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    nbs nbs [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 44259, updated on 9-Dec-2024

    Summary

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    Official Symbol
    nbsprovided by FlyBase
    Official Full Name
    nbsprovided by FlyBase
    Primary source
    FLYBASE:FBgn0261530
    Locus tag
    Dmel_CG6754
    See related
    AllianceGenome:FB:FBgn0261530
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    6754; CG6754; Dmel\CG6754; dNbs1; Dnbs1; l(3)67BDp; l(3)67BDr; l(3)e77A1; Nbs; NBS; nbs1; Nbs1; NBS1
    Summary
    Predicted to enable damaged DNA binding activity. Involved in DNA metabolic process and intracellular signal transduction. Part of Mre11 complex. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; rectum cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See nbs in Genome Data Viewer
    Location:
    67C5-67C5; 3-31 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (9720414..9723194, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (9713514..9716294, complement)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene visgun Neighboring gene small non-coding RNA 838 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene deflated Neighboring gene N(alpha)-acetyltransferase 60

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DNA damage responses in Drosophila nbs mutants with reduced or altered NBS function. Mukherjee S, et al. DNA Repair (Amst), 2009 Jul 4. PMID 19395318, Free PMC Article
    2. A powerful method combining homologous recombination and site-specific recombination for targeted mutagenesis in Drosophila. Gao G, et al. Proc Natl Acad Sci U S A, 2008 Sep 16. PMID 18772376, Free PMC Article
    3. Attenuating the DNA damage response to double-strand breaks restores function in models of CNS neurodegeneration. Tuxworth RI, et al. Brain Commun, 2019. PMID 32954257, Free PMC Article
    4. Mre11-Rad50-Nbs complex is required to cap telomeres during Drosophila embryogenesis. Gao G, et al. Proc Natl Acad Sci U S A, 2009 Jun 30. PMID 19520832, Free PMC Article
    5. Phenotypic analysis of deflated/Ints7 function in Drosophila development. Rutkowski RJ, et al. Dev Dyn, 2009 May. PMID 19326441

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Drosophila telomere capping protein HOAP interacts with DSB sensor proteins Mre11 and Nbs.
      Title: Drosophila telomere capping protein HOAP interacts with DSB sensor proteins Mre11 and Nbs.
    2. Study identified a stringent requirement for Mre11-Rad50-Nbs (MRN) function in telomere protection during early embryonic development.
      Title: Mre11-Rad50-Nbs complex is required to cap telomeres during Drosophila embryogenesis.
    3. This suggests that Nbs and the Mre11/Rad50 complex play partially independent roles in telomere protection and that Nbs functions in both ATR- and ATM-controlled telomere protection pathways.
      Title: The Drosophila Nbs protein functions in multiple pathways for the maintenance of genome stability.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via synthesis-dependent strand annealing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic G2 DNA damage checkpoint signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic G2 DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in telomere maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Mre11 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Mre11 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Mre11 complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nbs
    Names
    CG6754-PD
    CG6754-PE
    lethal (3) 67BDp
    lethal (3) 67BDr
    nbs-PD
    nbs-PE
    nijmegen breakage syndrome
    NP_001246702.1
    • unusual splice

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_037436.4 Reference assembly

      Range
      9720414..9723194 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001259773.2 → NP_001246702.1  nbs, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001246702.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      M9NF67
      Conserved Domains (4) summary
      COG1716
      Location:8 → 99
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00027
      Location:115 → 171
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00060
      Location:3 → 98
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      pfam16508
      Location:207 → 309
      NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

    2. NM_143716.5 → NP_651973.4  nbs, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_651973.4

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VT40
      Conserved Domains (4) summary
      COG1716
      Location:8 → 99
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00027
      Location:115 → 171
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00060
      Location:3 → 98
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      pfam16508
      Location:207 → 311
      NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    M9NF67 M9NF67
    Q95RC6 Q95RC6
    Q9VT40 Q9VT40

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