TWNK
UniProt ID: Q96RR1
Entrez ID: 56652
Protein name: Twinkle mtDNA helicase (EC 3.6.4.12) (Progressive external ophthalmoplegia 1 protein) (T7 gp4-like protein with intramitochondrial nucleoid localization) (T7-like mitochondrial DNA helicase) (Twinkle protein, mitochondrial)
External links: UniprotKB HGNC RefSeq COSMIC
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FUNCTION: [Isoform 1]: Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA repair (PubMed:27226550). Has DNA strand separat...
FUNCTION: [Isoform 1]: Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA repair (PubMed:27226550). Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand (PubMed:27226550). In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities (PubMed:22383523, PubMed:26887820, PubMed:27226550). {ECO:0000269|PubMed:12975372, ECO:0000269|PubMed:15167897, ECO:0000269|PubMed:17324440, ECO:0000269|PubMed:18039713, ECO:0000269|PubMed:18971204, ECO:0000269|PubMed:22383523, ECO:0000269|PubMed:25824949, ECO:0000269|PubMed:26887820, ECO:0000269|PubMed:27226550}.; FUNCTION: [Isoform 2]: Lack DNA unwinding and ATP hydrolysis activities (PubMed:18039713). Does not bind single-stranded or double-stranded DNA (PubMed:18039713). {ECO:0000269|PubMed:18039713}.
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GO - Biological processes (BP):
cellular response to glucose stimulus [GO:0071333]; DNA unwinding involved in DNA replication [GO:0006268]; mitochondrial DNA replication [GO:0006264]; mitochondrial transcription [GO:0006390]; protein hexamerization [GO:0034214]...
cellular response to glucose stimulus [GO:0071333]; DNA unwinding involved in DNA replication [GO:0006268]; mitochondrial DNA replication [GO:0006264]; mitochondrial transcription [GO:0006390]; protein hexamerization [GO:0034214]
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GO - Molecular function (MF):
5'-3' DNA helicase activity [GO:0043139]; ATP binding [GO:0005524]; ATP hydrolysis activity [GO:0016887]; DNA helicase activity [GO:0003678]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; single-stranded DNA binding [GO:0003697]...
5'-3' DNA helicase activity [GO:0043139]; ATP binding [GO:0005524]; ATP hydrolysis activity [GO:0016887]; DNA helicase activity [GO:0003678]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; single-stranded DNA binding [GO:0003697]
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GO - Cellular component (CC):
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]...
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]
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TWNK
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*NOTE: the Kaplan plots were collected from OncoLnc