HFE
Внешний вид
HFE (ингл. ) — аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә.[28][29]
Искәрмәләр
[үзгәртү | вики-текстны үзгәртү]- ↑ 1,0 1,1 UniProt
- ↑ 2,0 2,1 2,2 Feder J. N., A Gnirke, W Thomas et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis // Nature Genetics / M. Axton, T. Faial — NPG, 1996. — ISSN 1061-4036; 1546-1718 — doi:10.1038/NG0896-399 — PMID:8696333
- ↑ 3,0 3,1 3,2 3,3 3,4 Lebrón J. A., Bennett M. J., Vaughn D. E. et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor // Cell — Cell Press, Elsevier BV, 1998. — ISSN 0092-8674; 1097-4172 — doi:10.1016/S0092-8674(00)81151-4 — PMID:9546397
- ↑ 4,0 4,1 4,2 4,3 Feder J. N., Penny D. M., A Irrinki et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding // Proc. Natl. Acad. Sci. U.S.A. / M. R. Berenbaum — [Washington, etc.], USA: National Academy of Sciences [etc.], 1998. — ISSN 0027-8424; 1091-6490 — doi:10.1073/PNAS.95.4.1472 — PMID:9465039
- ↑ 5,0 5,1 A Waheed, S Parkkila, J Saarnio et al. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum // Proc. Natl. Acad. Sci. U.S.A. / M. R. Berenbaum — [Washington, etc.], USA: National Academy of Sciences [etc.], 1999. — ISSN 0027-8424; 1091-6490 — doi:10.1073/PNAS.96.4.1579 — PMID:9990067
- ↑ Hentze M. W., Muckenthaler M. U. The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation // Journal of Hepatology — Elsevier BV, 2012. — ISSN 0168-8278; 1600-0641 — doi:10.1016/J.JHEP.2012.06.015 — PMID:22728873
- ↑ 7,0 7,1 7,2 7,3 7,4 7,5 7,6 Bacharach E. Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells // J. Cell. Physio. — Wiley, 2005. — ISSN 0021-9541; 1097-4652 — doi:10.1002/JCP.20349 — PMID:15880641
- ↑ Ka C., Gac G. L., Dupradeau F. et al. The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein // Hum. Genet. — Springer Science+Business Media, 2005. — ISSN 0340-6717; 1432-1203 — doi:10.1007/S00439-005-1307-Y — PMID:15965644
- ↑ Liam S O'Driscoll, Carmo-Fonseca M. N-glycosylation is important for the correct intracellular localization of HFE and its ability to decrease cell surface transferrin binding // FEBS J. — Wiley-Blackwell, 2010. — ISSN 1742-464X; 0014-2956; 1742-4658; 1432-1033 — doi:10.1111/J.1742-4658.2010.07727.X — PMID:20618438
- ↑ A Waheed, S Parkkila, J Saarnio et al. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum // Proc. Natl. Acad. Sci. U.S.A. / M. R. Berenbaum — [Washington, etc.], USA: National Academy of Sciences [etc.], 1999. — ISSN 0027-8424; 1091-6490 — doi:10.1073/PNAS.96.4.1579 — PMID:9990067
- ↑ Hentze M. W., Muckenthaler M. U. The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation // Journal of Hepatology — Elsevier BV, 2012. — ISSN 0168-8278; 1600-0641 — doi:10.1016/J.JHEP.2012.06.015 — PMID:22728873
- ↑ Lebrón J. A., Bennett M. J., Vaughn D. E. et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor // Cell — Cell Press, Elsevier BV, 1998. — ISSN 0092-8674; 1097-4172 — doi:10.1016/S0092-8674(00)81151-4 — PMID:9546397
- ↑ 13,0 13,1 13,2 13,3 Bennett M. J., Lebrón J. A., Bjorkman P. J. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor // Nature / M. Skipper — NPG, Springer Science+Business Media, 2000. — ISSN 1476-4687; 0028-0836 — doi:10.1038/47417 — PMID:10638746
- ↑ 14,0 14,1 14,2 14,3 14,4 14,5 Cheng W. H., Zhao Y., Yu P. B. et al. HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression // Blood — American Society of Hematology, Elsevier BV, 2014. — ISSN 0006-4971; 1528-0020 — doi:10.1182/BLOOD-2014-01-552281 — PMID:24904118
