FB2024_02 , released April 23, 2024
Gene: Dmel\nbs
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General Information
Symbol
Dmel\nbs
Species
D. melanogaster
Name
nbs
Annotation Symbol
CG6754
Feature Type
FlyBase ID
FBgn0261530
Gene Model Status
Stock Availability
Gene Summary
nbs (nbs) encodes a component of the conserved MRN complex, which plays an important role in the repair of DNA double strand breaks. The product of nbs is required to prevent chromosome breakage, interacts with the telomere capping complex and prevents telomeric fusions. [Date last reviewed: 2019-02-28] (FlyBase Gene Snapshot)
Also Known As

l(3)67BDp, NBS1, l(3)67BDr, Nijmegen breakage syndrome

Key Links
Genomic Location
Cytogenetic map
Sequence location
Recombination map
3-31
RefSeq locus
NT_037436 REGION:9720414..9723194
Sequence
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
Function
Gene Ontology (GO) Annotations (12 terms)
Molecular Function (1 term)
Terms Based on Experimental Evidence (0 terms)
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN000255549
Biological Process (9 terms)
Terms Based on Experimental Evidence (6 terms)
CV Term
Evidence
References
Terms Based on Predictions or Assertions (5 terms)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN000255549
inferred from electronic annotation with InterPro:IPR040227
inferred from biological aspect of ancestor with PANTHER:PTN000255549
inferred from electronic annotation with InterPro:IPR040227
inferred from electronic annotation with InterPro:IPR016592
Cellular Component (2 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
inferred from direct assay
Terms Based on Predictions or Assertions (2 terms)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN000255549
inferred from electronic annotation with InterPro:IPR016592, InterPro:IPR040227
inferred from electronic annotation with InterPro:IPR040227
located_in nucleus
inferred from electronic annotation with InterPro:IPR016592
Gene Group (FlyBase)
Protein Family (UniProt)
-
Summaries
Gene Snapshot
nbs (nbs) encodes a component of the conserved MRN complex, which plays an important role in the repair of DNA double strand breaks. The product of nbs is required to prevent chromosome breakage, interacts with the telomere capping complex and prevents telomeric fusions. [Date last reviewed: 2019-02-28]
Gene Group (FlyBase)
MRN COMPLEX -
The MRN complex consists of the two evolutionarily conserved components (Mre11 and Rad50) and a third less-conserved component (Nbs1/Xrs2). This complex mediates telomere maintenance in addition to a variety of functions in response to DNA double-strand breaks, including homologous recombination, nonhomologous end joining (NHEJ), and activation of DNA damage checkpoints. RAD50 provides ATP-dependent regulatory control of Mre11 nuclease activity by unwinding and/or repositioning DNA ends into the Mre11 active site. (Adapted from FBrf0180055 and PMID:17698079.)
Summary (Interactive Fly)

encodes a multifunctional protein that plays critical roles in the response to DNA damage and telomere maintenance - part of a protein complex, MRN, that senses DNA strand breaks and amplifies the signal and then conveys it to downstream effectors, such as ATM and p53, that regulate cell cycle checkpoints and DNA repair

Gene Model and Products
Number of Transcripts
2
Number of Unique Polypeptides
2

Please see the JBrowse view of Dmel\nbs for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)
Isoform displayed:
Pfam protein domains
InterPro name
classification
start
end
Protein Domains (via SMART)
Isoform displayed:
SMART protein domains
InterPro name
classification
start
end
Structure
Protein 3D structure   (Predicted by AlphaFold)   (AlphaFold entry Q9VT40)

If you don't see a structure in the viewer, refresh your browser.
Model Confidence:
  • Very high (pLDDT > 90)
  • Confident (90 > pLDDT > 70)
  • Low (70 > pLDDT > 50)
  • Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Experimentally Determined Structures
Crossreferences
Comments on Gene Model

Mutation in sequenced strain; single base change at splice site. Alternative downstream splice donor may be used.

Gene model reviewed during 6.02

Gene model reviewed during 5.45

Low-frequency RNA-Seq exon junction(s) not annotated.

