FANCA
From Wikipedia, the free encyclopedia
| Fanconi anemia, complementation group A | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | FANCA; FA; FA-H; FA1; FAA; FACA; FAH; FANCH | ||||||||||||
| External IDs | OMIM: 607139 MGI: 1341823 HomoloGene: 108 GeneCards: FANCA Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2175 | 14087 | |||||||||||
| Ensembl | ENSG00000187741 | ENSMUSG00000032815 | |||||||||||
| UniProt | O15360 | Q9JL70 | |||||||||||
| RefSeq (mRNA) | NM_000135.2 | NM_016925.3 | |||||||||||
| RefSeq (protein) | NP_000126.2 | NP_058621.2 | |||||||||||
| Location (UCSC) | Chr 16: 89.8 – 89.88 Mb |
Chr 8: 125.79 – 125.84 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Fanconi anemia, complementation group A, also known as FANCA, is a protein which in humans is encoded by the FANCA gene.[1]
Contents |
[edit] Function
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms.[1]
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[edit] Clinical significance
Mutations in this gene are the most common cause of Fanconi anemia.[1]
[edit] Interactions
FANCA has been shown to interact with ERCC4,[2] IKK2,[3] Fanconi anemia, complementation group C,[4][5][6][7][8][9][10][3] FANCG,[11][4][12][13][14][15][16][17][7][18][19][8][20][9][10][3][21][22] FANCF,[23][5][9] FANCE,[9][10][21][24] BRCA1,[25] SNX5,[26] SPTAN1,[27][6][2] SMARCA4[28][29] and CHUK.[29][3]
[edit] References
- ^ a b c "Entrez Gene: FANCA Fanconi anemia, complementation group A". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2175.
- ^ a b Sridharan, Deepa; Brown Monique, Lambert W Clark, McMahon Laura W, Lambert Muriel W (Mar. 2003). "Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links". J. Cell. Sci. (England) 116 (Pt 5): 823–35. doi:10.1242/jcs.00294. ISSN 0021-9533. PMID 12571280.
- ^ a b c d Otsuki, Tetsuya; Young David B, Sasaki Dennis T, Pando Matthew P, Li Jianwu, Manning Anthony, Hoekstra Merl, Hoatlin Maureen E, Mercurio Frank, Liu Johnson M (2002). "Fanconi anemia protein complex is a novel target of the IKK signalsome". J. Cell. Biochem. (United States) 86 (4): 613–23. doi:10.1002/jcb.10270. ISSN 0730-2312. PMID 12210728.
- ^ a b Garcia-Higuera, I; Kuang Y, Näf D, Wasik J, D'Andrea A D (Jul. 1999). "Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex". Mol. Cell. Biol. (UNITED STATES) 19 (7): 4866–73. ISSN 0270-7306. PMC 84285. PMID 10373536. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=84285.
- ^ a b de Winter, J P; van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper R J, Kruyt F A, Hoatlin M E, Joenje H (Nov. 2000). "The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG". Hum. Mol. Genet. (ENGLAND) 9 (18): 2665–74. doi:10.1093/hmg/9.18.2665. ISSN 0964-6906. PMID 11063725.
- ^ a b McMahon, L W; Walsh C E, Lambert M W (Nov. 1999). "Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex". J. Biol. Chem. (UNITED STATES) 274 (46): 32904–8. doi:10.1074/jbc.274.46.32904. ISSN 0021-9258. PMID 10551855.
- ^ a b Reuter, T; Herterich S, Bernhard O, Hoehn H, Gross H J (Jan. 2000). "Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system". Blood (UNITED STATES) 95 (2): 719–20. ISSN 0006-4971. PMID 10627486.
- ^ a b Thomashevski, Andrei; High Anthony A, Drozd Mary, Shabanowitz Jeffrey, Hunt Donald F, Grant Patrick A, Kupfer Gary M (Jun. 2004). "The Fanconi anemia core complex forms four complexes of different sizes in different subcellular compartments". J. Biol. Chem. (United States) 279 (25): 26201–9. doi:10.1074/jbc.M400091200. ISSN 0021-9258. PMID 15082718.
