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    Twnk twinkle mtDNA helicase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 309441, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Twnkprovided by RGD
    Official Full Name
    twinkle mtDNA helicaseprovided by RGD
    Primary source
    RGD:1307884
    See related
    EnsemblRapid:ENSRNOG00000014935 AllianceGenome:RGD:1307884
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Peo1
    Summary
    Predicted to enable several functions, including 5'-3' DNA helicase activity; ATP hydrolysis activity; and identical protein binding activity. Involved in cellular response to glucose stimulus. Predicted to be located in mitochondrial nucleoid. Predicted to be active in mitochondrial chromosome. Human ortholog(s) of this gene implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7. Orthologous to human TWNK (twinkle mtDNA helicase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Muscle (RPKM 58.4), Liver (RPKM 57.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Twnk in Genome Data Viewer
    Location:
    1q54
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (253817074..253823958)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (243867568..243874802)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (264756060..264762892)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene SMC5-SMC6 complex localization factor 2 Neighboring gene large ribosomal subunit protein eL21-like Neighboring gene semaphorin 4G Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene PDZ domain containing 7 Neighboring gene sideroflexin 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. Hong D, et al. Muscle Nerve, 2010 Jan. PMID 19705478
    2. Mitochondria DNA replication and DNA methylation in the metabolic memory associated with continued progression of diabetic retinopathy. Tewari S, et al. Invest Ophthalmol Vis Sci, 2012 Jul 24. PMID 22743328, Free PMC Article
    3. Damaged mitochondrial DNA replication system and the development of diabetic retinopathy. Tewari S, et al. Antioxid Redox Signal, 2012 Aug 1. PMID 22229649, Free PMC Article
    4. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Goffart S, et al. Hum Mol Genet, 2009 Jan 15. PMID 18971204, Free PMC Article
    5. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Spelbrink JN, et al. Nat Genet, 2001 Jul. PMID 11431692

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A heterozygous missense mutation of c.1342A>G in the C10orf2 gene resulting in the p.448N>D mutation in the protein was found in the proband and four other affected family members.
      Title: Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 5'-3' DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA unwinding involved in DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA unwinding involved in DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to glucose stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein hexamerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial nucleoid ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    twinkle mtDNA helicase
    Names
    progressive external ophthalmoplegia 1 homolog
    twinkle protein, mitochondrial
    NP_001101069.1
    XP_008758651.1
    XP_008758652.1
    XP_008758653.1
    XP_017444776.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001107599.1 → NP_001101069.1  twinkle mtDNA helicase

      See identical proteins and their annotated locations for NP_001101069.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473986
      UniProtKB/TrEMBL
      A6JHH4, D3ZA68
      Related
      ENSRNOP00000034807.6, ENSRNOT00000031018.6
      Conserved Domains (2) summary
      cd01029
      Location:260 → 336
      TOPRIM_primases; The topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain found in the active site regions of bacterial DnaG-type primases and their homologs. Primases synthesize RNA primers for the initiation of DNA replication. DnaG type primases are ...
      cd01122
      Location:367 → 630
      Twinkle_C; C-terminal domain of Twinkle

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      253817074..253823958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008760430.4 → XP_008758652.1  twinkle mtDNA helicase isoform X2

      See identical proteins and their annotated locations for XP_008758652.1

      Conserved Domains (1) summary
      cl21455
      Location:1 → 178
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_008760429.4 → XP_008758651.1  twinkle mtDNA helicase isoform X1

      UniProtKB/TrEMBL
      D3ZA68
      Related
      ENSRNOP00000103462.1, ENSRNOT00000129580.1
      Conserved Domains (2) summary
      cd01029
      Location:260 → 336
      TOPRIM_primases; TOPRIM_primases: The topoisomerase-primase (TORPIM) nucleotidyl transferase/hydrolase domain found in the active site regions of bacterial DnaG-type primases and their homologs. Primases synthesize RNA primers for the initiation of DNA replication. DnaG ...
      cd01122
      Location:375 → 633
      GP4d_helicase; GP4d_helicase is a homohexameric 5'-3' helicases. Helicases couple NTP hydrolysis to the unwinding of nucleic acid duplexes into their component strands.

    3. XM_008760431.4 → XP_008758653.1  twinkle mtDNA helicase isoform X2

      See identical proteins and their annotated locations for XP_008758653.1

      Conserved Domains (1) summary
      cl21455
      Location:1 → 178
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_017589287.3 → XP_017444776.1  twinkle mtDNA helicase isoform X2

      Conserved Domains (1) summary
      cl21455
      Location:1 → 178
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    Nucleotide Protein Strain
    Heading Accession and Version

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