Details for: TWNK

Gene ID: 56652

Symbol: TWNK

Ensembl ID: ENSG00000107815

Description: twinkle mtDNA helicase

Associated with

Other Information

Genular Protein ID: 4283150273

Symbol: PEO1_HUMAN

Name: Progressive external ophthalmoplegia 1 protein

UniProtKB Accession Codes:

Q96RR1 B2CQL2 Q6MZX2 Q6PJP5 Q96RR0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 7 EMDB 2 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11431692

Title: Human mitochondrial DNA deletions associated with mutations in the gene for Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

PubMed ID: 11431692

DOI: 10.1038/90058

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12975372

Title: TWINKLE has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein.

PubMed ID: 12975372

DOI: 10.1074/jbc.m306981200

PubMed ID: 15167897

Title: Reconstitution of a minimal mtDNA replisome in vitro.

PubMed ID: 15167897

DOI: 10.1038/sj.emboj.7600257

PubMed ID: 15509589

Title: Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.

PubMed ID: 15509589

DOI: 10.1093/hmg/ddh342

PubMed ID: 14739292

Title: DNA and RNA binding by the mitochondrial lon protease is regulated by nucleotide and protein substrate.

PubMed ID: 14739292

DOI: 10.1074/jbc.m309642200

PubMed ID: 15181170

Title: Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

PubMed ID: 15181170

DOI: 10.1093/nar/gkh634

PubMed ID: 17324440

Title: Modular architecture of the hexameric human mitochondrial DNA helicase.

PubMed ID: 17324440

DOI: 10.1016/j.jmb.2007.01.079

PubMed ID: 18039713

Title: The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities.

PubMed ID: 18039713

DOI: 10.1093/nar/gkm1025

PubMed ID: 18971204

Title: Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.

PubMed ID: 18971204

DOI: 10.1093/hmg/ddn359

PubMed ID: 22383523

Title: Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase.

PubMed ID: 22383523

DOI: 10.1074/jbc.m111.309468

PubMed ID: 25824949

Title: The hexameric structure of the human mitochondrial replicative helicase Twinkle.

PubMed ID: 25824949

DOI: 10.1093/nar/gkv189

PubMed ID: 26887820

Title: Homologous DNA strand exchange activity of the human mitochondrial DNA helicase TWINKLE.

PubMed ID: 26887820

DOI: 10.1093/nar/gkw098

PubMed ID: 27226550

Title: Biochemical Characterization of the Human Mitochondrial Replicative Twinkle Helicase: SUBSTRATE SPECIFICITY, DNA BRANCH MIGRATION, AND ABILITY TO OVERCOME BLOCKADES TO DNA UNWINDING.

PubMed ID: 27226550

DOI: 10.1074/jbc.m115.712026

PubMed ID: 30496414

Title: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.

PubMed ID: 30496414

DOI: 10.1093/hmg/ddy415

PubMed ID: 34950192

Title: Implications of Membrane Binding by the Fe-S Cluster-Containing N-Terminal Domain in the Drosophila Mitochondrial Replicative DNA Helicase.

PubMed ID: 34950192

DOI: 10.3389/fgene.2021.790521

PubMed ID: 35914129

Title: Structural insight and characterization of human Twinkle helicase in mitochondrial disease.

PubMed ID: 35914129

DOI: 10.1073/pnas.2207459119

PubMed ID: 12163192

Title: Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

PubMed ID: 12163192

DOI: 10.1016/s0022-510x(02)00190-9

PubMed ID: 12557300

Title: The V368I mutation in Twinkle does not segregate with AdPEO.

PubMed ID: 12557300

DOI: 10.1002/ana.10430

PubMed ID: 12872260

Title: Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

PubMed ID: 12872260

DOI: 10.1002/humu.10246

PubMed ID: 12707443

Title: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PubMed ID: 12707443

DOI: 10.1212/01.wnl.0000056088.09408.3c

PubMed ID: 12921794

Title: A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

PubMed ID: 12921794

DOI: 10.1016/s0960-8966(03)00071-3

PubMed ID: 16135556

Title: Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

PubMed ID: 16135556

DOI: 10.1093/hmg/ddi328

PubMed ID: 15668446

Title: Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.

PubMed ID: 15668446

DOI: 10.1212/01.wnl.0000149767.51152.83

PubMed ID: 16639411

Title: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PubMed ID: 16639411

DOI: 10.1038/sj.ejhg.5201627

PubMed ID: 17722119

Title: Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

PubMed ID: 17722119

DOI: 10.1002/ana.21207

PubMed ID: 17921179

Title: Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

PubMed ID: 17921179

DOI: 10.1093/brain/awm242

PubMed ID: 17614277

Title: Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.

PubMed ID: 17614277

DOI: 10.1016/j.nmd.2007.05.006

PubMed ID: 18575922

Title: Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia.

PubMed ID: 18575922

DOI: 10.1007/s00415-008-0926-3

PubMed ID: 18396044

Title: Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.

