FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Gene: Dmel\mtDNA-helicase
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General Information
Symbol
Dmel\mtDNA-helicase
Species
D. melanogaster
Name
mitochondrial DNA helicase
Annotation Symbol
CG5924
Feature Type
FlyBase ID
FBgn0032154
Gene Model Status
Stock Availability
Enzyme Name (EC)
DNA helicase (3.6.4.12)
DNA 5'-3' helicase (5.6.2.3)
Gene Summary
mitochondrial DNA helicase (mtDNA-helicase) encodes the replicative mitochondrial DNA helicase, which is responsible for NTPase-dependent double-stranded DNA unwinding during mitochondrial DNA replication. It has roles in mitochondrial genome maintenance, and mitochondrial function. [Date last reviewed: 2018-11-15] (FlyBase Gene Snapshot)
Also Known As

d-mtDNA helicase, mtDNA helicase, Twinkle

Key Links
Genomic Location
Cytogenetic map
Sequence location
Recombination map
2-37
RefSeq locus
NT_033779 REGION:9891255..9893446
Sequence
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
Function
Gene Ontology (GO) Annotations (14 terms)
Molecular Function (9 terms)
Terms Based on Experimental Evidence (5 terms)
CV Term
Evidence
References
inferred from direct assay
inferred from direct assay
inferred from direct assay
inferred from direct assay
inferred from direct assay
Terms Based on Predictions or Assertions (5 terms)
CV Term
Evidence
References
inferred from sequence or structural similarity with UniProtKB:Q96RR1
inferred from sequence or structural similarity with UniProtKB:Q96RR1
inferred from electronic annotation with InterPro:IPR027032
enables ATP binding
inferred from electronic annotation with InterPro:IPR007694
inferred from sequence or structural similarity with UniProtKB:Q96RR1
inferred from electronic annotation with InterPro:IPR007694
inferred from biological aspect of ancestor with PANTHER:PTN000305614
inferred from biological aspect of ancestor with PANTHER:PTN000305614
inferred from electronic annotation with InterPro:IPR027032
inferred from sequence or structural similarity with UniProtKB:Q96RR1
Biological Process (2 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
Terms Based on Predictions or Assertions (2 terms)
CV Term
Evidence
References
involved_in DNA replication
inferred from electronic annotation with InterPro:IPR007694
inferred from biological aspect of ancestor with PANTHER:PTN000305615
inferred from sequence or structural similarity with UniProtKB:Q96RR1
Cellular Component (3 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
located_in mitochondrion
inferred from direct assay
Terms Based on Predictions or Assertions (3 terms)
CV Term
Evidence
References
inferred from sequence or structural similarity with UniProtKB:Q96RR1
inferred from sequence or structural similarity with UniProtKB:Q96RR1
is_active_in mitochondrion
inferred from biological aspect of ancestor with PANTHER:PTN000305615
Protein Family (UniProt)
-
Catalytic Activity (EC/Rhea)
5'-3' DNA helicase activity
Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction (5.6.2.3)
DNA helicase activity
ATP + H2O = ADP + phosphate + H(+) (3.6.4.12)
ATP hydrolysis activity
RHEA 13065:
Summaries
Gene Snapshot
mitochondrial DNA helicase (mtDNA-helicase) encodes the replicative mitochondrial DNA helicase, which is responsible for NTPase-dependent double-stranded DNA unwinding during mitochondrial DNA replication. It has roles in mitochondrial genome maintenance, and mitochondrial function. [Date last reviewed: 2018-11-15]
Gene Group (FlyBase)
UNCLASSIFIED DNA HELICASES -
This group comprises DNA helicases that do not classify under other groups in FlyBase.
MITOCHONDRIAL DNA REPLISOME -
The mitochondrial DNA (mtDNA) replisome is multiprotein assembly required for the replication of mitochondrial DNA. The complex catalyzes the unwinding and strand synthesis of mtDNA. (Adapted from PMID:38884788.)
Protein Function (UniProtKB)
Mitochondrial helicase involved in mtDNA replication (PubMed:17272269, PubMed:19063859, PubMed:22952820, PubMed:25023283). Might have a role in mtDNA repair (By similarity). Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB (By similarity). Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate (By similarity). Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand (By similarity). In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities (By similarity).
(UniProt, Q9VL76)
Gene Model and Products
Number of Transcripts
1
Number of Unique Polypeptides
1

Please see the JBrowse view of Dmel\mtDNA-helicase 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 Q9VL76)

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

Gene model reviewed during 5.44

Gene model reviewed during 5.51

Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
FBtr0079911
1965
613
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
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
Subunit Structure (UniProtKB)

Homohexamer (via C-terminus) which assembled in a ring-like structure. Homoheptamer which assembled in a ring-like structure. Oligomerization is Mg(2+), nucleotide and DNA-independent, however, Mg(2+) and nucleotide stabilize the homohexameric form.

