SIX1

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Sine oculis homeobox homolog 1 (Drosophila)
Identifiers
Symbols SIX1 ; BOS3; DFNA23; TIP39
External IDs Template:OMIM5 Template:MGI HomoloGene4360
RNA expression pattern
File:PBB GE SIX1 205817 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Sine oculis homeobox homolog 1 (Drosophila), also known as SIX1, is a human gene.[1]

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][1]

References

  1. 1.0 1.1 "Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)".

Further reading

  • Oliver G, Wehr R, Jenkins NA; et al. (1995). "Homeobox genes and connective tissue patterning". Development. 121 (3): 693–705. PMID 7720577.
  • Boucher CA, Carey N, Edwards YH; et al. (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.
  • 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 15123840.
  • Ruf RG, Xu PX, Silvius D; et al. (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. PMID 15141091.
  • 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. 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. 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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