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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TP53BP1 Gene

protein-coding GIFtS: 64
GCID: GC15M043699

tumor protein p53 binding protein 1

(Previous names: tumor protein p53-binding protein, 1 )

Explore 39 diseases affiliated with
TP53BP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tumor Protein P53 Binding Protein 1¹ ²		P53-Binding Protein 1² ³
53BP1¹ ² ³ ⁵		P53BP1¹
P202¹		Tumor Protein 53-Binding Protein, 1²
Tumor Protein P53-Binding Protein, 1¹ ²		Tumor Suppressor P53-Binding Protein 1²

External Ids:	HGNC: 11999¹	Entrez Gene: 7158²	Ensembl: ENSG00000067369⁷	OMIM: 605230⁵	UniProtKB: Q12888³

Export aliases for TP53BP1 gene to outside databases

Previous GC identifers: GC15M039066 GC15M036595 GC15M041278 GC15M041415 GC15M041486 GC15M020547

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888

Function: Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis.

Enhances TP53-mediated transcriptional activation

Gene Wiki entry for TP53BP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TP53BP1 gene promoter:
GATA-3 MAZR AP-1 Bach2 ATF-2 Olf-1 Arnt C/EBPalpha AREB6 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TP53BP1 promoter sequence

Search SABiosciences Chromatin IP Primers for TP53BP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TP53BP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15-q21 Ensembl cytogenetic band: 15q15.3 HGNC cytogenetic band: 15q15-q21

TP53BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TP53BP1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M043699: view genomic region (about GC identifiers)

Start:	43,699,407 bp from pter	End:	43,802,926 bp from pter
Size:	103,520 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888 (See protein sequence)

Recommended Name: Tumor suppressor p53-binding protein 1

Size: 1972 amino acids; 213574 Da

Subunit: Interacts with IFI202A (By similarity). Binds to the central domain of p53/TP53. May form homooligomers.

Interacts with DCLRE1C. Interacts with histone H2AFX and this requires phosphorylation of H2AFX on 'Ser-139'.

Interacts with histone H4 that has been dimethylated at 'Lys-20' (H4K20me2). Has low affinity for histone H4

containing monomethylated 'Lys-20' (H4K20me1). Does not bind histone H4 containing unmethylated or trimethylated

'Lys-20' (H4K20me3). Has low affinity for histone H3 that has been dimethylated on 'Lys-79'. Has very low affinity for

histone H3 that has been monomethylated on 'Lys-79' (in vitro). Does not bind unmethylated histone H3. Interacts with

MUM1/EXPAND1. Interacts with CHEK2; modulates CHEK2 phosphorylation at 'Thr-68' in response to infrared. Interacts

with MSL1; this interaction may be required for MSL1 DNA repair activity, but not for histone acetyltransferase

activity

Subcellular location: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with kinetochores. Both nuclear and

cytoplasmic in some cells. Recruited to sites of DNA damage, such as double stand breaks. H4K20me2 is required for

efficient localization to double strand breaks and removal of proteins that have a high affinity for H4K20me2 such as

L3MBTL1 and KDM4A is needed

Sequence caution: Sequence=BAE06107.1; Type=Erroneous initiation;

6/9 PDB 3D structures from and Proteopedia for TP53BP1 (see all 9):

1GZH (3D)

1KZY (3D)

1XNI (3D)

2G3R (3D)

2IG0 (3D)

2LVM (3D)

Secondary accessions: Q2M1Z7 Q4LE46 Q5FWZ3 Q7Z3U4

Alternative splicing: 2 isoforms: Q12888-1 Q12888-2

Explore the universe of human proteins at neXtProt for TP53BP1: NX_Q12888

Post-translational modifications:

Asymmetrically dimethylated on Arg residues by PRMT1. Methylation is required for DNA binding¹

Phosphorylated at basal level in the absence of DNA damage. Hyper-phosphorylated in an ATM-dependent manner in response

to DNA damage induced by ionizing radiation. Hyper-phosphorylated in an ATR-dependent manner in response to DNA damage

induced by UV irradiation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q12888

TP53BP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001135451.1 NP_001135452.1 NP_005648.1

ENSEMBL proteins:

ENSP00000263801 ENSP00000413010 ENSP00000371470 ENSP00000371475 ENSP00000393497

ENSP00000416212 ENSP00000392048 ENSP00000398508 ENSP00000388028

Reactome Protein details: Q12888
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TP53BP1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000776	kinetochore	--	--
GO:0000777	condensed chromosome kinetochore	IEA	--
GO:0000781	colocalizes with chromosome, telomeric region	IDA	15149599
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--

TP53BP1 for ontologies About GeneDecksing

TP53BP1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TP53BP1
	R&D Systems Antibodies for TP53BP1 (53BP1)
	Cell Signaling Technology (CST) Antibodies for TP53BP1 (53BP1)
	OriGene Antibodies (see all 2): TP53BP1 OriGene Custom Antibody Services for TP53BP1
	GenScript Custom Superior Antibodies Services for TP53BP1
	Novus Biologicals TP53BP1 Antibodies
	Search for Antibodies for TP53BP1 at Abcam
	Uscn Antibodies for TP53BP1
	ThermoFisher Antibody for TP53BP1

Assay Products for TP53BP1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TP53BP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TP53BP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TP53BP1 for domains About GeneDecksing

3 InterPro domains/families:

IPR015125 53-BP1_Tudor

IPR014722 Rib_L2_dom2

IPR001357 BRCT_dom

Graphical View of Domain Structure for InterPro Entry Q12888

ProtoNet protein and cluster: Q12888

1 Blocks protein family: IPB001357 BRCT domain

UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888

Domain: The Tudor-like region mediates binding to H4K20me2

Similarity: Contains 2 BRCT domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888

Function: Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis.

Enhances TP53-mediated transcriptional activation

Genatlas biochemistry entry for TP53BP1:

TP53 binding protein 1,nuclear and cytoplasmic not binding mutant TP53

miRNA Products:		OriGene 3'-UTR Clone (see all 3): TP53BP1 Browse MicroRNA Expression Plasmids
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		3 QIAGEN miScript miRNA Assays for microRNAs that regulate TP53BP1:
		hsa-miR-548t hsa-miR-548n hsa-miR-3941
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TP53BP1 (see all 4) OriGene shRNA RFP: TP53BP1 OriGene siRNA: TP53BP1
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Gene Editing
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		GenScript: all cDNA clones in your preferred vector (see all 3): TP53BP1 (NM_005657)
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		Search LifeMap BioReagents cell lines for TP53BP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP53BP1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	17805299
GO:0001104	RNA polymerase II transcription cofactor activity	IMP	17805299
GO:0002039	p53 binding	IPI	17805299
GO:0003684	damaged DNA binding	IEA	--
GO:0005515	protein binding	IPI	--

TP53BP1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TP53BP1:

Increased resistance to MDM2 i

Animal Models:
Mouse knock-out Trp53bp1^tm1Jc for TP53BP1
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Trp53bp1):

cellular	growth/size	hematopoietic system	immune system	mortality/aging
reproductive system	tumorigenesis

TP53BP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Homologous Recombination Repair

	Homologous Recombination Repair	1.00			Double-Strand Break Repair	0.71
	Homologous recombination repair of replication-independent double-strand breaks	1.00

Formation of RNA Pol II elongation complex

DNA damage_Role of Brca1 and Brca2 in DNA repair

0.17

DNA damage Role of Brca1 and Brca2 in DNA repair

0.17

Cell Cycle / Checkpoint Control

Cell Cycle / Checkpoint Control

1.00

Recruitment of repair and signaling proteins to double-strand breaks

Recruitment of repair and signaling proteins to double-strand breaks

1.00

DNA Damage

DNA Damage

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TP53BP1

DNA damage Role of Brca1 and Brca2 in DNA repair

2 Cell Signaling Technology (CST) Pathways for TP53BP1

	Cell Cycle / Checkpoint Control
	DNA Damage

1 GeneGo (Thomson Reuters) Pathway for TP53BP1

DNA damage Role of Brca1 and Brca2 in DNA repair

5 Reactome Pathways for TP53BP1

	DNA Repair
	Homologous recombination repair of replication-independent double-strand breaks
	Homologous Recombination Repair
	Recruitment of repair and signaling proteins to double-strand breaks
	Double-Strand Break Repair

TP53BP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TP53BP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/140 Interacting proteins for TP53BP1 (Q12888^{1, 2, 3} ENSP00000371475⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 140)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST4H4	P62805²^,³, ENSP00000350767⁴	MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3 STRING: ENSP00000350767
HIST1H4B	P62805²^,³	MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3
HIST1H4C	P62805²^,³	MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3
HIST1H4D	P62805²^,³	MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3
HIST1H4E	P62805²^,³	MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000724	double-strand break repair via homologous recombination	TAS	--
GO:0006281	DNA repair	TAS	--
GO:0006302	double-strand break repair	TAS	--
GO:0006974	response to DNA damage stimulus	IDA	17500065
GO:0045893	positive regulation of transcription, DNA-dependent	NAS	9748285

TP53BP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TP53BP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TP53BP1
10/14 Novoseek chemical compound relationships for TP53BP1 gene (see all 14) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
p202	96.9	179	11007452 (10), 8910340 (9), 10074903 (7), 8619867 (7) (see all 25)
mnda	79.8	1	17981573 (1)
camptothecin	43.2	9	15856006 (3), 19557000 (1), 20304914 (1), 11331310 (1)
wortmannin	35.1	2	11331310 (1), 12956959 (1)
hydroxyurea	33.3	4	11331310 (1), 12824158 (1), 20231360 (1)
physostigmine	29.4	3	9865494 (1), 17981573 (1), 14757431 (1)
methylmethanesulfonate	22.6	1	11331310 (1)
etoposide	16.5	3	19071232 (1), 11331310 (1)
lysine	2.32	2	18026117 (1), 19203579 (1), 18840612 (1)
oxygen	0	1	17575156 (1)

Search CenterWatch for drugs/clinical trials and news about TP53BP1 / TP53B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TP53BP1 gene (3 alternative transcripts):

NM_001141979.1 NM_001141980.1 NM_005657.2

Unigene Cluster for TP53BP1:

Tumor protein p53 binding protein 1

Hs.440968 [show with all ESTs]

Unigene Representative Sequence: AF078776

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000263801(uc001zrs.3) ENST00000476454(uc001zrp.3) ENST00000411772

ENST00000382039 ENST00000382044(uc010udp.2 uc001zrq.4 uc001zrr.4)

ENST00000450115 ENST00000434595 ENST00000434561 ENST00000572085(uc010udq.1)

ENST00000571145 ENST00000417342 ENST00000467474 ENST00000413546 ENST00000480860

ENST00000414758 ENST00000477089

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TP53BP1

Additional cDNA sequence:

AB210025.1 AF078776.1 AK123418.1 AK292915.1 AK295764.1 AK307405.1 BC017846.1 BC063119.1

BC112161.1 BX537418.1 DQ102772.1 U09477.1

17 DOTS entries:

DT.95301122 DT.40258937 DT.40116929 DT.121049061 DT.97794060 DT.75133574 DT.92439720 DT.75141971

DT.75133335 DT.91680834 DT.95360903 DT.97811257 DT.102831478 DT.91814478 DT.95150757 DT.95358247

DT.95337473

24/287 AceView cDNA sequences (see all 287):

BE926485 AI434420 BQ188339 BU161101 AA410461 BE727520 BC017846 AW294709

NM_005657 BM789414 BM461729 BG252079 CB119575 BQ448466 BU521444 BM926929

BF197778 AA062699 BQ900363 BE207452 BM705614 BU738343 BQ001035 AK123418

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TP53BP1 (see all 11) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	·	14c	^	15	^	16	^	17a	·	17b	·	17c	^	18a	·	18b	^	19a	·	19b	^
SP1:																																					-		-								-
SP2:																																					-		-								-
SP3:			-		-		-																														-		-								-
SP4:
SP5:

