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]
^ abcGRCh38: Ensembl release 89: ENSG00000126778 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000051367 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^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. Bibcode:2004PNAS..101.8090R. doi:10.1073/pnas.0308475101. PMC419562. PMID 15141091.
^ ab"Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)".
^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.
^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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Adrados I, Larrasa-Alonso J, Galarreta A, López-Antona I, Menéndez C, Abad M, Palmero I (2015). "The homeoprotein SIX1 controls cellular senescence through the regulation of p16INK4A and differentiation-related genes". Oncogene. 35 (27): 3485–3494. doi:10.1038/onc.2015.408. PMC5730042. PMID 26500063.
Ford HL, Kabingu EN, Bump EA, Mutter GL, Pardee AB (October 1998). "Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis". Proceedings of the National Academy of Sciences of the United States of America. 95 (21): 12608–13. Bibcode:1998PNAS...9512608F. doi:10.1073/pnas.95.21.12608. PMC22878. PMID 9770533.
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM (June 2000). "A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred". American Journal of Human Genetics. 66 (6): 1984–8. doi:10.1086/302931. PMC1378045. PMID 10777717.
Ford HL, Landesman-Bollag E, Dacwag CS, Stukenberg PT, Pardee AB, Seldin DC (July 2000). "Cell cycle-regulated phosphorylation of the human SIX1 homeodomain protein". The Journal of Biological Chemistry. 275 (29): 22245–54. doi:10.1074/jbc.M002446200. PMID 10801845.
Fan X, Brass LF, Poncz M, Spitz F, Maire P, Manning DR (October 2000). "The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins". The Journal of Biological Chemistry. 275 (41): 32129–34. doi:10.1074/jbc.M004577200. PMID 10906137.
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.
Li CM, Guo M, Borczuk A, Powell CA, Wei M, Thaker HM, Friedman R, Klein U, Tycko B (June 2002). "Gene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition". The American Journal of Pathology. 160 (6): 2181–90. doi:10.1016/S0002-9440(10)61166-2. PMC1850829. PMID 12057921.
Ikeda K, Watanabe Y, Ohto H, Kawakami K (October 2002). "Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein". Molecular and Cellular Biology. 22 (19): 6759–66. doi:10.1128/MCB.22.19.6759-6766.2002. PMC134036. PMID 12215533.
López-Ríos J, Tessmar K, Loosli F, Wittbrodt J, Bovolenta P (January 2003). "Six3 and Six6 activity is modulated by members of the groucho family". Development. 130 (1): 185–95. doi:10.1242/dev.00185. PMID 12441302.
Ruf RG, Berkman J, Wolf MT, Nurnberg P, Gattas M, Ruf EM, Hyland V, Kromberg J, Glass I, Macmillan J, Otto E, Nurnberg G, Lucke B, Hennies HC, Hildebrandt F (July 2003). "A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3". Journal of Medical Genetics. 40 (7): 515–9. doi:10.1136/jmg.40.7.515. PMC1735534. PMID 12843324.
Zheng W, Huang L, Wei ZB, Silvius D, Tang B, Xu PX (September 2003). "The role of Six1 in mammalian auditory system development". Development. 130 (17): 3989–4000. doi:10.1242/dev.00628. PMC3873880. PMID 12874121.
Li X, Oghi KA, Zhang J, Krones A, Bush KT, Glass CK, Nigam SK, Aggarwal AK, Maas R, Rose DW, Rosenfeld MG (November 2003). "Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis". Nature. 426 (6964): 247–54. Bibcode:2003Natur.426..247L. doi:10.1038/nature02083. PMID 14628042. S2CID 4348941.
Coletta RD, Christensen K, Reichenberger KJ, Lamb J, Micomonaco D, Huang L, Wolf DM, Müller-Tidow C, Golub TR, Kawakami K, Ford HL (April 2004). "The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1". Proceedings of the National Academy of Sciences of the United States of America. 101 (17): 6478–83. Bibcode:2004PNAS..101.6478C. doi:10.1073/pnas.0401139101. PMC404070. PMID 15123840.
