SIX3

From Wikipedia, the free encyclopedia

Sine oculis homeobox homolog 3 (Drosophila)

Identifiers

SIX3; HPE2

External IDs

OMIM: 603714 MGI: 102764 HomoloGene: 3947

Gene ontology
Molecular Function:	• RNA polymerase II transcription factor activity, enhancer binding • protein binding • transcription repressor activity • sequence-specific DNA binding
Cellular Component:	• nucleus
Biological Process:	• eye development • regulation of transcription, DNA-dependent • multicellular organismal development • brain development • visual perception • negative regulation of transcription • negative regulation of Wnt receptor signaling pathway

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005413 (mRNA)
NP_005404 (protein)

XM_985177 (mRNA)
XP_990271 (protein)

Location

Chr 2: 45.02 - 45.03 Mb

Chr 17: 85.53 - 85.54 Mb

Pubmed search

[1]

[2]

Sine oculis homeobox homolog 3 (Drosophila), also known as SIX3, is a human gene.^[1]

[edit] References

^ Entrez Gene: SIX3 sine oculis homeobox homolog 3 (Drosophila).

[edit] 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.
Granadino B, Gallardo ME, López-Ríos J, et al. (1999). "Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.". Genomics 55 (1): 100–5. PMID 9889003.
Wallis DE, Roessler E, Hehr U, et al. (1999). "Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.". Nat. Genet. 22 (2): 196–8. doi:10.1038/9718. PMID 10369266.
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.