ERCC4 (original) (raw)
ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ERCC1, ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination. ERCC1 and ERCC4 are the human gene names and Ercc1 and Ercc4 are the analogous mammalian gene names. Similar genes with similar functions are found in all eukaryotic organisms.
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| dbo:abstract | ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ERCC1, ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination. The nuclease enzyme ERCC1-XPF cuts specific structures of DNA. Many aspects of these two gene products are described together here because they are partners during DNA repair. The ERCC1-XPF nuclease is an essential activity in the pathway of DNA nucleotide excision repair (NER). The ERCC1-XPF nuclease also functions in pathways to repair double-strand breaks in DNA, and in the repair of "crosslink" damage that harmfully links the two DNA strands. Cells with disabling mutations in ERCC4 are more sensitive than normal to particular DNA damaging agents, including ultraviolet radiation and to chemicals that cause crosslinking between DNA strands. Genetically engineered mice with disabling mutations in ERCC4 also have defects in DNA repair, accompanied by metabolic stress-induced changes in physiology that result in premature aging. Complete deletion of ERCC4 is incompatible with viability of mice, and no human individuals have been found with complete (homozygous) deletion of ERCC4. Rare individuals in the human population harbor inherited mutations that impair the function of ERCC4. When the normal genes are absent, these mutations can lead to human syndromes, including xeroderma pigmentosum, Cockayne syndrome and Fanconi anemia. ERCC1 and ERCC4 are the human gene names and Ercc1 and Ercc4 are the analogous mammalian gene names. Similar genes with similar functions are found in all eukaryotic organisms. (en) ERCC4 (англ. ERCC excision repair 4, endonuclease catalytic subunit) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 16-ї хромосоми. Довжина поліпептидного ланцюга білка становить 916 амінокислот, а молекулярна маса — 104 486. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Кодований геном білок за функціями належить до гідролаз, нуклеаз, ендонуклеаз, фосфопротеїнів. Задіяний у таких біологічних процесах, як пошкодження ДНК, репарація ДНК, ацетилювання, альтернативний сплайсинг. Білок має сайт для зв'язування з ДНК, іоном магнію. Локалізований у ядрі. (uk) |
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| rdfs:comment | ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ERCC1, ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination. ERCC1 and ERCC4 are the human gene names and Ercc1 and Ercc4 are the analogous mammalian gene names. Similar genes with similar functions are found in all eukaryotic organisms. (en) ERCC4 (англ. ERCC excision repair 4, endonuclease catalytic subunit) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 16-ї хромосоми. Довжина поліпептидного ланцюга білка становить 916 амінокислот, а молекулярна маса — 104 486. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин (uk) |
| rdfs:label | ERCC4 (en) ERCC4 (uk) |
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| foaf:depiction | wiki-commons:Special:FilePath/Fig_2_XPF_Substrate_Wikigene.png wiki-commons:Special:FilePath/Fig_1_XPF_Wikigene.png |
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