SIX1
From Wikipedia, the free encyclopedia
Homeobox protein SIX1 is a protein that in humans is encoded by the SIX1 gene.[1][2][3]
The vertebrate SIX genes are homologs of the Drosophila 'sine oculis' (so) gene, which is expressed primarily in the developing visual system of the fly. Members of the SIX gene family encode proteins that are characterized by a divergent DNA-binding homeodomain and an upstream SIX domain, which may be involved both in determining DNA-binding specificity and in mediating protein-protein interactions. Genes in the SIX family have been shown to play roles in vertebrate and insect development or have been implicated in maintenance of the differentiated state of tissues.[supplied by OMIM][3]
Interactions
SIX1 has been shown to interact with EYA1[4] and MDFI.[5]
References
- ↑ Boucher CA, Carey N, Edwards YH, Siciliano MJ, Johnson KJ (June 1996). "Cloning of the human SIX1 gene and its assignment to chromosome 14". Genomics 33 (1): 140–2. doi:10.1006/geno.1996.0172. PMID 8617500.
- ↑ Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proc Natl Acad Sci U S A 101 (21): 8090–5. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091.
- ↑ 3.0 3.1 "Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)".
- ↑ Buller, C; Xu X, Marquis V, Schwanke R, Xu P X (November 2001). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. (England) 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. ISSN 0964-6906. PMID 11734542.
- ↑ 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 (October 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.
Further reading
- Oliver G, Wehr R, Jenkins NA, et al. (1995). "Homeobox genes and connective tissue patterning". Development 121 (3): 693–705. PMID 7720577.
- Ford HL, Kabingu EN, Bump EA, et al. (1998). "Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis". Proc. Natl. Acad. Sci. U.S.A. 95 (21): 12608–13. doi:10.1073/pnas.95.21.12608. PMC 22878. PMID 9770533.
- Salam AA, Häfner FM, Linder TE, et al. (2001). "A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred". Am. J. Hum. Genet. 66 (6): 1984–8. doi:10.1086/302931. PMC 1378045. PMID 10777717.
- Ford HL, Landesman-Bollag E, Dacwag CS, et al. (2000). "Cell cycle-regulated phosphorylation of the human SIX1 homeodomain protein". J. Biol. Chem. 275 (29): 22245–54. doi:10.1074/jbc.M002446200. PMID 10801845.
- Fan X, Brass LF, Poncz M, et al. (2000). "The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins". J. Biol. Chem. 275 (41): 32129–34. doi:10.1074/jbc.M004577200. PMID 10906137.
- Buller C, Xu X, Marquis V, et al. (2002). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. PMID 11734542.
- Li CM, Guo M, Borczuk A, et al. (2002). "Gene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition". Am. J. Pathol. 160 (6): 2181–90. doi:10.1016/S0002-9440(10)61166-2. PMC 1850829. PMID 12057921.
- Ikeda K, Watanabe Y, Ohto H, Kawakami K (2002). "Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein". Mol. Cell. Biol. 22 (19): 6759–66. doi:10.1128/MCB.22.19.6759-6766.2002. PMC 134036. PMID 12215533.
- López-Ríos J, Tessmar K, Loosli F, et al. (2003). "Six3 and Six6 activity is modulated by members of the groucho family". Development 130 (1): 185–95. doi:10.1242/dev.00185. PMID 12441302.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ruf RG, Berkman J, Wolf MT, et al. (2003). "A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3". J. Med. Genet. 40 (7): 515–9. doi:10.1136/jmg.40.7.515. PMC 1735534. PMID 12843324.
- Zheng W, Huang L, Wei ZB, et al. (2003). "The role of Six1 in mammalian auditory system development". Development 130 (17): 3989–4000. doi:10.1242/dev.00628. PMID 12874121.
- Li X, Oghi KA, Zhang J, et al. (2003). "Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis". Nature 426 (6964): 247–54. doi:10.1038/nature02083. PMID 14628042.
- Coletta RD, Christensen K, Reichenberger KJ, et al. (2004). "The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1". Proc. Natl. Acad. Sci. U.S.A. 101 (17): 6478–83. doi:10.1073/pnas.0401139101. PMC 404070. PMID 15123840.
- Grifone R, Laclef C, Spitz F, et al. (2004). "Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype". Mol. Cell. Biol. 24 (14): 6253–67. doi:10.1128/MCB.24.14.6253-6267.2004. PMC 434262. PMID 15226428.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Ito T, Noguchi Y, Yashima T, Kitamura K (2006). "SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome". Laryngoscope 116 (5): 796–9. doi:10.1097/01.mlg.0000209096.40400.96. PMID 16652090.
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