Format

Send to:

Choose Destination

Links from Books

    • Showing Current items.

    TWNK twinkle mtDNA helicase [ Homo sapiens (human) ]

    Gene ID: 56652, updated on 11-Jun-2017
    Official Symbol
    TWNKprovided by HGNC
    Official Full Name
    twinkle mtDNA helicaseprovided by HGNC
    Primary source
    HGNC:HGNC:1160
    See related
    Ensembl:ENSG00000107815 MIM:606075; Vega:OTTHUMG00000018917
    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]
    Orthologs
    Location:
    10q24.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (100987527..100994403)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102747293..102754159)

    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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21832

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    5'-3' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA unwinding involved in DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial DNA replication NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrion organization TAS
    Traceable Author Statement
    more info
     
    protein hexamerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from mitochondrial promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    mitochondrial twinkle protein
    progressive external ophthalmoplegia 1 protein
    NP_001157284.1
    NP_001157285.1
    NP_001157286.1
    NP_068602.2
    XP_011538277.1
    XP_016871926.1

    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
      5001..11866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163812.1NP_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, BC013349, CB112401, DB090322
      Consensus CDS
      CCDS53570.1
      UniProtKB/Swiss-Prot
      Q96RR1
      UniProtKB/TrEMBL
      Q9H6V3
      Related
      ENSP00000359248.1, OTTHUMP00000020297, ENST00000370228.1, OTTHUMT00000049887
      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_001163813.1NP_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, BQ643363, CB112401
      UniProtKB/TrEMBL
      Q9H6V3
      Conserved Domains (1) summary
      cl21455
      Location:1178
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001163814.1NP_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
      UniProtKB/TrEMBL
      Q9H6V3
      Conserved Domains (1) summary
      cl21455
      Location:1126
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_021830.4NP_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, CB112401, DB090322
      Consensus CDS
      CCDS7506.1
      UniProtKB/Swiss-Prot
      Q96RR1
      UniProtKB/TrEMBL
      E5KSY5, Q9H6V3
      Related
      ENSP00000309595.2, OTTHUMP00000020296, ENST00000311916.6, OTTHUMT00000049886
      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.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      100987527..100994403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539975.2XP_011538277.1  twinkle protein, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011538277.1

      Conserved Domains (1) summary
      cl21455
      Location:1178
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_017016437.1XP_016871926.1  twinkle protein, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl21455
      Location:1178
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. XR_001747142.1 RNA Sequence

    2. XR_001747144.1 RNA Sequence

    3. XR_945788.2 RNA Sequence

    4. XR_001747143.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      103031503..103038362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center