FB2024_03 , released April 23, 2024
Gene: Dmel\tefu
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General Information
Symbol
Dmel\tefu
Species
D. melanogaster
Name
telomere fusion
Annotation Symbol
CG6535
Feature Type
FlyBase ID
FBgn0045035
Gene Model Status
Stock Availability
Enzyme Name (EC)
non-specific serine/threonine protein kinase (2.7.11.1)
Gene Summary
Serine/threonine-protein kinase which recognizes the substrate consensus sequence (UniProt, Q5EAK6)
Contribute a Gene Snapshot for this gene.
Also Known As

ATM, dATM, atm/tefu, ataxia telangiectasia mutated

Key Links
Genomic Location
Cytogenetic map
Sequence location
Recombination map
3-56
RefSeq locus
NT_033777 REGION:15232212..15242236
Sequence
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
Function
Gene Ontology (GO) Annotations (20 terms)
Molecular Function (2 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
inferred from direct assay
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
Biological Process (16 terms)
Terms Based on Experimental Evidence (12 terms)
CV Term
Evidence
References
involved_in DNA repair
inferred from mutant phenotype
inferred from direct assay
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
inferred from direct assay
inferred from mutant phenotype
inferred from direct assay
inferred from mutant phenotype
inferred from mutant phenotype
Terms Based on Predictions or Assertions (6 terms)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN001673294
involved_in DNA repair
inferred from electronic annotation with InterPro:IPR044107
inferred from biological aspect of ancestor with PANTHER:PTN001673294
inferred from biological aspect of ancestor with PANTHER:PTN001673294
inferred from biological aspect of ancestor with PANTHER:PTN001673294
Cellular Component (2 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
located_in nucleus
inferred from direct assay
Terms Based on Predictions or Assertions (2 terms)
CV Term
Evidence
References
is_active_in cytoplasm
inferred from biological aspect of ancestor with PANTHER:PTN001673294
is_active_in nucleus
inferred from biological aspect of ancestor with PANTHER:PTN000124197
Gene Group (FlyBase)
Protein Family (UniProt)
Belongs to the PI3/PI4-kinase family. ATM subfamily. (Q5EAK6)
Catalytic Activity (EC/Rhea)
protein serine/threonine kinase activity
(1) ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein] (2.7.11.1)
(2) ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl- [protein] (2.7.11.1)
Summaries
Gene Group (FlyBase)
ATYPICAL PROTEIN KINASES -
Atypical kinases are protein kinases or putative protein kinases that do not share clear sequence similarity with conventional eukaryotic protein kinases, but they or their orthologs have been shown experimentally to have protein kinase activity. Atypical kinases are defined in FBrf0201870.
Protein Function (UniProtKB)
Serine/threonine-protein kinase which recognizes the substrate consensus sequence
(UniProt, Q5EAK6)
Summary (Interactive Fly)

Phosphatidylinositol 3- and 4-kinase - serves as Drosophila's ATM (ataxia telangiectasia mutated) - plays a conserved and essential role in the maintenance of normal telomeres and chromosome stability

Gene Model and Products
Number of Transcripts
1
Number of Unique Polypeptides
1

Please see the JBrowse view of Dmel\tefu 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 Q5EAK6)

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

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

Gene model reviewed during 5.48

Sequence Ontology: Class of Gene
Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
FBtr0110874
8416
2767
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
FBpp0110174
318.0
2767
7.37
Polypeptides with Identical Sequences

There is only one protein coding transcript and one polypeptide associated with this gene

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\tefu 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).

-0.34

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

JBrowse - Visual display of RNA-Seq signals

View Dmel\tefu 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
Flygut - An atlas of the Drosophila adult midgut
Images
Alleles, Insertions, Transgenic Constructs, and Aberrations
Classical and Insertion Alleles ( 24 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 11 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of tefu
Transgenic constructs containing regulatory region of tefu
Aberrations (Deficiencies and Duplications) ( 10 )
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
adult thorax & chaeta | conditional ts (with Df(3R)PG4)
anaphase & condensed nuclear chromosome
anaphase & condensed nuclear chromosome (with tefuatm-3)
anaphase & condensed nuclear chromosome (with tefuatm-6)
chromosome
chromosome & neuroblast | third instar larval stage 2
metaphase & condensed nuclear chromosome (with tefuatm-3)
metaphase & condensed nuclear chromosome (with tefuatm-6)
mitosis & nuclear chromosome
mitosis & nuclear chromosome | maternal effect | germ-line clone
Orthologs
Human Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Homo sapiens (Human) (6)
10 of 14
Yes
Yes
2 of 14
No
No
2  
2 of 14
No
No
1  
1 of 14
No
No
1 of 14
No
No
1 of 14
No
No
Model Organism Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Rattus norvegicus (Norway rat) (4)
11 of 14
Yes
Yes
2 of 14
No
No
2 of 14
No
No
1 of 14
No
No
Mus musculus (laboratory mouse) (6)
11 of 14
Yes
Yes
2 of 14
No
No
1 of 14
No
No
1 of 14
No
No
1 of 14
No
No
1 of 14
No
No
Xenopus tropicalis (Western clawed frog) (6)
9 of 13
Yes
Yes
1 of 13
No
No
1 of 13
No
No
1 of 13
No
No
1 of 13
No
No
1 of 13
No
No
Danio rerio (Zebrafish) (6)
9 of 14
Yes
Yes
2 of 14
No
No
2 of 14
No
No
1 of 14
No
No
1 of 14
No
No
1 of 14
No
No
Caenorhabditis elegans (Nematode, roundworm) (7)
8 of 14
Yes
Yes
2 of 14
No
No
2 of 14
No
No
2 of 14
No
No
1 of 14
No
Yes
1 of 14
No
No
1 of 14
No
Yes
Anopheles gambiae (African malaria mosquito) (6)
9 of 12
Yes
Yes
Arabidopsis thaliana (thale-cress) (6)
9 of 13
Yes
Yes
2 of 13
No
Yes
2 of 13
No
No
1 of 13
No
No
1 of 13
No
No
1 of 13
No
No
Saccharomyces cerevisiae (Brewer's yeast) (5)
10 of 13
Yes
Yes
1 of 13
No
No
1 of 13
No
No
1 of 13
No
No
1 of 13
No
No
Schizosaccharomyces pombe (Fission yeast) (6)
8 of 12
Yes
Yes
1 of 12
No
No
1 of 12
No
No
1 of 12
No
No
1 of 12
No
No
1 of 12
No
No
Escherichia coli (enterobacterium) (0)
Other Organism Orthologs (via OrthoDB)
Data provided directly from OrthoDB:tefu. Refer to their site for version information.
Paralogs
Paralogs (via DIOPT v9.1)
Drosophila melanogaster (Fruit fly) (5)
4 of 13
4 of 13
3 of 13
2 of 13
1 of 13
Human Disease Associations
FlyBase Human Disease Model Reports
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 11 )
Potential Models Based on Orthology ( 2 )
Human Ortholog
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 3 )
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.
Homo sapiens (Human)
Gene name
Score
OMIM
OMIM Phenotype
DO term
Complementation?
Transgene?
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
Summary of Genetic Interactions
esyN Network Diagram
Show/hide secondary interactors 
(data from AllianceMine provided by esyN)
esyN Network Key:
Suppression
Enhancement
Other Interaction Browsers

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
Genomic Location and Detailed Mapping Data
Chromosome (arm)
3R
Recombination map
3-56
Cytogenetic map
Sequence location
FlyBase Computed Cytological Location
Cytogenetic map
Evidence for location
88E3-88E4
Limits computationally determined from genome sequence between P{EP}CG33967EP666 and P{lacW}Hsc70-4L3929
Experimentally Determined Cytological Location
Cytogenetic map
Notes
References
Experimentally Determined Recombination Data
Location
Left of (cM)
Right of (cM)
Notes
Stocks and Reagents
Stocks (15)
Genomic Clones (21)
cDNA Clones (6)
 

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)
    BDGP DGC clones
    RNAi and Array Information
    Linkouts
    DRSC - Results frm RNAi screens
    Antibody Information
    Laboratory Generated Antibodies
    Commercially Available Antibodies
     
    Cell Line Information
    Publicly Available Cell Lines
     
      Other Stable Cell Lines
       
        Other Comments

        tefu is required for double strand break repair in the oocyte.

        tefu is not essential for cell cycle arrest at high doses of X-irradiation.

        tefu mutants show a high level of spontaneous telomere fusions in larval neuroblasts.

        tefu is required for the maintenance of normal telomeres.

        tefu mutants show a high level of spontaneous telomere fusions and other chromosome abnormalities in larval neuroblasts.

        tefu mutants show a high level of spontaneous telomere fusions in larval neuroblasts. Mutants show an increase in spontaneous p53-dependent apoptosis.

        S2 cells are treated with dsRNA made from templates generated with primers directed against this gene to assess effect on proteolysis of dup and geminin genes.

        dsRNA made from templates generated with primers directed against this gene tested in RNAi screen for effects on Kc167 and S2R+ cell morphology.

        tefu is essential for normal cell proliferation, the gene may have a role in protecting the linear ends of chromosomes.

        Relationship to Other Genes
        Source for database merge of

        Source for merge of: tefu atm

        Additional comments

        Source for identity of atm CG6535 was sequence comparison ( date:040205 ).

        Nomenclature History
        Source for database identify of

        Source for identity of: tefu atm

        Source for identity of: atm CG6535

        Nomenclature comments
        Etymology
        Synonyms and Secondary IDs (17)
        Reported As
        Symbol Synonym
        Secondary FlyBase IDs
        • FBgn0038308
        Datasets (0)
        Study focus (0)
        Experimental Role
        Project
        Project Type
        Title
        Study result (0)
        Result
        Result Type
        Title
        External Crossreferences and Linkouts ( 56 )
        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/Swiss-Prot - Manually annotated and reviewed 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
        FlyMine - An integrated database for Drosophila genomics
        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
        Flygut - An atlas of the Drosophila adult midgut
        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 (200)