- ^ a b c d Meetei, Amom Ruhikanta; de Winter Johan P, Medhurst Annette L, Wallisch Michael, Waisfisz Quinten, van de Vrugt Henri J, Oostra Anneke B, Yan Zhijiang, Ling Chen, Bishop Colin E, Hoatlin Maureen E, Joenje Hans, Wang Weidong (Oct. 2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nat. Genet. (United States) 35 (2): 165–70. doi:10.1038/ng1241. ISSN 1061-4036. PMID 12973351.
- ^ a b c Taniguchi, Toshiyasu; D'Andrea Alan D (Oct. 2002). "The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC". Blood (United States) 100 (7): 2457–62. doi:10.1182/blood-2002-03-0860. ISSN 0006-4971. PMID 12239156.
- ^ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (Oct. 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- ^ Park, Su-Jung; Ciccone Samantha L M, Beck Brian D, Hwang Byounghoon, Freie Brian, Clapp D Wade, Lee Suk-Hee (Jul. 2004). "Oxidative stress/damage induces multimerization and interaction of Fanconi anemia proteins". J. Biol. Chem. (United States) 279 (29): 30053–9. doi:10.1074/jbc.M403527200. ISSN 0021-9258. PMID 15138265.
- ^ van de Vrugt, Henri J; Koomen Mireille, Berns Mariska A D, de Vries Yne, Rooimans Martin A, van der Weel Laura, Blom Eric, de Groot Jan, Schepers Rik J, Stone Stacie, Hoatlin Maureen E, Cheng Ngan Ching, Joenje Hans, Arwert Fré (Mar. 2002). "Characterization, expression and complex formation of the murine Fanconi anaemia gene product Fancg". Genes Cells (England) 7 (3): 333–42. doi:10.1046/j.1365-2443.2002.00518.x. ISSN 1356-9597. PMID 11918676.
- ^ Yagasaki, H; Adachi D, Oda T, Garcia-Higuera I, Tetteh N, D'Andrea A D, Futaki M, Asano S, Yamashita T (Dec. 2001). "A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA". Blood (United States) 98 (13): 3650–7. doi:10.1182/blood.V98.13.3650. ISSN 0006-4971. PMID 11739169.
- ^ Gordon, Susan M; Buchwald Manuel (Jul. 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems". Blood (United States) 102 (1): 136–41. doi:10.1182/blood-2002-11-3517. ISSN 0006-4971. PMID 12649160.
- ^ Huber, P A; Medhurst A L, Youssoufian H, Mathew C G (Feb. 2000). "Investigation of Fanconi anemia protein interactions by yeast two-hybrid analysis". Biochem. Biophys. Res. Commun. (UNITED STATES) 268 (1): 73–7. doi:10.1006/bbrc.1999.2055. ISSN 0006-291X. PMID 10652215.
- ^ Kruyt, F A; Abou-Zahr F, Mok H, Youssoufian H (Nov. 1999). "Resistance to mitomycin C requires direct interaction between the Fanconi anemia proteins FANCA and FANCG in the nucleus through an arginine-rich domain". J. Biol. Chem. (UNITED STATES) 274 (48): 34212–8. doi:10.1074/jbc.274.48.34212. ISSN 0021-9258. PMID 10567393.
- ^ Blom, Eric; van de Vrugt Henri J, de Vries Yne, de Winter Johan P, Arwert Fré, Joenje Hans (Jan. 2004). "Multiple TPR motifs characterize the Fanconi anemia FANCG protein". DNA Repair (Amst.) (Netherlands) 3 (1): 77–84. doi:10.1016/j.dnarep.2003.09.007. ISSN 1568-7864. PMID 14697762.
- ^ Kuang, Y; Garcia-Higuera I, Moran A, Mondoux M, Digweed M, D'Andrea A D (Sep. 2000). "Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity". Blood (UNITED STATES) 96 (5): 1625–32. ISSN 0006-4971. PMID 10961856.
- ^ Waisfisz, Q; de Winter J P, Kruyt F A, de Groot J, van der Weel L, Dijkmans L M, Zhi Y, Arwert F, Scheper R J, Youssoufian H, Hoatlin M E, Joenje H (Aug. 1999). "A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (18): 10320–5. doi:10.1073/pnas.96.18.10320. ISSN 0027-8424. PMC 17886. PMID 10468606. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=17886.
