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Sine oculis homeobox homolog 3 (Drosophila)
Identifiers
Symbols SIX3; HPE2
External IDs OMIM603714 MGI102764 HomoloGene3947 GeneCards: SIX3 Gene
RNA expression pattern
PBB GE SIX3 206634 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6496 20473
Ensembl ENSG00000138083 ENSMUSG00000038805
UniProt O95343 Q4QQQ3
RefSeq (mRNA) NM_005413 XM_985177
RefSeq (protein) NP_005404 XP_990271
Location (UCSC) Chr 2:
45.02 - 45.03 Mb
Chr 17:
85.53 - 85.54 Mb
PubMed search [1] [2]

Homeobox protein SIX3 is a protein that in humans is encoded by the SIX3 gene.[1][2][3]

Interactions

SIX3 has been shown to interact with TLE1[4] and Neuron-derived orphan receptor 1.[5][6]

References

  1. ^ Granadino B, Gallardo ME, Lopez-Rios J, Sanz R, Ramos C, Ayuso C, Bovolenta P, Rodriguez de Cordoba S (Mar 1999). "Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene". Genomics 55 (1): 100–5. PMID 9889003.  
  2. ^ Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M (Jun 1999). "Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly". Nat Genet 22 (2): 196–8. doi:10.1038/9718. PMID 10369266.  
  3. ^ "Entrez Gene: SIX3 sine oculis homeobox homolog 3 (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6496.  
  4. ^ López-Ríos, Javier; Tessmar Kristin, Loosli Felix, Wittbrodt Joachim, Bovolenta Paola (Jan. 2003). "Six3 and Six6 activity is modulated by members of the groucho family". Development (England) 130 (1): 185–95. ISSN 0950-1991. PMID 12441302.  
  5. ^ Laflamme, Cynthia; Filion Christine, Bridge Julia A, Ladanyi Marc, Goldring Mary B, Labelle Yves (Jan. 2003). "The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas". Cancer Res. (United States) 63 (2): 449–54. ISSN 0008-5472. PMID 12543801.  
  6. ^ Ohkura, N; Ohkubo T, Maruyama K, Tsukada T, Yamaguchi K (2001). "The orphan nuclear receptor NOR-1 interacts with the homeobox containing protein Six3". Dev. Neurosci. (Switzerland) 23 (1): 17–24. ISSN 0378-5866. PMID 11173923.  

Further reading

  • Hecht BK, Hecht F, Münke M (1991). "Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band 2p21.". Am. J. Med. Genet. 40 (1): 130. doi:10.1002/ajmg.1320400131. PMID 1887845.  
  • Leppert GS, Yang JM, Sundin OH (1999). "Sequence and location of SIX3, a homeobox gene expressed in the human eye.". Ophthalmic Genet. 20 (1): 7–21. PMID 10415461.  
  • Ohto H, Kamada S, Tago K, et al. (2000). "Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya.". Mol. Cell. Biol. 19 (10): 6815–24. PMID 10490620.  
  • Mikkola I, Bruun JA, Holm T, Johansen T (2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins.". J. Biol. Chem. 276 (6): 4109–18. doi:10.1074/jbc.M008882200. PMID 11069920.  
  • Ohkura N, Ohkubo T, Maruyama K, et al. (2001). "The orphan nuclear receptor NOR-1 interacts with the homeobox containing protein Six3.". Dev. Neurosci. 23 (1): 17–24. PMID 11173923.  
  • Lengler J, Graw J (2001). "Regulation of the human SIX3 gene promoter.". Biochem. Biophys. Res. Commun. 287 (2): 372–6. doi:10.1006/bbrc.2001.5605. PMID 11554737.  
  • Zhu CC, Dyer MA, Uchikawa M, et al. (2002). "Six3-mediated auto repression and eye development requires its interaction with members of the Groucho-related family of co-repressors.". Development 129 (12): 2835–49. PMID 12050133.  
  • 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.  
  • Laflamme C, Filion C, Bridge JA, et al. (2003). "The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas.". Cancer Res. 63 (2): 449–54. PMID 12543801.  
  • Del Bene F, Tessmar-Raible K, Wittbrodt J (2004). "Direct interaction of geminin and Six3 in eye development.". Nature 427 (6976): 745–9. doi:10.1038/nature02292. PMID 14973488.  
  • Dubourg C, Lazaro L, Pasquier L, et al. (2004). "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.". Hum. Mutat. 24 (1): 43–51. doi:10.1002/humu.20056. PMID 15221788.  
  • Laflamme C, Filion C, Labelle Y (2005). "Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.". Hum. Mutat. 24 (6): 502–8. doi:10.1002/humu.20102. PMID 15523651.  
  • Pasquier L, Dubourg C, Gonzales M, et al. (2006). "First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.". J. Med. Genet. 42 (1): e4. doi:10.1136/jmg.2004.023416. PMID 15635066.  
  • Bendavid C, Dubourg C, Gicquel I, et al. (2007). "Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.". Hum. Genet. 119 (1-2): 1–8. doi:10.1007/s00439-005-0097-6. PMID 16323008.  
  • Manavathi B, Peng S, Rayala SK, et al. (2007). "Repression of Six3 by a corepressor regulates rhodopsin expression.". Proc. Natl. Acad. Sci. U.S.A. 104 (32): 13128–33. doi:10.1073/pnas.0705878104. PMID 17666527.  
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