SIX1

	Sine oculis homeobox homolog 1 (Drosophila)
	Identifiers
Symbol(s)	SIX1; BOS3; DFNA23; TIP39
External IDs	OMIM: 601205 MGI: 102780 Homologene: 4360
Gene ontology
Molecular Function:	• transcription factor activity; • protein binding; • sequence-specific DNA binding;
Cellular Component:	• nucleus; • transcription factor complex;
Biological Process:	• ureteric bud development; • regulation of transcription, DNA-dependent; • multicellular organismal development; • striated muscle development; • inner ear morphogenesis; • regulation of neuron differentiation; • embryonic skeletal morphogenesis; • myoblast migration;
	RNA expression pattern
	Image:PBB GE SIX1 205817 at tn.png More reference expression data
	Orthologs

You don't need to be Editor-In-Chief to add or edit content to WikiDoc. You can begin to add to or edit text on this WikiDoc page by clicking on the edit button at the top of this page. Next enter or edit the information that you would like to appear here. Once you are done editing, scroll down and click the Save page button at the bottom of the page.

(Redirected from Six-1)

Jump to: navigation, search

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

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.

This protein-related article is a stub. You can help WikiDoc by expanding it.

Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

[1]

SIX1

References

Further reading

Acknowledgement and Attribution Regarding Sources of Content

Views

Personal tools

Navigation

Help

Search

Toolbox