- ^ a b Medhurst, A L; Huber P A, Waisfisz Q, de Winter J P, Mathew C G (Feb. 2001). "Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway". Hum. Mol. Genet. (England) 10 (4): 423–9. doi:10.1093/hmg/10.4.423. ISSN 0964-6906. PMID 11157805.
- ^ Garcia-Higuera, I; Kuang Y, Denham J, D'Andrea A D (Nov. 2000). "The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex". Blood (UNITED STATES) 96 (9): 3224–30. ISSN 0006-4971. PMID 11050007.
- ^ Léveillé, France; Blom Eric, Medhurst Annette L, Bier Patrick, Laghmani El Houari, Johnson Mark, Rooimans Martin A, Sobeck Alexandra, Waisfisz Quinten, Arwert Fré, Patel K J, Hoatlin Maureen E, Joenje Hans, de Winter Johan P (Sep. 2004). "The Fanconi anemia gene product FANCF is a flexible adaptor protein". J. Biol. Chem. (United States) 279 (38): 39421–30. doi:10.1074/jbc.M407034200. ISSN 0021-9258. PMID 15262960.
- ^ Pace, Paul; Johnson Mark, Tan Wu Meng, Mosedale Georgina, Sng Chelvin, Hoatlin Maureen, de Winter Johan, Joenje Hans, Gergely Fanni, Patel K J (Jul. 2002). "FANCE: the link between Fanconi anaemia complex assembly and activity". EMBO J. (England) 21 (13): 3414–23. doi:10.1093/emboj/cdf355. ISSN 0261-4189. PMC 125396. PMID 12093742. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=125396.
- ^ Folias, Alexandra; Matkovic Mara, Bruun Donald, Reid Sonja, Hejna James, Grompe Markus, D'Andrea Alan, Moses Robb (Oct. 2002). "BRCA1 interacts directly with the Fanconi anemia protein FANCA". Hum. Mol. Genet. (England) 11 (21): 2591–7. doi:10.1093/hmg/11.21.2591. ISSN 0964-6906. PMID 12354784.
- ^ Otsuki, T; Kajigaya S, Ozawa K, Liu J M (Nov. 1999). "SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein". Biochem. Biophys. Res. Commun. (UNITED STATES) 265 (3): 630–5. doi:10.1006/bbrc.1999.1731. ISSN 0006-291X. PMID 10600472.
- ^ McMahon, L W; Sangerman J, Goodman S R, Kumaresan K, Lambert M W (Jun. 2001). "Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links". Biochemistry (United States) 40 (24): 7025–34. doi:10.1021/bi002917g. ISSN 0006-2960. PMID 11401546.
- ^ Otsuki, T; Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu J M (Nov. 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. (England) 10 (23): 2651–60. doi:10.1093/hmg/10.23.2651. ISSN 0964-6906. PMID 11726552.
- ^ a b Reuter, Tanja Y; Medhurst Annette L, Waisfisz Quinten, Zhi Yu, Herterich Sabine, Hoehn Holger, Gross Hans J, Joenje Hans, Hoatlin Maureen E, Mathew Christopher G, Huber Pia A J (Oct. 2003). "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport". Exp. Cell Res. (United States) 289 (2): 211–21. doi:10.1016/S0014-4827(03)00261-1. ISSN 0014-4827. PMID 14499622.
[edit] Further reading
- Marmo E (1976). "[Beta-adrenolytic agents in the treatment of hypertension]". La Clinica terapeutica 74 (3): 209–29. PMID 6186.
- Pronk JC, Gibson RA, Savoia A, et al. (1995). "Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.". Nat. Genet. 11 (3): 338–40. doi:10.1038/ng1195-338. PMID 7581462.
- Gschwend M, Levran O, Kruglyak L, et al. (1996). "A locus for Fanconi anemia on 16q determined by homozygosity mapping.". Am. J. Hum. Genet. 59 (2): 377–84. PMC 1914713. PMID 8755924. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1914713.
- Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al. (1996). "Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.". Nat. Genet. 14 (3): 320–3. doi:10.1038/ng1196-320. PMID 8896563.
- Apostolou, Sinoula; Whitmore, Scott A.; Crawford, Joanna; Lennon, Gregory; Sutherland, Grant R.; Callen, David F.; Lanzano, Leonarda; Savino, Maria et al (1996). "Positional cloning of the Fanconi anaemia group A gene. The Fanconi anaemia/breast cancer consortium.". Nat. Genet. 14 (3): 324–8. doi:10.1038/ng1196-324. PMID 8896564.
- Ianzano L, D'Apolito M, Centra M, et al. (1997). "The genomic organization of the Fanconi anemia group A (FAA) gene.". Genomics 41 (3): 309–14. doi:10.1006/geno.1997.4675. PMID 9169126.
- Levran O, Erlich T, Magdalena N, et al. (1998). "Sequence variation in the Fanconi anemia gene FAA.". Proc. Natl. Acad. Sci. U.S.A. 94 (24): 13051–6. doi:10.1073/pnas.94.24.13051. PMC 24261. PMID 9371798. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=24261.
- Joenje H, Oostra AB, Wijker M, et al. (1997). "Evidence for at least eight Fanconi anemia genes.". Am. J. Hum. Genet. 61 (4): 940–4. doi:10.1086/514881. PMC 1715980. PMID 9382107. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1715980.
- Kupfer GM, Näf D, Suliman A, et al. (1997). "The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex.". Nat. Genet. 17 (4): 487–90. doi:10.1038/ng1297-487. PMID 9398857.
- Savino M, Ianzano L, Strippoli P, et al. (1998). "Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.". Am. J. Hum. Genet. 61 (6): 1246–53. doi:10.1086/301632. PMC 1716093. PMID 9399890. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1716093.
- Levran O, Doggett NA, Auerbach AD (1998). "Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.". Hum. Mutat. 12 (3): 145–52. doi:10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G. PMID 9711872.
- Centra M, Memeo E, d'Apolito M, et al. (1998). "Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.". Genomics 51 (3): 463–7. doi:10.1006/geno.1998.5353. PMID 9721219.
- Näf D, Kupfer GM, Suliman A, et al. (1998). "Functional activity of the fanconi anemia protein FAA requires FAC binding and nuclear localization.". Mol. Cell. Biol. 18 (10): 5952–60. PMC 109181. PMID 9742112. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=109181.
- Yamashita T, Kupfer GM, Naf D, et al. (1998). "The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation.". Proc. Natl. Acad. Sci. U.S.A. 95 (22): 13085–90. doi:10.1073/pnas.95.22.13085. PMC 23717. PMID 9789045. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=23717.
- Nakamura A, Matsuura S, Tauchi H, et al. (1999). "Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.". J. Hum. Genet. 44 (1): 48–51. doi:10.1007/s100380050106. PMID 9929978.
- Wijker M, Morgan NV, Herterich S, et al. (1999). "Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.". Eur. J. Hum. Genet. 7 (1): 52–9. doi:10.1038/sj.ejhg.5200248. PMID 10094191.
- Kupfer G, Naf D, Garcia-Higuera I, et al. (1999). "A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.". Exp. Hematol. 27 (4): 587–93. doi:10.1016/S0301-472X(99)00022-3. PMID 10210316.
- Garcia-Higuera I, Kuang Y, Näf D, et al. (1999). "Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.". Mol. Cell. Biol. 19 (7): 4866–73. PMC 84285. PMID 10373536. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=84285.
- Jelesko JG, Harper R, Furuya M, Gruissem W (1999). "Rare germinal unequal crossing-over leading to recombinant gene formation and gene duplication in Arabidopsis thaliana.". Proc. Natl. Acad. Sci. U.S.A. 96 (18): 10302–7. doi:10.1073/pnas.96.18.10302. PMC 17883. PMID 10468603. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=17883.
- Waisfisz Q, de Winter JP, Kruyt FA, et al. (1999). "A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.". Proc. Natl. Acad. Sci. U.S.A. 96 (18): 10320–5. doi:10.1073/pnas.96.18.10320. PMC 17886. PMID 10468606. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=17886.
