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    TWNK twinkle mtDNA helicase [ Homo sapiens (human) ]

    Gene ID: 56652, updated on 26-Jul-2021

    Summary

    Official Symbol
    TWNKprovided by HGNC
    Official Full Name
    twinkle mtDNA helicaseprovided by HGNC
    Primary source
    HGNC:HGNC:1160
    See related
    Ensembl:ENSG00000107815 MIM:606075
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2
    Summary
    This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
    Expression
    Ubiquitous expression in testis (RPKM 6.0), lymph node (RPKM 3.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TWNK in Genome Data Viewer
    Location:
    10q24.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (100987543..100994403)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102747300..102754160)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene semaphorin 4G Neighboring gene microRNA 608 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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21832

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5'-3' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    twinkle protein, mitochondrial
    Names
    T7 gp4-like protein with intramitochondrial nucleoid localization
    T7 helicase-related protein with intramitochondrial nucleoid localization
    T7-like mitochondrial DNA helicase
    ataxin 8
    progressive external ophthalmoplegia 1 protein
    NP_001157284.1
    NP_001157285.1
    NP_001157286.1
    NP_001355204.1
    NP_068602.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_012624.1 RefSeqGene

      Range
      5008..11868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163812.2NP_001157284.1  twinkle protein, mitochondrial isoform B

      See identical proteins and their annotated locations for NP_001157284.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which introduces a novel stop codon, compared to variant 1. The encoded protein (isoform B; also known as Twinky) has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.
      Source sequence(s)
      AF292005, AK025485, AL133215, BC013349, DB090322
      Consensus CDS
      CCDS53570.1
      UniProtKB/Swiss-Prot
      Q96RR1
      UniProtKB/TrEMBL
      Q9H6V3
      Related
      ENSP00000359248.1, ENST00000370228.2
      Conserved Domains (2) summary
      cd01029
      Location:259335
      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 ...
      cl21455
      Location:374580
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001163813.2NP_001157285.1  twinkle protein, mitochondrial isoform C

      See identical proteins and their annotated locations for NP_001157285.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in exon 1 that results in the use of an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform C) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, compared to isoform A.
      Source sequence(s)
      AK025485, AL133215, BQ643363, CB112401
      Consensus CDS
      CCDS86136.1
      UniProtKB/TrEMBL
      Q9H6V3
      Related
      ENSP00000494326.1, ENST00000473656.5
      Conserved Domains (1) summary
      cd01122
      Location:1175
      Twinkle_C; C-terminal domain of Twinkle
    3. NM_001163814.2NP_001157286.1  twinkle protein, mitochondrial isoform D

      See identical proteins and their annotated locations for NP_001157286.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple splice site differences, compared to variant 1. The encoded protein (isoform D) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, and has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.
      Source sequence(s)
      AK025485, AL133215, CB112401
      Consensus CDS
      CCDS86137.1
      UniProtKB/TrEMBL
      Q9H6V3
      Related
      ENSP00000496012.1, ENST00000476766.5
      Conserved Domains (1) summary
      cl38936
      Location:1126
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_001368275.1NP_001355204.1  twinkle protein, mitochondrial isoform C

      Status: REVIEWED

      Source sequence(s)
      AL133215
      Conserved Domains (1) summary
      cd01122
      Location:1175
      Twinkle_C; C-terminal domain of Twinkle
    5. NM_021830.5NP_068602.2  twinkle protein, mitochondrial isoform A

      See identical proteins and their annotated locations for NP_068602.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (A; also known as Twinkle).
      Source sequence(s)
      AF292004, AK025485, AL133215, DB090322
      Consensus CDS
      CCDS7506.1
      UniProtKB/Swiss-Prot
      Q96RR1
      UniProtKB/TrEMBL
      E5KSY5, Q9H6V3
      Related
      ENSP00000309595.2, ENST00000311916.8
      Conserved Domains (2) summary
      cd01029
      Location:259335
      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:374632
      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.

    RNA

    1. NR_160738.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133215
      Related
      ENST00000643860.1
    2. NR_160739.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133215
    3. NR_160740.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133215
    4. NR_160741.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133215
    5. NR_160742.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133215

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      100987543..100994403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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