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Gene Ontology Classifications
Symbol
Name
ID
Six1
sine oculis-related homeobox 1
MGI:102780

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Six1. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Ahmed M et al. (2012) EYA1 and SIX1 drive the neuronal developmental program in cooperation with the SWI/SNF chromatin-remodeling complex and SOX2 in the mammalian inner ear. Development, 139:1965-77. (PubMed:22513373)
  2. Ando Z et al. (2005) Slc12a2 is a direct target of two closely related homeobox proteins, Six1 and Six4. FEBS J, 272:3026-41. (PubMed:15955062)
  3. Bosman EA et al. (2009) Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. Dev Biol, 328:285-96. (PubMed:19389353)
  4. Buller C et al. (2001) Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. Hum Mol Genet, 10:2775-81. (PubMed:11734542)
  5. Bush KT et al. (2006) Development and differentiation of the ureteric bud into the ureter in the absence of a kidney collecting system. Dev Biol, 298:571-84. (PubMed:16934795)
  6. Grifone R et al. (2005) Six1 and Six4 homeoproteins are required for Pax3 and Mrf expression during myogenesis in the mouse embryo. Development, 132:2235-49. (PubMed:15788460)
  7. Grifone R et al. (2007) Eya1 and Eya2 proteins are required for hypaxial somitic myogenesis in the mouse embryo. Dev Biol, 302:602-16. (PubMed:17098221)
  8. Guo C et al. (2011) A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest, 121:1585-95. (PubMed:21364285)
  9. He G et al. (2010) Inactivation of Six2 in mouse identifies a novel genetic mechanism controlling development and growth of the cranial base. Dev Biol, 344:720-30. (PubMed:20515681)
  10. Kobayashi H et al. (2007) Six1 and Six4 are essential for Gdnf expression in the metanephric mesenchyme and ureteric bud formation, while Six1 deficiency alone causes mesonephric-tubule defects. Mech Dev, 124:290-303. (PubMed:17300925)
  11. Konishi Y et al. (2006) Six1 and Six4 promote survival of sensory neurons during early trigeminal gangliogenesis. Brain Res, 1116:93-102. (PubMed:16938278)
  12. Li X et al. (2003) Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis. Nature, 426:247-54. (PubMed:14628042)
  13. Nie X et al. (2011) Six1 regulates Grem1 expression in the metanephric mesenchyme to initiate branching morphogenesis. Dev Biol, 352:141-51. (PubMed:21281623)
  14. Nie X et al. (2010) SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation. Development, 137:755-65. (PubMed:20110314)
  15. Richard AF et al. (2011) Genesis of muscle fiber-type diversity during mouse embryogenesis relies on Six1 and Six4 gene expression. Dev Biol, 359:303-20. (PubMed:21884692)
  16. Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A, 101:8090-5. (PubMed:15141091)
  17. Sajithlal G et al. (2005) Eya 1 acts as a critical regulator for specifying the metanephric mesenchyme. Dev Biol, 284:323-36. (PubMed:16018995)
  18. Spitz F et al. (1998) Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site. Proc Natl Acad Sci U S A, 95:14220-5. (PubMed:9826681)
  19. Xu PX et al. (2003) Six1 is required for the early organogenesis of mammalian kidney. Development, 130:3085-94. (PubMed:12783782)
  20. Zhang H et al. (2009) Ski regulates muscle terminal differentiation by transcriptional activation of Myog in a complex with Six1 and Eya3. J Biol Chem, 284:2867-79. (PubMed:19008232)
  21. Zheng W et al. (2003) The role of Six1 in mammalian auditory system development. Development, 130:3989-4000. (PubMed:12874121)
  22. Zou D et al. (2006) Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. Dev Biol, 298:430-41. (PubMed:16916509)
  23. Zou D et al. (2004) Eya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes. Development, 131:5561-72. (PubMed:15496442)
  24. Zou D et al. (2006) Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1. Dev Biol, 293:499-512. (PubMed:16530750)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory