FANCA (original) (raw)
Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells.
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| dbo:abstract | Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells. Mutations involving the FANCA gene are associated with many somatic and congenital defects, primarily involving phenotypic variations of Fanconi anaemia, aplastic anaemia, and forms of cancer such as squamous cell carcinoma and acute myeloid leukaemia. (en) FANCA (англ. Fanconi anemia complementation group A) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 16-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 455 амінокислот, а молекулярна маса — 162 775. 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 функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах, як пошкодження ДНК, репарація ДНК, альтернативний сплайсинг. Локалізований у цитоплазмі, ядрі. (uk) |
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| dbo:wikiPageWikiLink | dbr:Cancer dbr:Protein-protein_interaction dbr:FANCB dbr:FANCD2 dbr:FANCE dbr:FANCF dbr:FANCG dbr:FANCL dbr:Holliday_junction dbr:Homozygous dbr:Cytoplasm dbr:DNA-binding_domain dbr:DNA_damage_theory_of_aging dbr:DNA_repair dbr:ERCC4 dbr:Alu_sequence dbr:Reticulocyte dbr:Crosslink dbr:Meiosis dbr:Zygosity dbr:Gene dbr:Mutations dbr:Blood_cells dbr:Crosslinking_of_DNA dbr:Progenitor_cells dbr:Apoptosis dbr:Leukaemia dbr:Leukemia dbr:Mammalian dbr:Stem_cells dbr:Haematopoiesis dbr:Hematopoietic_stem_cell dbr:Ovary dbr:Pancytopenia dbr:HES1 dbr:Fanconi_anemia,_complementation_group_C dbr:SPTAN1 dbr:Amino_acids dbr:Exons dbr:Fanconi_anemia dbr:Fertility dbr:Ovarian_cyst dbr:Oxygen dbr:Cell_cycle_checkpoint dbr:Cell_division dbr:Cell_growth dbr:Cell_nucleus dbr:Chromosome dbr:Chromosome_16 dbr:Germ_cell dbr:Granulopoiesis dbr:Protein dbr:BRCA1 dbr:BRCA2 dbr:Telomere dbr:Hypogonadism dbr:Synapsis dbr:DsDNA dbr:Spermatocyte dbr:Diepoxybutane dbr:Assay dbr:Bone_marrow dbr:CHUK dbr:Phenotypes dbr:Aplastic_anaemia dbr:DNA_damage dbr:FANCC dbr:Infertility dbr:Autosomal_recessive_disorder dbr:IKK2 dbr:Immunoprecipitation dbr:SMARCA4 dbr:SNX5 dbr:Knockout_mice dbr:Stem_cell_transplant dbr:Myeloid dbr:Mitomycin dbr:Mitomycin-C dbr:Upregulation dbr:Yeast_two-hybrid_analysis dbr:Squamous_cell_carcinoma dbr:Ubiquitination dbr:Testis dbr:Anaemia dbr:Fanconi_anaemia dbr:Acute_myeloid_leukaemia dbr:Myelodysplastic_syndromes dbr:Coimmunoprecipitation dbr:Erythrocytes dbr:Compound_heterozygotes dbr:Lymphoblasts dbr:Lymphoid dbr:SsDNA dbr:Megaloblastic_anaemia |
| dbp:interpro | IPR003516 (en) |
| dbp:name | Fanconi anaemia group A protein (en) |
| dbp:pfam | PF03511 (en) |
| dbp:symbol | Fanconi_A (en) |
| dbp:wikiPageUsesTemplate | dbt:Div_col dbt:Div_col_end dbt:Infobox_gene dbt:Infobox_protein_family dbt:Reflist dbt:Short_description |
| gold:hypernym | dbr:Protein |
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| rdfs:comment | Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells. (en) FANCA (англ. Fanconi anemia complementation group A) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 16-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 455 амінокислот, а молекулярна маса — 162 775. 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 | FANCA (en) FANCA (uk) |
| owl:sameAs | freebase:FANCA http://www4.wiwiss.fu-berlin.de/diseasome/resource/genes/FANCA wikidata:FANCA http://tt.dbpedia.org/resource/FANCA dbpedia-uk:FANCA https://global.dbpedia.org/id/k6Qz |
| prov:wasDerivedFrom | wikipedia-en:FANCA?oldid=1118759203&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:FANCA |
| is dbo:wikiPageRedirects of | dbr:FANCA_(gene) dbr:Fanconi_anemia,_complementation_group_A |
| is dbo:wikiPageWikiLink of | dbr:FANCA_(gene) dbr:FANCB dbr:FANCD2 dbr:FANCE dbr:FANCF dbr:FANCG dbr:FANCI dbr:FANCL dbr:List_of_genetic_disorders dbr:List_of_human_protein-coding_genes_2 dbr:Fanconi_anemia,_complementation_group_C dbr:SPTAN1 dbr:Fanconi_anemia dbr:List_of_OMIM_disorder_codes dbr:BRCA1 dbr:Syndromic_microphthalmia dbr:Regenerative_Medicine_Advanced_Therapy dbr:CHUK dbr:Cancer_syndrome dbr:FANC_proteins dbr:IKK2 dbr:SMARCA4 dbr:SNX5 dbr:Fanconi_anemia,_complementation_group_A |
| is foaf:primaryTopic of | wikipedia-en:FANCA |