SIX1

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SIX homeobox 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SIX1 ; BOS3; DFNA23; TIP39
External IDs OMIM601205 MGI102780 HomoloGene4360 GeneCards: SIX1 Gene
RNA expression pattern
PBB GE SIX1 205817 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6495 20471
Ensembl ENSG00000126778 ENSMUSG00000051367
UniProt Q15475 Q62231
RefSeq (mRNA) NM_005982 NM_009189
RefSeq (protein) NP_005973 NP_033215
Location (UCSC) Chr 14:
60.64 – 60.66 Mb
Chr 12:
73.04 – 73.05 Mb
PubMed search [1] [2]

Homeobox protein SIX1 (Sineoculis homeobox homolog 1) is a protein that in humans is encoded by the SIX1 gene.[1][2][3]

Function[edit]

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][3]

Interactions[edit]

SIX1 has been shown to interact with EYA1[4], DACH, GRO and MDFI.[5]

References[edit]

  1. ^ Boucher CA, Carey N, Edwards YH, Siciliano MJ, Johnson KJ (Apr 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. 
  2. ^ Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy of Sciences of the United States of America 101 (21): 8090–5. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091. 
  3. ^ a b "Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)". 
  4. ^ Buller C, Xu X, Marquis V, Schwanke R, Xu PX (Nov 2001). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Human Molecular Genetics 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. PMID 11734542. 
  5. ^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 

Further reading[edit]