TWNK Q96RR1

Twinkle mtDNA解旋酶 (EC 5.6.2.3) (进行性眼外肌麻痹1蛋白) (线粒体内类核定位的T7 gp4样蛋白) (T7样线粒体DNA解旋酶) (Twinkle蛋白, 线粒体)

功能描述

[Isoform 1]: 参与mtDNA复制和修复的线粒体解旋酶 (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550)。可能在mtDNA修复中发挥作用 (PubMed:27226550)。具有形成前导链合成所需的过程性复制叉的DNA解链活性，该合成由与POLG和mtSDB形成复制体复合物催化 (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550)。优先解链具有预先存在的5'-和3'-单链尾的DNA底物，但对5'-flap底物也有活性 (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550)。能够解离固定或移动D-loop DNA结构的侵入链，而与第三条链的单链极性无关 (PubMed:27226550)。除了DNA解链活性外，还具有DNA链退火、DNA链交换和DNA分支迁移活性 (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]: 缺乏DNA解旋和ATP水解活性 (PubMed:18039713)。不结合单链或双链DNA (PubMed:18039713)。 {ECO:0000269|PubMed:18039713}.

组织特异性

High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.

亚细胞定位

Mitochondrion matrix, mitochondrion nucleoid