Q12888

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession TP53B_HUMAN; Q12888;
Entrez ID 7158
GenBank Protein ID NM_001141979.1; NM_001141980.1; NM_005657.2;
GenBank Nucleotide ID NP_001135451.1; NP_001135452.1; NP_005648.1;
Protein Name TP53-binding protein 1 (53BP1) (p53-binding protein 1) (p53BP1)
Gene Name TP53BP1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionDouble-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:22553214, PubMed:23333306, PubMed:17190600, PubMed:21144835, PubMed:28241136). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:(view all)
Sequence
(Fasta)
MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD 60
VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV 120
LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD 180
VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA 240
QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL 300
STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS 360
DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SGEPVELENP 420
PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM 480
HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG 540
ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL 600
ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS 660
GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET 720
SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK 780
CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA 840
DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS 900
ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM 960
VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST 1020
AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD 1080
HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNKENPS 1140
KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER 1200
GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV 1260
DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS 1320
LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD 1380
AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV 1440
PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY 1500
FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG 1560
HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD 1620
NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA 1680
KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT 1740
TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY 1800
QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL 1860
DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV 1920
VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH 1973

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationAtaxia-telangiectasic cancerDS2519876065
[Reference]: ATM-dependent phosphorylation of 53BP1 on serines 25 and 1778 (53BP1S25P and 53BP1S1778P) occurs at these DNA damage foci. 53BP1S25P was also detected in syncytia present in the lymph nodes or frontal brain sections from HIV-1-infected carriers, as well as in peripheral blood mononucleated cells from HIV-1-infected individuals, correlating with viral load.?
2Serine PhosphorylationRiddle syndromeUS177817940005
[Reference]: RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.

※ Disease Cross-ref Annotation

DatabaseAnnotation
GWASdb
(count: 10)
(view all)
rs16957715; Coronary heart disease; coronary artery disease
rs2602141; Parkinson's disease; Parkinson's disease
rs12899865; Coronary heart disease; coronary artery disease
rs690367; Tumor biomarkers; squamous cell carcinoma|pancreatic cancer|esophageal cancer|hepatocellular carcinoma
rs2439832; Attention deficit hyperactivity disorder; attention deficit hyperactivity disorder
rs17782975; Parkinson's disease; Parkinson's disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 264)
(view all)
100       VDSSNLDTCGSISQV     dbPAF
1002      ETEASEESLQFNLEK     dbPAF
1012      FNLEKPATGERKNGS     dbPAF
1019      TGERKNGSTAVAESV     dbPAF
1020      GERKNGSTAVAESVA     dbPAF
1025      GSTAVAESVASPQKT     dbPAF
Acetylation
(count: 19)
(view all)
1009      SLQFNLEKPATGERK     PLMD
1141      TNKENPSKALIERPS     PLMD
1191      TVDQNFGKQDATVQT     PLMD
1332      HSSGSSGKGAGPLRG     PLMD
1360      SSRGGPGKLSPRKGV     PLMD
1494      VGLRVVAKWSSNGYF     PLMD
Ubiquitination
(count: 21)
(view all)
1009      SLQFNLEKPATGERK     PLMD
1191      TVDQNFGKQDATVQT     PLMD
1268      DGTEVERKVTEETEE     PLMD
1308      DISSFSSKASSLHRT     PLMD
1340      GAGPLRGKTSGTEPA     PLMD
1365      PGKLSPRKGVSQTGT     PLMD
Sumoylation
(count: 7)
(view all)
1365      PGKLSPRKGVSQTGT     PLMD
1434      PNLSPDDKSFSRVVP     PLMD
1563      GVVKGHRKESGELYY     PLMD
217       VDANTAIKHEEQSNE     PLMD
868       NSLTEDSKMANAKQL     PLMD
930       PPLIGHLKLEPKRHS     PLMD
Malonylation
(count: 1)
1332      HSSGSSGKGAGPLRG     PLMD
Methylation
(count: 3)
1175      SAATQTIKNVCEQGT     PLMD
135       APAVEEEKGEELEQK     PLMD
1626      LDNLVEGKRKRRSNV     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource