SIX1

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SIX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSIX1, BOS3, DFNA23, TIP39, SIX homeobox 1
External IDsMGI: 102780 HomoloGene: 4360 GeneCards: SIX1
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for SIX1
Genomic location for SIX1
Band14q23.1Start60,643,415 bp[1]
End60,658,259 bp[1]
RNA expression pattern
PBB GE SIX1 205817 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005982

NM_009189

RefSeq (protein)

NP_005973

NP_033215

Location (UCSC)Chr 14: 60.64 – 60.66 MbChr 12: 73.04 – 73.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein SIX1 (Sineoculis homeobox homolog 1) is a protein that in humans is encoded by the SIX1 gene.[5][6][7]

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][7]

Interactions[edit]

SIX1 has been shown to interact with EYA1,[8] DACH, GRO and MDFI.[9]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000126778 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051367 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Boucher CA, Carey N, Edwards YH, Siciliano MJ, Johnson KJ (April 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)".
  8. ^ Buller C, Xu X, Marquis V, Schwanke R, Xu PX (November 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.
  9. ^ 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 (October 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]