HELQ | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | HELQ, HEL308, helicase, POLQ-like, helicase, POLQ like | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606769 MGI: 2176740 HomoloGene: 14667 GeneCards: HELQ | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Helicase, POLQ-like, also known as helicase Q, hel308 and Holliday junction migration protein, encoded by the gene HELQ1, is a DNA helicase found in humans, archea and many other organisms. [5]
The gene encoding this enzyme, HELQ1, is located on chromosome 4q21 in humans. [6] It is associated with the polymerase pathway. [7]
When first reported, Helicase Q was called " Holliday junction migration protein."
Like many proteins, Hel308 was named after a previously discovered protein to which it had some connection. In this case, the "Hel" stands for "human helicase" and the "308" is a reference to the Drosophila melanogaster protein Mus308, to which it is homologous. [8]
Hel308 is part of DNA helicase superfamily II, a group of enzymes that wind and unwind DNA. [5] Hel308 is found throughout archea and in some eukaryotes, including humans. [5] [8] It contains twenty exons. [9]
Helicase Q's principal role is in the DNA repair. Helicase Q was shown to play a role in the repair of DNA double-strand breaks and to prevent tandem duplications. [10] [11] More specifically, it plays a role in multiple pathways where stretches of homologous nucleotides are annealed, like microhomology-mediated end-joining and single-strand annealing. [12] Organisms with mutations in the gene encoding helicase Q are sensitive to replication-blocking lesions, such as interstrand DNA cross-links that interfere with the forking of DNA during replication. [5] [8] [13]
Hel308 is a large protein, 1101 amino acids in length, [6] with five separate domains. The third and fourth domains form a large central pore that holds single-stranded DNA. Its fifth domain acts as a brake by securing the single-strand DNA protruding through this pore. [14]
Mutations in HEL308 are associated with cancer of the pharynx and mouth. [7]
HELQ | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | HELQ, HEL308, helicase, POLQ-like, helicase, POLQ like | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606769 MGI: 2176740 HomoloGene: 14667 GeneCards: HELQ | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Helicase, POLQ-like, also known as helicase Q, hel308 and Holliday junction migration protein, encoded by the gene HELQ1, is a DNA helicase found in humans, archea and many other organisms. [5]
The gene encoding this enzyme, HELQ1, is located on chromosome 4q21 in humans. [6] It is associated with the polymerase pathway. [7]
When first reported, Helicase Q was called " Holliday junction migration protein."
Like many proteins, Hel308 was named after a previously discovered protein to which it had some connection. In this case, the "Hel" stands for "human helicase" and the "308" is a reference to the Drosophila melanogaster protein Mus308, to which it is homologous. [8]
Hel308 is part of DNA helicase superfamily II, a group of enzymes that wind and unwind DNA. [5] Hel308 is found throughout archea and in some eukaryotes, including humans. [5] [8] It contains twenty exons. [9]
Helicase Q's principal role is in the DNA repair. Helicase Q was shown to play a role in the repair of DNA double-strand breaks and to prevent tandem duplications. [10] [11] More specifically, it plays a role in multiple pathways where stretches of homologous nucleotides are annealed, like microhomology-mediated end-joining and single-strand annealing. [12] Organisms with mutations in the gene encoding helicase Q are sensitive to replication-blocking lesions, such as interstrand DNA cross-links that interfere with the forking of DNA during replication. [5] [8] [13]
Hel308 is a large protein, 1101 amino acids in length, [6] with five separate domains. The third and fourth domains form a large central pore that holds single-stranded DNA. Its fifth domain acts as a brake by securing the single-strand DNA protruding through this pore. [14]
Mutations in HEL308 are associated with cancer of the pharynx and mouth. [7]