Gene model reviewed during 6.04

Sequence Ontology: Class of Gene
Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
FBtr0306039
2593
816
FBtr0306040
2599
818
Additional Transcript Data and Comments
Reported size (kB)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name
FlyBase ID
Predicted MW (kDa)
Length (aa)
Theoretical pI
UniProt
RefSeq ID
GenBank
FBpp0297181
91.2
816
7.96
FBpp0297182
91.5
818
8.12
Polypeptides with Identical Sequences

None of the polypeptides share 100% sequence identity.

Additional Polypeptide Data and Comments
Reported size (kDa)
Comments
External Data
Linkouts
Sequences Consistent with the Gene Model
Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\nbs using the Feature Mapper tool.

External Data
Crossreferences
Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
Linkouts
Expression Data
Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

-0.05

Transcript Expression
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Polypeptide Expression
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Evidence
References
inferred from direct assay
Expression Deduced from Reporters
High-Throughput Expression Data
Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\nbs in JBrowse
RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
Reference
See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
Developmental Proteome: Life Cycle
Developmental Proteome: Embryogenesis
External Data and Images
Linkouts
DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
Images
Alleles, Insertions, Transgenic Constructs, and Aberrations
Classical and Insertion Alleles ( 16 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 6 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of nbs
Transgenic constructs containing regulatory region of nbs
Aberrations (Deficiencies and Duplications) ( 3 )
Inferred from experimentation ( 3 )
Gene partially disrupted in
Inferred from location ( 0 )
Variants
Variant Molecular Consequences
Alleles Representing Disease-Implicated Variants
Phenotypes
For more details about a specific phenotype click on the relevant allele symbol.
Lethality
Allele
Sterility
Allele
Other Phenotypes
Allele
Phenotype manifest in
Allele
chromosome
chromosome & neuroblast | third instar larval stage 2
chromosome | larval stage
eye (with nbs1)
eye (with nbs2)
Orthologs
Human Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Homo sapiens (Human) (1)
9 of 14
Yes
Yes
Model Organism Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Rattus norvegicus (Norway rat) (1)
10 of 14
Yes
Yes
Mus musculus (laboratory mouse) (1)
10 of 14
Yes
Yes
Xenopus tropicalis (Western clawed frog) (1)
4 of 13
Yes
Yes
Danio rerio (Zebrafish) (1)
9 of 14
Yes
Yes
Caenorhabditis elegans (Nematode, roundworm) (0)
Anopheles gambiae (African malaria mosquito) (1)
8 of 12
Yes
Yes
Arabidopsis thaliana (thale-cress) (1)
5 of 13
Yes
Yes
Saccharomyces cerevisiae (Brewer's yeast) (0)
Schizosaccharomyces pombe (Fission yeast) (1)
1 of 12
Yes
Yes
Escherichia coli (enterobacterium) (0)
Other Organism Orthologs (via OrthoDB)
Data provided directly from OrthoDB:nbs. Refer to their site for version information.
Paralogs
Paralogs (via DIOPT v9.1)
Human Disease Associations
FlyBase Human Disease Model Reports
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 0 )
Allele
Disease
Evidence
References
Potential Models Based on Orthology ( 3 )
Human Ortholog
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
Allele
Disease
Interaction
References
Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)
Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
Functional Complementation Data
Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
Interactions
Summary of Physical Interactions
esyN Network Diagram
Show neighbor-neighbor interactions:
Show/hide secondary interactors 
(data from AllianceMine provided by esyN)
Select Layout:
Legend:
Protein
RNA
Selected Interactor(s)
Interactions Browser

Please see the Physical Interaction reports below for full details
protein-protein
Physical Interaction
Assay
References
Summary of Genetic Interactions
esyN Network Diagram
Show/hide secondary interactors 
(data from AllianceMine provided by esyN)
esyN Network Key:
Suppression
Enhancement

Please look at the allele data for full details of the genetic interactions
Starting gene(s)
Interaction type
Interacting gene(s)
Reference
Starting gene(s)
Interaction type
Interacting gene(s)
Reference
External Data
Linkouts
DroID - A comprehensive database of gene and protein interactions.
MIST (genetic) - An integrated Molecular Interaction Database
MIST (protein-protein) - An integrated Molecular Interaction Database
Pathways
Signaling Pathways (FlyBase)
Metabolic Pathways
External Data
Linkouts
KEGG Pathways - A collection of manually drawn pathway maps representing knowledge of molecular interaction, reaction and relation networks.
SignaLink - A signaling pathway resource with multi-layered regulatory networks.
Genomic Location and Detailed Mapping Data
Chromosome (arm)
3L
Recombination map
3-31
Cytogenetic map
Sequence location
FlyBase Computed Cytological Location
Cytogenetic map
Evidence for location
67C5-67C5
Limits computationally determined from genome sequence between P{PZ}fry02240 and P{lacW}l(3)L0539L0539&P{PZ}Dhh1rL562
Experimentally Determined Cytological Location
Cytogenetic map
Notes
References
67C10-67D1
Experimentally Determined Recombination Data
Location

3-[28]

Left of (cM)
Right of (cM)
Notes
Stocks and Reagents
Stocks (10)
Genomic Clones (20)
cDNA Clones (81)
 

Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see JBrowse for alignment of the cDNAs and ESTs to the gene model.

cDNA clones, fully sequenced
BDGP DGC clones
Other clones
    Drosophila Genomics Resource Center cDNA clones

    For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

    cDNA Clones, End Sequenced (ESTs)
    RNAi and Array Information
    Linkouts
    DRSC - Results frm RNAi screens
    Antibody Information
    Laboratory Generated Antibodies
     

    monoclonal

    polyclonal

    Commercially Available Antibodies
     
    Cell Line Information
    Publicly Available Cell Lines
     
      Other Stable Cell Lines
       
        Other Comments

        nbs is required to maintain chromosome integrity and to prevent telomere fusion. nbs mediates transport of the mre11/rad50 complex in the nucleus. nbs and the mre11/rad50 complex play partially independent roles in telomere protection and nbs appears to function in both mei-41- and tefu-controlled telomere protection pathways.

        nbs is essential for cell cycle arrest at high doses of X-irradiation.

        Identification: Defined on basis of DNA sequence similarity to NBS (Nijmegen Breakage Syndrome).

        Relationship to Other Genes
        Source for database merge of

        Source for merge of: nbs CG6754

        Source for merge of: nbs l(3)67BDp

        Source for merge of: nbs l(3)67BDr

        Additional comments

        FlyBase curator comment: the insertion in the "c06100" Exelixis line (PBac{PB}deflc06100) was originally assigned to the nbs gene in FBrf0179797, resulting in the "nbsc06100" (FBal0158901) allele. However, FBrf0184340 shows that the insertion is actually within defl.

        Nomenclature History
        Source for database identify of
        Nomenclature comments
        Etymology
        Synonyms and Secondary IDs (16)
        Reported As
        Name Synonyms
        Nijmegen breakage syndrome
        lethal (3) 67BDp
        lethal (3) 67BDr
        nbs
        Secondary FlyBase IDs
        • FBgn0002220
        • FBgn0086349
        • FBgn0026198
        • FBgn0002218
        • FBgn0036037
        Datasets (0)
        Study focus (0)
        Experimental Role
        Project
        Project Type
        Title
        Study result (0)
        Result
        Result Type
        Title
        External Crossreferences and Linkouts ( 51 )
        Sequence Crossreferences
        NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
        GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.
        GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.
        RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.
        UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.
        UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information
        Other crossreferences
        AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.
        DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
        EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
        FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
        KEGG Genes - Molecular building blocks of life in the genomic space.
        MARRVEL_MODEL - MARRVEL (model organism gene)
        Linkouts
        Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones
        DroID - A comprehensive database of gene and protein interactions.
        DRSC - Results frm RNAi screens
        Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
        FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
        FlyCyc Genes - Genes from a BioCyc PGDB for Dmel
        Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
        FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.
        iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)
        Interactive Fly - A cyberspace guide to Drosophila development and metazoan evolution
        KEGG Pathways - A collection of manually drawn pathway maps representing knowledge of molecular interaction, reaction and relation networks.
        MIST (genetic) - An integrated Molecular Interaction Database
        MIST (protein-protein) - An integrated Molecular Interaction Database
        SignaLink - A signaling pathway resource with multi-layered regulatory networks.
        References (88)