• Gene id: 7158

Gene Summary

• Gene Symbol: TP53BP1   Gene   UCSC   Ensembl
• Aliases: 53BP1, TDRD30, p202, p53BP1
• Gene name: tumor protein p53 binding protein 1
• Alternate names: TP53-binding protein 1, p53-binding protein 1, tumor protein 53-binding protein, 1, tumor suppressor p53-binding protein 1,
• Gene location: 15q15.3 (43510639: 43403060)     Exons: 32     NC_000015.10
• Gene summary(Entrez): 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, inc
• OMIM: 605230

Protein Summary

• Protein general information: Q12888  
  • Name: TP53 binding protein 1 (53BP1) (p53 binding protein 1) (p53BP1)
  • Length: 1972  
  • Mass: 213574
• Sequence:

  MDPTGSQLDSDFSQQDTPCLIIEDSQPESQVLEDDSGSHFSMLSRHLPNLQTHKENPVLDVVSNPEQTAGEERGD
  GNSGFNEHLKENKVADPVDSSNLDTCGSISQVIEQLPQPNRTSSVLGMSVESAPAVEEEKGEELEQKEKEKEEDT
  SGNTTHSLGAEDTASSQLGFGVLELSQSQDVEENTVPYEVDKEQLQSVTTNSGYTRLSDVDANTAIKHEEQSNED
  IPIAEQSSKDIPVTAQPSKDVHVVKEQNPPPARSEDMPFSPKASVAAMEAKEQLSAQELMESGLQIQKSPEPEVL
  STQEDLFDQSNKTVSSDGCSTPSREEGGCSLASTPATTLHLLQLSGQRSLVQDSLSTNSSDLVAPSPDAFRSTPF
  IVPSSPTEQEGRQDKPMDTSVLSEEGGEPFQKKLQSGEPVELENPPLLPESTVSPQASTPISQSTPVFPPGSLPI
  PSQPQFSHDIFIPSPSLEEQSNDGKKDGDMHSSSLTVECSKTSEIEPKNSPEDLGLSLTGDSCKLMLSTSEYSQS
  PKMESLSSHRIDEDGENTQIEDTEPMSPVLNSKFVPAENDSILMNPAQDGEVQLSQNDDKTKGDDTDTRDDISIL
  ATGCKGREETVAEDVCIDLTCDSGSQAVPSPATRSEALSSVLDQEEAMEIKEHHPEEGSSGSEVEEIPETPCESQ
  GEELKEENMESVPLHLSLTETQSQGLCLQKEMPKKECSEAMEVETSVISIDSPQKLAILDQELEHKEQEAWEEAT
  SEDSSVVIVDVKEPSPRVDVSCEPLEGVEKCSDSQSWEDIAPEIEPCAENRLDTKEEKSVEYEGDLKSGTAETEP
  VEQDSSQPSLPLVRADDPLRLDQELQQPQTQEKTSNSLTEDSKMANAKQLSSDAEAQKLGKPSAHASQSFCESSS
  ETPFHFTLPKEGDIIPPLTGATPPLIGHLKLEPKRHSTPIGISNYPESTIATSDVMSESMVETHDPILGSGKGDS
  GAAPDVDDKLCLRMKLVSPETEASEESLQFNLEKPATGERKNGSTAVAESVASPQKTMSVLSCICEARQENEARS
  EDPPTTPIRGNLLHFPSSQGEEEKEKLEGDHTIRQSQQPMKPISPVKDPVSPASQKMVIQGPSSPQGEAMVTDVL
  EDQKEGRSTNKENPSKALIERPSQNNIGIQTMECSLRVPETVSAATQTIKNVCEQGTSTVDQNFGKQDATVQTER
  GSGEKPVSAPGDDTESLHSQGEEEFDMPQPPHGHVLHRHMRTIREVRTLVTRVITDVYYVDGTEVERKVTEETEE
  PIVECQECETEVSPSQTGGSSGDLGDISSFSSKASSLHRTSSGTSLSAMHSSGSSGKGAGPLRGKTSGTEPADFA
  LPSSRGGPGKLSPRKGVSQTGTPVCEEDGDAGLGIRQGGKAPVTPRGRGRRGRPPSRTTGTRETAVPGPLGIEDI
  SPNLSPDDKSFSRVVPRVPDSTRRTDVGAGALRRSDSPEIPFQAAAGPSDGLDASSPGNSFVGLRVVAKWSSNGY
  FYSGKITRDVGAGKYKLLFDDGYECDVLGKDILLCDPIPLDTEVTALSEDEYFSAGVVKGHRKESGELYYSIEKE
  GQRKWYKRMAVILSLEQGNRLREQYGLGPYEAVTPLTKAADISLDNLVEGKRKRRSNVSSPATPTASSSSSTTPT
  RKITESPRASMGVLSGKRKLITSEEERSPAKRGRKSATVKPGAVGAGEFVSPCESGDNTGEPSALEEQRGPLPLN
  KTLFLGYAFLLTMATTSDKLASRSKLPDGPTGSSEEEEEFLEIPPFNKQYTESQLRAGAGYILEDFNEAQCNTAY
  QCLLIADQHCRTRKYFLCLASGIPCVSHVWVHDSCHANQLQNYRNYLLPAGYSLEEQRILDWQPRENPFQNLKVL
  LVSDQQQNFLELWSEILMTGGAASVKQHHSSAHNKDIALGVFDVVVTDPSCPASVLKCAEALQLPVVSQEWVIQC
  LIVGERIGFKQHPKYKHDYVSH

• Structural information:
  • Protein Domains: (1724..184-)
    (/note="BRCT-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (1864..196-)
    (/note="BRCT-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033"-)
  • Interpro: IPR015125  IPR001357  IPR036420  IPR014722  
  • Prosite: PS50172
  • PDB: 1GZH 1KZY 1XNI 2G3R 2IG0 2LVM 2MWO 2MWP 3LGF 3LGL 3LH0 4CRI 4RG2 4X34 5ECG 5J26 5KGF 5Z78 5ZCJ 6CO1 6CO2 6IU7 6IUA 6MXX 6MXY 6MXZ 6MY0 6RML 6RMM
  • PDBsum: 1GZH 1KZY 1XNI 2G3R 2IG0 2LVM 2MWO 2MWP 3LGF 3LGL 3LH0 4CRI 4RG2 4X34 5ECG 5J26 5KGF 5Z78 5ZCJ 6CO1 6CO2 6IU7 6IUA 6MXX 6MXY 6MXZ 6MY0 6RML 6RMM
  • DIP: 5978
  • STRING: ENSP00000371475
• Other Databases: GeneCards:  TP53BP1  Malacards:  TP53BP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000077	DNA damage checkpoint	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0061649	ubiquitin modification-dependent histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035861	site of double-strand break	IDA	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0045830	positive regulation of isotype switching	IDA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045830	positive regulation of isotype switching	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000776	kinetochore	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990391	DNA repair complex	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0035064	methylated histone binding	IEA	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0071481	cellular response to X-ray	IEA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:0045830	positive regulation of isotype switching	IEA	biological process
GO:0042162	telomeric DNA binding	IEA	molecular function
GO:0035861	site of double-strand break	IEA	cellular component
GO:0016604	nuclear body	IEA	cellular component
GO:0005657	replication fork	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0000784	nuclear chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002039	p53 binding	IPI	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0003712	transcription coregulator activity	IMP	molecular function
GO:0000781	chromosome, telomeric region	IDA	colocalizes with
GO:0051091	positive regulation of DNA-binding transcription factor activity	IC	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Pulmonary hypertension	PMID:24270264
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray