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    Twnk twinkle mtDNA helicase [ Mus musculus (house mouse) ]

    Gene ID: 226153, updated on 31-Jan-2019

    Summary

    Official Symbol
    Twnkprovided by MGI
    Official Full Name
    twinkle mtDNA helicaseprovided by MGI
    Primary source
    MGI:MGI:2137410
    See related
    Ensembl:ENSMUSG00000025209
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PEO; Peo1; Twinl; D19Ertd626e
    Expression
    Ubiquitous expression in ovary adult (RPKM 14.3), colon adult (RPKM 12.5) and 28 other tissues See more
    Orthologs

    Genomic context

    See Twnk in Genome Data Viewer
    Location:
    19 C3; 19 38.19 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 19 NC_000085.6 (45005662..45012763)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (45081048..45087252)

    Chromosome 19 - NC_000085.6Genomic Context describing neighboring genes Neighboring gene SMC5-SMC6 complex localization factor 2 Neighboring gene RIKEN cDNA 4930414N06 gene Neighboring gene sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene leucine zipper, putative tumor suppressor 2 Neighboring gene PDZ domain containing 7 Neighboring gene sideroflexin 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Markers

    Homology

    Clone Names

    • MGC41750

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    5'-3' DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA helicase activity ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    DNA unwinding involved in DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial DNA replication ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrial transcription ISO
    Inferred from Sequence Orthology
    more info
     
    protein hexamerization ISO
    Inferred from Sequence Orthology
    more info
     
    protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    mitochondrial nucleoid ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrion HDA PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    twinkle protein, mitochondrial
    Names
    T7 gp4-like protein with intramitochondrial nucleoid localization
    progressive external ophthalmoplegia 1 protein homolog
    putative T7-like mitochodrial DNA helicase twinky
    NP_722491.2
    XP_006527066.1

    NCBI Reference Sequences (RefSeq)

    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_001348254.1NP_001335183.1  twinkle protein, mitochondrial isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC132957, AK054159, AV002195
      UniProtKB/TrEMBL
      Q3V303
      Conserved Domains (1) summary
      cl28885
      Location:1178
      RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
    2. NM_001348259.1NP_001335188.1  twinkle protein, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC132957, AV002195, BC034909
      UniProtKB/Swiss-Prot
      Q8CIW5
      Conserved Domains (1) summary
      cl28885
      Location:18235
      RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
    3. NM_153796.4NP_722491.2  twinkle protein, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_722491.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC132957, AK054159, AV002195, BF225236, CA534850, CA537258
      Consensus CDS
      CCDS29854.1
      UniProtKB/Swiss-Prot
      Q8CIW5
      UniProtKB/TrEMBL
      Q3V303
      Related
      ENSMUSP00000026227.2, ENSMUST00000026227.2
      Conserved Domains (3) summary
      cd01029
      Location:260336
      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 ...
      COG0305
      Location:366624
      DnaB; Replicative DNA helicase [Replication, recombination and repair]
      cd01122
      Location:375633
      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.

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000085.6 Reference GRCm38.p4 C57BL/6J

      Range
      45005662..45012763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527003.3XP_006527066.1  twinkle protein, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl28885
      Location:1178
      RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
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