DISEASES

Disease-gene associations mined from literature

Literature on TOP1MT

TOP1MT [ENSP00000328835]

DNA topoisomerase I, mitochondrial; Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)- enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity); Belongs to the type IB topoisomerase family.

Synonyms:  TOP1MT,  TOP1MTp,  hTOP1MT,  E5KMK7,  E5RFE3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM