Seroatlas · Human Serome Atlas

TP53BP1

TP53-binding protein 1

Also known as: 53BP1, p202, TDRD30, TP53B_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q12888
Gene: TP53BP1
Ensembl: ENSG00000067369
Chromosome: 15
Canonical length: 1972 aa
Protein class: Cancer-related genes, Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1972 residues, UniProt reviewed canonical sequence.

>Q12888|TP53BP1
     1  MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD
    61  VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV
   121  LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD
   181  VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA
   241  QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL
   301  STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS
   361  DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SGEPVELENP
   421  PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM
   481  HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG
   541  ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL
   601  ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS
   661  GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET
   721  SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK
   781  CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA
   841  DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS
   901  ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM
   961  VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST
  1021  AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD
  1081  HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNKENPS
  1141  KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER
  1201  GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV
  1261  DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS
  1321  LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD
  1381  AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV
  1441  PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY
  1501  FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG
  1561  HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD
  1621  NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA
  1681  KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT
  1741  TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY
  1801  QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL
  1861  DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV
  1921  VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TP53BP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 23 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 23 nTPM
parathyroid gland: 21 nTPM
retina: 20 nTPM
testis: 20 nTPM
thyroid gland: 17 nTPM
cerebellum: 17 nTPM

Single-cell type

lactotrophs: 329 nCPM
somatotrophs: 325 nCPM
thyrotrophs: 300 nCPM
choroid plexus epithelial cells: 222 nCPM
gonadotrophs: 215 nCPM
retinal horizontal cells: 212 nCPM

Immune cell

memory B-cell: 1.9 nTPM
naive B-cell: 1.8 nTPM
naive CD4 T-cell: 1.8 nTPM
gdT-cell: 1.6 nTPM
memory CD4 T-cell: 1.6 nTPM
memory CD8 T-cell: 1.6 nTPM

Brain region

hypothalamus: 82 nTPM
choroid plexus: 71 nTPM
cerebellum: 66 nTPM
midbrain: 62 nTPM
basal ganglia: 62 nTPM
pons: 60 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.25
gnomAD pLI: 1
gnomAD missense Z: 1.88
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

BRCT domain
Large ribosomal subunit protein uL2, domain 2
BRCT domain superfamily
Tumour suppressor p53-binding protein-1, Tudor domain
TP53-binding protein 1-like, first BRCT domain
TP53-binding protein 1-like, second BRCT domain
TP53-binding protein 1-like
Tumour suppressor p53-binding protein-1 Tudor
BRCA1 C Terminus (BRCT) domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TP53BP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TP53BP1 as an antibody target. Whether an autoantibody or antibody against TP53BP1 could matter depends on whether native TP53BP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TP53BP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TP53BP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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