ExUns:	20a	·	20b	^	21	^	22	^	23	^	24	^	25	^	26	^	27a	·	27b	^	28a	·	28b	^	29	^	30a	·	30b	^	31	^	32	^	33	^	34
SP1:																	-								-
SP2:																	-								-
SP3:																	-								-
SP4:																									-
SP5:																	-

ECgene alternative splicing isoforms for TP53BP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TP53BP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATCTTGTAT

About this image

TP53BP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Retina

Eye

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TP53BP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TP53BP1

SOURCE GeneReport for Unigene cluster: Hs.440968

SABiosciences Expression via Pathway-Focused PCR Arrays including TP53BP1:

DNA Damage Signaling Pathway in human mouse rat

Telomeres & Telomerase in human mouse rat

Cellular Senescence in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP53BP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TP53BP1 gene from 6/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Trp53bp1^{1 , 5}	transformation related protein 53 binding protein 1^{1, 5}	84.96(n)¹ 81.71(a)¹		2 (60.37 cM)⁵ 27223¹ NM_013735.3¹ NP_038763.3¹ 121193281⁵
chicken (Gallus gallus)	Aves	TP53BP1¹	tumor protein p53 binding protein 1	61.93(n) 56.29(a)		415589 XM_413957.3 XP_413957.3
lizard (Anolis carolinensis)	Reptilia	TP53BP1⁶	--	46(a)	1 ↔ 1	GL344593.1(12622-26084)
African clawed frog (Xenopus laevis)	Amphibia	LOC398208²	p53-binding protein 1	74.15(n)		AF281071.1
zebrafish (Danio rerio)	Actinopterygii	BI705963.1²	--	71.93(n)		324972 BI705963.1
honey bee (Apis mellifera)	Insecta	--	--	20(a)	1 ↔ 1	GroupUn.112(100586-104889)

ENSEMBL Gene Tree for TP53BP1 (if available)
TreeFam Gene Tree for TP53BP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs138274771^1,2		--	43698948(+)	`TTCCAA/GGTGTT`	3	--	ds500¹		0	--	--	--	--
rs138616933^1,2	C,	--	43698973(+)	`CATGT-/TTATC TTATC`	3	--	ds500¹		0	--	--	--	--
rs141888590^1,2		--	43698979(+)	`TTATCG/TTACGG`	3	--	ds500¹		0	--	--	--	--
rs191815602^1,2		--	43699040(+)	`CTTTCA/GTTCTC`	3	--	ds500¹		0	--	--	--	--
rs150205757^1,2		--	43699050(+)	`CCCTTC/TAGCTC`	3	--	ds500¹		0	--	--	--	--
rs138703885^1,2		--	43699059(+)	`TCTAAC/GAGTTG`	3	--	ds500¹		0	--	--	--	--
rs45626239^1,2	C,F,	--	43699265(-)	`ATTCTG/TTGGCA`	3	--	ds500¹		7		NS WA	310
rs2242067^1,2	C,F,O,A,H,	--	43699303(+)	`CTTGGC/TCAGCT`	3	--	ds500¹		10		NS WA NA EA	554
rs2242068^1,2	C,F,O,A,H,	--	43699304(+)	`TTGGCC/GAGCTG`	3	--	ds500¹		11		NS WA NA CSA EA	556
rs145601219^1,2		--	43699315(+)	`CCTCC-/GTAA GTAAG`	3	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TP53BP1 (43699407 - 43802926 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TP53BP1
1 CNV: 5779
Human Gene Mutation Database (HGMD): TP53BP1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TP53BP1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TP53BP1 for disorders About GeneDecksing

OMIM gene information: 605230 OMIM disorders: --

UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888

Note=A chromosomal aberration involving TP53BP1 is found in a form of myeloproliferative disorder chronic with

eosinophilia. Translocation t(5;15)(q33;q22) with PDGFRB creating a TP53BP1-PDGFRB fusion protein

20/39 diseases for TP53BP1 (see all 39): About MalaCards

diffuse large b-cell lymphoma b-cell lymphomas eosinophilic myeloproliferative disorder ataxia telangiectasia

squamous cell carcinoma myeloproliferative disorder squamous cell carcinoma of the head and neck esophageal squamous cell carcinoma

systemic lupus erythematosus lupus erythematosus chronic lymphocytic leukemia breast-ovarian cancer

lymphocytic leukemia ovarian cancer lung cancer susceptibility hereditary pancreatitis

ataxia retinoblastoma pancreatic cancer lung cancer

10/15 Novoseek disease relationships for TP53BP1 gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia	83.5	22	14695167 (2), 12697768 (1), 15279780 (1), 11801725 (1) (see all 16)
retinoblastoma	42.3	7	7890747 (2), 9233764 (1), 8524315 (1), 9766636 (1) (see all 6)
cancer	37.9	18	12447382 (2), 17546051 (2), 15856006 (1), 17143500 (1) (see all 12)
tumors	29.6	47	17637749 (3), 12884364 (3), 17522062 (3), 10646849 (3) (see all 25)
chromosomal aberrations	14.7	2	17591918 (1), 18804090 (1)
ovarian cancer	12.7	4	16517057 (3), 19422301 (1)
growth retardation	8.66	3	10074903 (1), 12884364 (1), 20231360 (1)
breast cancer	8.33	14	10646849 (4), 20453858 (2), 14978302 (1), 16314399 (1) (see all 8)
necrosis	3.07	3	10646849 (3)
metastasis	2.88	1	11585747 (1)

Genetic Association Database (GAD): TP53BP1
Human Genome Epidemiology (HuGE) Navigator: TP53BP1 (21 documents)

Export disorders for TP53BP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TP53BP1 gene, integrated from 9 sources (see all 304):
(articles sorted by number of sources associating them with TP53BP1)

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Stimulation of p53-mediated transcriptional activation by the p53- binding proteins, 53BP1 and 53BP2. (PubMed id 9748285)^{1, 2, 3, 9} Iwabuchi K.... Fields S. (1998)
Two cellular proteins that bind to wild-type but not mutant p53. (PubMed id 8016121)^{1, 2, 3, 9} Iwabuchi K....Fields S. (1994)
The GAR motif of 53BP1 is arginine methylated by PRMT1 and is necessary for 53BP1 DNA binding activity. (PubMed id 16294045)^{1, 2, 9} Boisvert F.-M.... Doherty A.J. (2005)
53BP1 oligomerization is independent of its methylation by PRMT1. (PubMed id 16294047)^{1, 2, 9} Adams M.M.... Carpenter P.B. (2005)
53BP1, a mediator of the DNA damage checkpoint. (PubMed id 12364621)^{1, 2, 9} Wang B....Elledge S.J. (2002)
p8/nupr1 regulates DNA-repair activity after double-s trand gamma irradiation-induced DNA damage. (PubMed id 19650074)^{1, 2, 9} Gironella M....Iovanna J.L. (2009)
Negative cell cycle regulation and DNA-damage inducible phosphorylation of the BRCT protein 53BP1. (PubMed id 11042216)^{1, 2, 9} Xia Z.... Carpenter P.B. (2001)
Joint effects of single nucleotide polymorphisms in P53BP1 and p53 on breast cancer risk in a Chinese population. (PubMed id 16314399)^{1, 4, 9} Ma H....Shen H. (2006)
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. (PubMed id 15574327)^{1, 2, 9} Riballo E.... Loebrich M. (2004)
MDC1 is a mediator of the mammalian DNA damage checkpoint. (PubMed id 12607005)^{1, 2, 9} Stewart G.S....Elledge S.J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7158	HGNC: 11999	AceView: TP53BP1	Ensembl:ENSG00000067369	euGenes: HUgn7158
ECgene: TP53BP1	H-InvDB: TP53BP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TP53BP1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TP53BP1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/tp53bp1/

Intellectual Property for TP53BP1 gene
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Patent Information for TP53BP1 gene:
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tumor protein p53 binding protein 1

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tumor protein p53 binding protein 1

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