PubMed ID: 18396044

DOI: 10.1016/j.nmd.2007.10.007

PubMed ID: 19353676

Title: Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

PubMed ID: 19353676

DOI: 10.1002/ajmg.a.32731

PubMed ID: 19428252

Title: Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

PubMed ID: 19428252

DOI: 10.1016/j.nmd.2009.04.008

PubMed ID: 19853444

Title: Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

PubMed ID: 19853444

DOI: 10.1016/j.nmd.2009.10.002

PubMed ID: 20479361

Title: The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

PubMed ID: 20479361

DOI: 10.1212/wnl.0b013e3181df099f

PubMed ID: 20880070

Title: TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

PubMed ID: 20880070

DOI: 10.1111/j.1468-1331.2010.03171.x

PubMed ID: 22353293

Title: Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.

PubMed ID: 22353293

DOI: 10.1016/j.pediatrneurol.2011.12.006

PubMed ID: 25355836

Title: Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

PubMed ID: 25355836

DOI: 10.1212/wnl.0000000000001036

Sequence Information:

  • Length: 684
  • Mass: 77154
  • Checksum: 58186043888234DA
  • Sequence:
    • MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM PVLPVTATEI 
RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF SLFIDKTTGH FLCMTSLAEG 
SWEDFQASVE GRGDGAREGF LLSKAPEFED SEEVRRIWNR AIPLWELPDQ EEVQLADTMF 
GLTKVTDDTL KRFSVRYLRP ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR 
PSAYHNLFGL PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ 
FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF NLSRILRTAL 
PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR ILKGHRKGEL TVFTGPTGSG 
KTTFISEYAL DLCSQGVNTL WGSFEISNVR LARVMLTQFA EGRLEDQLDK YDHWADRFED 
LPLYFMTFHG QQSIRTVIDT MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG 
VFRKFATDNN CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK 
RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK KPSSGKKGAT 
TQNSEICSGQ APTPDQPDTS KRSK

Genular Protein ID: 860712544

Symbol: Q9H6V3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9H6V3

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 EMBL 4 GO 4 Gene3D 2 GenomeRNAi 1 IntAct 1 InterPro 4 KEGG 1 MINT 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 4 SAM 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 506
  • Mass: 56990
  • Checksum: 4539009B486C3B71
  • Sequence:
    • MFGLTKVTDD TLKRFSVRYL RPARSLVFPW FSPGGSGLRG LKLLEAKCQG DGVSYEETTI 
PRPSAYHNLF GLPLISRRDA EVVLTSRELD SLALNQSTGL PTLTLPRGTT CLPPALLPYL 
EQFRRIVFWL GDDLRSWEAA KLFARKLNPK RCFLVRPGDQ QPRPLEALNG GFNLSRILRT 
ALPAWHKSIV SFRQLREEVL GELSNVEQAA GLRWSRFPDL NRILKGHRKG ELTVFTGPTG 
SGKTTFISEY ALDLCSQGVN TLWGSFEISN VRLARVMLTQ FAEGRLEDQL DKYDHWADRF 
EDLPLYFMTF HGQQSIRTVI DTMQHAVYVY DICHVIIDNL QFMMGHEQLS TDRIAAQDYI 
IGVFRKFATD NNCHVTLVIH PRKEDDDKEL QTASIFGSAK ASQEADNVLI LQDRKLVTGP 
GKRYLQVSKN RFDGDVGVFP LEFNKNSLTF SIPPKNKARL KKIKDDTGPV AKKPSSGKKG 
ATTQNSEICS GQAPTPDQPD TSKRSK

Genular Protein ID: 3966612936

Symbol: A0A2R8Y746_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2R8Y746

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 3 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 1 Proteomes 2 RefSeq 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

Sequence Information:

  • Length: 128
  • Mass: 14885
  • Checksum: F911761661FC50E7
  • Sequence:
    • MLTQFAEGRL EDQLDKYDHW ADRFEDLPLY FMTFHGQQSI RTVIDTMQHA VYVYDICHVI 
IDNLQFMMGH EQLSTDRIAA QDYIIGVFRK FATDNNCHVT LVIHPRKEDD DKELQTASIF 
GSAKVSGL

Genular Protein ID: 2424286567

Symbol: A0A2R8Y4V4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2R8Y4V4

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 3 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 1 Proteomes 2 RefSeq 3 SAM 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

Sequence Information:

  • Length: 230
  • Mass: 26023
  • Checksum: 94A191E5EC94B887
  • Sequence:
    • MLTQFAEGRL EDQLDKYDHW ADRFEDLPLY FMTFHGQQSI RTVIDTMQHA VYVYDICHVI 
IDNLQFMMGH EQLSTDRIAA QDYIIGVFRK FATDNNCHVT LVIHPRKEDD DKELQTASIF 
GSAKASQEAD NVLILQDRKL VTGPGKRYLQ VSKNRFDGDV GVFPLEFNKN SLTFSIPPKN 
KARLKKIKDD TGPVAKKPSS GKKGATTQNS EICSGQAPTP DQPDTSKRSK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.