 and 53BP1 regulate reprogramming efficiency by mediating DNA repair pathway choice at replication-associated double-strand breaks.
      Title: BRCA1 and 53BP1 regulate reprogramming efficiency by mediating DNA repair pathway choice at replication-associated double-strand breaks.
    5. The dimeric deubiquitinase USP28 integrates 53BP1 and MYC functions to limit DNA damage.
      Title: The dimeric deubiquitinase USP28 integrates 53BP1 and MYC functions to limit DNA damage.
    6. Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
      Title: Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
    7. Control of cell proliferation by memories of mitosis.
      Title: Control of cell proliferation by memories of mitosis.
    8. Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging.
      Title: Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging.
    9. PLK1 promotes the mitotic surveillance pathway by controlling cytosolic 53BP1 availability.
      Title: PLK1 promotes the mitotic surveillance pathway by controlling cytosolic 53BP1 availability.
    10. DNA repair and antibody diversification: the 53BP1 paradigm.
      Title: DNA repair and antibody diversification: the 53BP1 paradigm.
    Submit: New GeneRIF Correction See all GeneRIFs (253)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41424, MGC138366

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables telomeric DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription coregulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ubiquitin-modified histone reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to X-ray IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via classical nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of isotype switching IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of isotype switching IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA repair complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in replication fork IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    NEW Try the new Transcript table

    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_001141979.3 → NP_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, BM993890, BP228994
      Consensus CDS
      CCDS45251.1
      UniProtKB/TrEMBL
      B7Z3E7
      Related
      ENSP00000393497.2, ENST00000450115.6
      Conserved Domains (3) summary
      smart00292
      Location:1869 → 1954
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:1772 → 1839
      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:1488 → 1609
      53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor

    2. NM_001141980.3 → NP_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, BM993890, BP228994, BX537418
      Consensus CDS
      CCDS45250.1
      UniProtKB/TrEMBL
      B7Z3E7
      Related
      ENSP00000371475.5, ENST00000382044.9
      Conserved Domains (3) summary
      smart00292
      Location:1871 → 1956
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:1774 → 1841
      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:1488 → 1609
      53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor

    3. NM_001355001.2 → NP_001341930.1  TP53-binding protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC018924, AF078776, BM993890, BP228994, BX537418
      Conserved Domains (3) summary
      smart00292
      Location:911 → 996
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:814 → 881
      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:528 → 649
      53-BP1_Tudor; tumor suppressor p53-binding protein-1 Tudor

    4. NM_001411050.1 → NP_001397979.1  TP53-binding protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC018924
      Consensus CDS
      CCDS91987.1
      UniProtKB/TrEMBL
      A6NNK5, B7Z3E7
      Related
      ENSP00000371470.3, ENST00000382039.7

    5. NM_005657.4 → NP_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
      F8VY86, Q12888, Q2M1Z7, Q4LE46, Q5FWZ3, Q7Z3U4
      UniProtKB/TrEMBL
      B7Z3E7
      Related
      ENSP00000263801.3, ENST00000263801.7
      Conserved Domains (3) summary
      smart00292
      Location:1866 → 1951
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:1769 → 1836
      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:1483 → 1604
      53-BP1_Tudor; Tumour suppressor p53-binding protein-1 Tudor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43403061..43510640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432994.1 → XP_047288950.1  TP53-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z3E7

    2. XM_047432995.1 → XP_047288951.1  TP53-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z3E7

    3. XM_047432998.1 → XP_047288954.1  TP53-binding protein 1 isoform X3

      UniProtKB/TrEMBL
      B7Z3E7

    4. XM_047432997.1 → XP_047288953.1  TP53-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B7Z3E7

    5. XM_047432999.1 → XP_047288955.1  TP53-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      C9JXV0
      Related
      ENSP00000388028.1, ENST00000413546.1

    RNA

    1. XR_007064488.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41210396..41317991 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378735.1 → XP_054234710.1  TP53-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z3E7

    2. XM_054378736.1 → XP_054234711.1  TP53-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z3E7

    3. XM_054378738.1 → XP_054234713.1  TP53-binding protein 1 isoform X3

      UniProtKB/TrEMBL
      B7Z3E7

    4. XM_054378737.1 → XP_054234712.1  TP53-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B7Z3E7

    5. XM_054378739.1 → XP_054234714.1  TP53-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      C9JXV0

    RNA

    1. XR_008489009.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12888.2 GenPept UniProtKB/Swiss-Prot:Q12888

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