- ↑ 15,0 15,1 15,2 15,3 15,4 15,5 Livstone M. S., Thomas P. D., Lewis S. E. et al. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium // Brief. Bioinform. — OUP, 2011. — ISSN 1467-5463; 1477-4054 — doi:10.1093/BIB/BBR042 — PMID:21873635
- ↑ 16,0 16,1 16,2 16,3 16,4 16,5 16,6 16,7 16,8 Waheed A., Britton R. S., Grubb J. H. et al. HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron // Arch. Biochem. Biophys. — Academic Press, Elsevier BV, 2008. — ISSN 0003-9861; 1096-0384 — doi:10.1016/J.ABB.2008.02.041 — PMID:18353247
- ↑ 17,00 17,01 17,02 17,03 17,04 17,05 17,06 17,07 17,08 17,09 17,10 17,11 17,12 17,13 17,14 17,15 17,16 17,17 17,18 17,19 17,20 17,21 17,22 17,23 17,24 GOA
- ↑ 18,0 18,1 18,2 William J H Griffiths, Cox T. M. Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells // J. Histochem. Cytochem. — SAGE Publishing, 2003. — ISSN 0022-1554; 1551-5044 — doi:10.1177/002215540305100507 — PMID:12704209
- ↑ 19,0 19,1 19,2 19,3 19,4 19,5 19,6 19,7 GOA
- ↑ 20,0 20,1 Bennett M. J., Lebrón J. A., Bjorkman P. J. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor // Nature / M. Skipper — NPG, Springer Science+Business Media, 2000. — ISSN 1476-4687; 0028-0836 — doi:10.1038/47417 — PMID:10638746
- ↑ Cheng W. H., Zhao Y., Yu P. B. et al. HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression // Blood — American Society of Hematology, Elsevier BV, 2014. — ISSN 0006-4971; 1528-0020 — doi:10.1182/BLOOD-2014-01-552281 — PMID:24904118
- ↑ Camaschella C., Girelli D., Ganz T. A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis // Haematologica — Ferrata Storti Foundation, 2011. — ISSN 0390-6078; 1592-8721; 1138-0381 — doi:10.3324/HAEMATOL.2010.033449 — PMID:21173098
- ↑ 23,0 23,1 23,2 23,3 Camaschella C., Girelli D., Ganz T. A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis // Haematologica — Ferrata Storti Foundation, 2011. — ISSN 0390-6078; 1592-8721; 1138-0381 — doi:10.3324/HAEMATOL.2010.033449 — PMID:21173098
- ↑ 24,0 24,1 24,2 24,3 Livstone M. S., Thomas P. D., Lewis S. E. et al. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium // Brief. Bioinform. — OUP, 2011. — ISSN 1467-5463; 1477-4054 — doi:10.1093/BIB/BBR042 — PMID:21873635
- ↑ 25,0 25,1 25,2 Lapointe R. The WT hemochromatosis protein HFE inhibits CD8⁺ T-lymphocyte activation // Eur. J. Immunol. — Wiley-Blackwell, 2014. — ISSN 0014-2980; 1521-4141 — doi:10.1002/EJI.201343955 — PMID:24643698
- ↑ 26,0 26,1 Roy C. N., Penny D. M., Feder J. N. et al. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells // J. Biol. Chem. / L. M. Gierasch — Baltimore [etc.]: American Society for Biochemistry and Molecular Biology, 1999. — ISSN 0021-9258; 1083-351X; 1067-8816 — doi:10.1074/JBC.274.13.9022 — PMID:10085150
- ↑ Roy C. N., Penny D. M., Feder J. N. et al. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells // J. Biol. Chem. / L. M. Gierasch — Baltimore [etc.]: American Society for Biochemistry and Molecular Biology, 1999. — ISSN 0021-9258; 1083-351X; 1067-8816 — doi:10.1074/JBC.274.13.9022 — PMID:10085150
- ↑ HUGO Gene Nomenclature Commitee, HGNC:29223 (ингл.). әлеге чыганактан 2015-10-25 архивланды. 18 сентябрь, 2017 тикшерелгән.
- ↑ UniProt, Q9ULJ7 (ингл.). 18 сентябрь, 2017 тикшерелгән.
Чыганаклар
[үзгәртү | вики-текстны үзгәртү]- Степанов В.М. (2005). Молекулярная биология. Структура и функция белков. Москва: Наука. ISBN 5-211-04971-3.(рус.)
- Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, Peter Walter (2002). Molecular Biology of the Cell (вид. 4th). Garland. ISBN 0815332181.(ингл.)
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