Tbio NBN Nibrin

Protein Summary

Description

Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex. Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• O60934
• B2R626
• B2RNC5
• O60672
• Q32NF7
• Q53FM6
• Q63HR6
• Q7LDM2

Gene Name

• NBN

Ensembl ID

• ENST00000265433
• ENSP00000265433
• ENSG00000104320

Symbol

• NBS
• NBS1
• P95
• ATV
• NBS
• P95
• NBS1
• AT-V1
• AT-V2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	0.97
disease perturbation	0.96
transcription factor perturbation	0.91
biological process	0.9
transcription factor binding site profile	0.86

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Nibrin

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Nibrin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.67   (req: < 5)

Gene RIFs: 283   (req: <= 3)

Antibodies: 1327   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.67   (req: >= 5)

Gene RIFs: 283   (req: > 3)

Antibodies: 1327   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 31

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (215)

Explore Interacting Targets

1 – 10 of 215

• See Interactions on String-DB

FAM219A

Tdark

Novelty:  12.35294118

p_int:  0.999999916

p_ni:  4.7e-8

p_wrong:  3.6e-8

Score:  0.198

Data Source:  BioPlex,STRINGDB

BMP1

Tchem

Novelty:  0.00299518

p_int:  0.99999689

p_ni:  0.00000311

Score:  0.195

Data Source:  BioPlex,STRINGDB

CELA2B

Tdark

Family:  Enzyme

Novelty:  0.43122129

p_int:  0.999996816

p_ni:  0.000003183

p_wrong:  1e-9

Score:  0.248

Data Source:  BioPlex,STRINGDB

RGS20

Tbio

Novelty:  0.04087618

p_int:  0.99995272

p_ni:  0.00004725

p_wrong:  3e-8

Score:  0.156

Data Source:  BioPlex,STRINGDB

RORC

Tchem

Family:  NR

Novelty:  0.00509106

p_int:  0.999950595

p_ni:  0.000049402

p_wrong:  3e-9

Data Source:  BioPlex

PBXIP1

Tbio

Novelty:  0.15404864

p_int:  0.99989685

p_ni:  0.000103141

p_wrong:  9e-9

Data Source:  BioPlex

RAB43

Tbio

Family:  Enzyme

Novelty:  0.07527576

p_int:  0.999691176

p_ni:  0.00030702

p_wrong:  0.000001804

Data Source:  BioPlex

LZTS2

Tbio

Novelty:  0.09515452

p_int:  0.999305404

p_ni:  0.000694534

p_wrong:  6.1e-8

Data Source:  BioPlex

TERF2

Tchem

Family:  TF

Novelty:  0.01003649

Score:  0.999

Data Source:  STRINGDB

MRE11

Tbio

Novelty:  0.01038348

Score:  0.999

Data Source:  Reactome,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (51)

Reactome (34)

KEGG (2)

PathwayCommons (6)

WikiPathways (9)

Cell Cycle (R-HSA-1640170)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Cell Cycle	597 targets	R-HSA-1640170
Reactome	Cell Cycle Checkpoints	272 targets	R-HSA-69620
Reactome	Cellular Senescence	164 targets	R-HSA-2559583
Reactome	Cellular responses to external stimuli	487 targets	R-HSA-8953897
Reactome	Cellular responses to stress	392 targets	R-HSA-2262752

Name	Explore in Pharos	Explore in Source
Cell Cycle	597 targets	R-HSA-1640170
Cell Cycle Checkpoints	272 targets	R-HSA-69620
Cellular Senescence	164 targets	R-HSA-2559583
Cellular responses to external stimuli	487 targets	R-HSA-8953897
Cellular responses to stress	392 targets	R-HSA-2262752

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (41)

Functions (3)

Components (10)

Processes (28)

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1 – 3 of 3

GO Term	Evidence	Assigned by
protein N-terminus binding	Inferred from Physical Interaction (IPI)	UniProtKB
transcription factor binding	Inferred from Physical Interaction (IPI)	UniProtKB
damaged DNA binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central

Disease Associations (null)

No disease associations found

GWAS Traits (6)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 6

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	3	2	3		72.9
smoking status measurement	EFO_0006527	2	2	2		67.2
lymphocyte percentage of leukocytes	EFO_0007993	1	1	1		27.5
Crohn's disease	EFO_0000384	2	1	0	1.1	11.3
diastolic blood pressure	EFO_0006336	1	1	1		10.3

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 6

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	3		72.9
smoking status measurement	EFO_0006527	2		67.2
lymphocyte percentage of leukocytes	EFO_0007993	1		27.5
Crohn's disease	EFO_0000384	0	1.1	11.3
diastolic blood pressure	EFO_0006336	1		10.3

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Cell cycle
Chromosome
Complete proteome
Direct protein sequencing
Disease mutation
DNA damage
DNA repair
Isopeptide bond
Meiosis

GWAS Trait Find Similar Targets

No Header	No Header
Crohn's disease
diastolic blood pressure
inflammatory bowel disease
lymphocyte count
lymphocyte percentage of leukocytes
smoking status measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cellular phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype
liver/biliary system phenotype

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	nibrin	VGNC:836	464278
Macaque	nibrin		695912
Mouse	nibrin	MGI:1351625	27354
Rat	nibrin	RGD:621420	85482
Dog	nibrin		611315

Species	Name	OMA	EggNOG	Inparanoid
Chimp	nibrin
Macaque	nibrin
Mouse	nibrin
Rat	nibrin
Dog	nibrin

Publication Statistics

PubMed Score 163.67

PubMed score by year

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PubTator Score 1173.04

PubTator score by year

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Related Publications

Text Mined References (395)

GeneRif Annotations (283)

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PMID	Year	Title