(UniProt, Q9VL76)
Domain

N-terminus enhances protein stability and hexamer formation, which is important for DNA binding, and is required for DNA helicase activity and, ultimately, for mtDNA replisome processivity.

The N-terminal primase-like domain (NTD) is made up of two regions named zinc-binding domain (ZBD) and RNA-polymerase domain (RPD) due to homology to T7 gp4 (PubMed:25023283). Instead of binding zinc the ZBD coordinates binding of a

(UniProt, Q9VL76)
Crossreferences
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\mtDNA-helicase 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).

-0.26

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 mitochondrion
inferred from direct assay
Expression Deduced from Reporters
High-Throughput Expression Data
Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\mtDNA-helicase in JBrowse
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 ( 4 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 16 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of mtDNA-helicase
Transgenic constructs containing regulatory region of mtDNA-helicase
Aberrations (Deficiencies and Duplications) ( 2 )
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
Orthologs
Human Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Homo sapiens (Human) (1)
13 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)
13 of 14
Yes
Yes
Mus musculus (laboratory mouse) (1)
12 of 14
Yes
Yes
Xenopus tropicalis (Western clawed frog) (2)
9 of 13
Yes
Yes
2 of 13
No
No
Danio rerio (Zebrafish) (1)
12 of 14
Yes
Yes
Caenorhabditis elegans (Nematode, roundworm) (1)
13 of 14
Yes
Yes
Anopheles gambiae (African malaria mosquito) (1)
9 of 12
Yes
Yes
Arabidopsis thaliana (thale-cress) (2)
5 of 13
Yes
Yes
1 of 13
No
Yes
Saccharomyces cerevisiae (Brewer's yeast) (0)
Schizosaccharomyces pombe (Fission yeast) (0)
Escherichia coli (enterobacterium) (0)
Other Organism Orthologs (via OrthoDB)
Data provided directly from OrthoDB:mtDNA-helicase. 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 ( 4 )
Potential Models Based on Orthology ( 2 )
Modifiers Based on Experimental Evidence ( 3 )
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
Summary of Genetic Interactions
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
Subunit Structure (UniProtKB)
Homohexamer (via C-terminus) which assembled in a ring-like structure. Homoheptamer which assembled in a ring-like structure. Oligomerization is Mg(2+), nucleotide and DNA-independent, however, Mg(2+) and nucleotide stabilize the homohexameric form.
(UniProt, Q9VL76 )
Linkouts
BioGRID - A database of protein and genetic interactions.
DroID - A comprehensive database of gene and protein interactions.
MIST (protein-protein) - An integrated Molecular Interaction Database
Pathways
Signaling Pathways (FlyBase)
Metabolic Pathways
FlyBase
External Links
External Data
Linkouts
Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.
Class of Gene
Genomic Location and Detailed Mapping Data
Chromosome (arm)
2L
Recombination map
2-37
Cytogenetic map
Sequence location
FlyBase Computed Cytological Location
Cytogenetic map
Evidence for location
30E1-30E1
Limits computationally determined from genome sequence between P{lacW}zf30Ck02506&P{EP}undEP424 and P{lacW}l(2)k06416k06416&P{lacW}sopk04603
Experimentally Determined Cytological Location
Cytogenetic map
Notes
References
Experimentally Determined Recombination Data
Location
Left of (cM)
Right of (cM)
Notes
Stocks and Reagents
Stocks (9)
Genomic Clones (21)
cDNA Clones (10)
 

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
      Relationship to Other Genes
      Source for database merge of
      Additional comments
      Nomenclature History
      Source for database identify of

      Source for identity of: mtDNA-helicase CG5924

      Nomenclature comments
      Etymology
      Synonyms and Secondary IDs (9)
      Datasets (0)
      Study focus (0)
      Experimental Role
      Project
      Project Type
      Title
      Study result (0)
      Result
      Result Type
      Title
      External Crossreferences and Linkouts ( 32 )
      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
      BioGRID - A database of protein and genetic interactions.
      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
      iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)
      MIST (protein-protein) - An integrated Molecular Interaction Database
      Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.
      References (51)