Homo sapiens Protein: TOP1MT | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-38319.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | TOP1MT | ||||||||||||||||||
Protein Name | topoisomerase (DNA) I, mitochondrial | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000328835 | ||||||||||||||||||
InnateDB Gene | IDBG-38317 (TOP1MT) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | 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 undergoes passage around the unbroken 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). {ECO:0000250}. | ||||||||||||||||||
Subcellular Localization | Mitochondrion {ECO:0000269PubMed:11526219}. | ||||||||||||||||||
Disease Associations | |||||||||||||||||||
Tissue Specificity | Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver. {ECO:0000269PubMed:11526219}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001631
DNA topoisomerase I IPR008336 DNA topoisomerase I, DNA binding, eukaryotic-type IPR011010 DNA breaking-rejoining enzyme, catalytic core IPR013499 DNA topoisomerase I, eukaryotic-type IPR013500 DNA topoisomerase I, catalytic core, eukaryotic-type |
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PFAM |
PF02919
PF01028 |
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PRINTS |
PR00416
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PIRSF | |||||||||||||||||||
SMART |
SM00435
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q969P6 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q969P6 | ||||||||||||||||||
TrEMBL | Q8TBP3 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 116447 | ||||||||||||||||||
UniGene | Hs.736862 | ||||||||||||||||||
RefSeq | NP_443195 | ||||||||||||||||||
HUGO | HGNC:29787 | ||||||||||||||||||
OMIM | 606387 | ||||||||||||||||||
CCDS | CCDS6400 | ||||||||||||||||||
HPRD | 16214 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC087793 AF349017 AF349018 AF349019 AF349020 AF349021 AF349022 AF349023 AF349024 AF349025 AF349026 AF349027 AF349028 AF349029 AF349030 AF349031 AK316380 BC027453 BC044646 BC052285 BC071914 HQ204988 HQ204989 HQ204990 HQ204992 HQ204997 HQ204998 HQ204999 HQ205000 HQ205001 HQ205002 HQ205005 HQ205006 HQ205007 HQ205008 HQ205009 HQ205011 HQ205012 HQ205014 HQ205015 HQ205016 HQ205017 HQ205018 HQ205020 HQ205023 | ||||||||||||||||||
GenPept | AAH27453 AAH44646 AAH52285 AAH71914 AAL05624 AAL10791 ADP90416 ADP90417 ADP90418 ADP90420 ADP90425 ADP90426 ADP90427 ADP90428 ADP90429 ADP90430 ADP90433 ADP90434 ADP90435 ADP90436 ADP90437 ADP90439 ADP90440 ADP90442 ADP90443 ADP90444 ADP90445 ADP90446 ADP90448 ADP90451 BAH14751 | ||||||||||||||||||