Grifone R, Laclef C, Spitz F, Lopez S, Demignon J, Guidotti JE, Kawakami K, Xu PX, Kelly R, Petrof BJ, Daegelen D, Concordet JP, Maire P (July 2004). "Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype". Molecular and Cellular Biology. 24 (14): 6253–67. doi:10.1128/MCB.24.14.6253-6267.2004. PMC434262. PMID 15226428.
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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Ito T, Noguchi Y, Yashima T, Kitamura K (May 2006). "SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome". The Laryngoscope. 116 (5): 796–9. doi:10.1097/01.mlg.0000209096.40400.96. PMID 16652090. S2CID 19273457.
This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.
homeobox, protein, six1, sine, oculis, homeobox, homolog, protein, that, humans, encoded, six1, gene, six1available, structurespdbortholog, search, pdbe, rcsblist, codes4egcidentifiersaliasessix1, bos3, dfna23, tip39, homeobox, 1external, idsomim, 601205, 1027. Homeobox protein SIX1 Sine oculis homeobox homolog 1 is a protein that in humans is encoded by the SIX1 gene 5 6 7 SIX1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes4EGCIdentifiersAliasesSIX1 BOS3 DFNA23 TIP39 SIX homeobox 1External IDsOMIM 601205 MGI 102780 HomoloGene 4360 GeneCards SIX1Gene location Human Chr Chromosome 14 human 1 Band14q23 1Start60 643 421 bp 1 End60 658 259 bp 1 Gene location Mouse Chr Chromosome 12 mouse 2 Band12 C3 12 30 34 cMStart73 086 789 bp 2 End73 100 661 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inparotid glandbronchial epithelial cellvastus lateralis musclebody of tonguetriceps brachii musclepalpebral conjunctivagastrocnemius muscledeltoid muscleAchilles tendonsynovial jointTop expressed inextensor digitorum longus muscleplantaris muscleparotid glandlacrimal glandsacculesoleus muscletriceps brachii musclesternocleidomastoid muscleskeletal muscle tissueintercostal muscleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding sequence specific DNA binding DNA binding transcription factor activity DNA binding transcription activator activity RNA polymerase II specific chromatin binding RNA polymerase II cis regulatory region sequence specific DNA binding protein binding DNA binding transcription factor activity RNA polymerase II specific transcription coactivator binding transcription cis regulatory region bindingCellular componentcytoplasm transcription regulator complex nucleolus nucleusBiological processpattern specification process negative regulation of neuron apoptotic process regulation of neuron differentiation embryonic skeletal system morphogenesis mesonephric tubule formation neurogenesis animal organ development ureteric bud development myoblast migration positive regulation of branching involved in ureteric bud morphogenesis renal system development regulation of transcription DNA templated epithelial cell differentiation olfactory placode formation regulation of skeletal muscle cell differentiation tongue development organ induction kidney development anatomical structure development thymus development ureter smooth muscle cell differentiation neuron fate specification myotome development skeletal system morphogenesis outflow tract morphogenesis trigeminal ganglion development negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II sensory perception of sound aorta morphogenesis regulation of branch elongation involved in ureteric bud branching fungiform papilla morphogenesis transcription DNA templated generation of neurons otic vesicle development regulation of protein localization positive regulation of transcription DNA templated multicellular organism development branching involved in ureteric bud morphogenesis thyroid gland development inner ear morphogenesis cochlea morphogenesis positive regulation of ureteric bud formation positive regulation of mesenchymal cell proliferation involved in ureter development middle ear morphogenesis regulation of synaptic assembly at neuromuscular junction protein localization to nucleus regulation of gene expression embryonic cranial skeleton morphogenesis inner ear development positive regulation of secondary heart field cardioblast proliferation negative regulation of branching involved in ureteric bud morphogenesis cell population proliferation regulation of epithelial cell proliferation regulation of skeletal muscle satellite cell proliferation skeletal muscle tissue development metanephric mesenchyme development facial nerve morphogenesis positive regulation of transcription by RNA polymerase II pharyngeal system development apoptotic process transcription by RNA polymerase II cellular response to 3 3 5 triiodo L thyronine negative regulation of transcription DNA templated regulation of skeletal muscle cell proliferation skeletal muscle fiber developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez649520471EnsemblENSG00000126778ENSMUSG00000051367UniProtQ15475Q62231RefSeq mRNA NM 005982NM 009189RefSeq protein NP 005973NP 033215Location UCSC Chr 14 60 64 60 66 MbChr 12 73 09 73 1 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 Further readingFunction editThe 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 editSIX1 has been shown to interact with EYA1 8 DACH GRO and MDFI 9 References edit a b c GRCh38 Ensembl release 89 ENSG00000126778 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000051367 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 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 Bibcode 2004PNAS 101 8090R doi 10 1073 pnas 0308475101 PMC 419562 PMID 15141091 a b Entrez Gene SIX1 sine oculis homeobox homolog 1 Drosophila 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 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 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 Further reading editOliver G Wehr R Jenkins NA Copeland NG Cheyette BN Hartenstein V Zipursky SL Gruss P March 1995 Homeobox genes and connective tissue patterning Development 121 3 693 705 doi 10 1242 dev 121 3 693 hdl 11858 00 001M 0000 0013 037D E PMID 7720577 Adrados I Larrasa Alonso J Galarreta A Lopez Antona I Menendez C Abad M Palmero I 2015 The homeoprotein SIX1 controls cellular senescence through the regulation of p16INK4A and differentiation related genes Oncogene 35 27 3485 3494 doi 10 1038 onc 2015 408 PMC 5730042 PMID 26500063 Ford HL Kabingu EN Bump EA Mutter GL Pardee AB October 1998 Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1 a possible mechanism of breast carcinogenesis Proceedings of the National Academy of Sciences of the United States of America 95 21 12608 13 Bibcode 1998PNAS 9512608F doi 10 1073 pnas 95 21 12608 PMC 22878 PMID 9770533 Salam AA Hafner FM Linder TE Spillmann T Schinzel AA Leal SM June 2000 A novel locus DFNA23 for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21 q22 in a Swiss German kindred American Journal of Human Genetics 66 6 1984 8 doi 10 1086 302931 PMC 1378045 PMID 10777717 Ford HL Landesman Bollag E Dacwag CS Stukenberg PT Pardee AB Seldin DC July 2000 Cell cycle regulated phosphorylation of the human SIX1 homeodomain protein The Journal of Biological Chemistry 275 29 22245 54 doi 10 1074 jbc M002446200 PMID 10801845 Fan X Brass LF Poncz M Spitz F Maire P Manning DR October 2000 The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2 preventing its interaction with the six class of homeodomain containing proteins The Journal of Biological Chemistry 275 41 32129 34 doi 10 1074 jbc M004577200 PMID 10906137 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 Li CM Guo M Borczuk A Powell CA Wei M Thaker HM Friedman R Klein U Tycko B June 2002 Gene expression in Wilms tumor mimics the earliest committed stage in the metanephric mesenchymal epithelial transition The American Journal of Pathology 160 6 2181 90 doi 10 1016 S0002 9440 10 61166 2 PMC 1850829 PMID 12057921 Ikeda K Watanabe Y Ohto H Kawakami K October 2002 Molecular interaction and synergistic activation of a promoter by Six Eya and Dach proteins mediated through CREB binding protein Molecular and Cellular Biology 22 19 6759 66 doi 10 1128 MCB 22 19 6759 6766 2002 PMC 134036 PMID 12215533 Lopez Rios J Tessmar K Loosli F Wittbrodt J Bovolenta P January 2003 Six3 and Six6 activity is modulated by members of the groucho family Development 130 1 185 95 doi 10 1242 dev 00185 PMID 12441302 Ruf RG Berkman J Wolf MT Nurnberg P Gattas M Ruf EM Hyland V Kromberg J Glass I Macmillan J Otto E Nurnberg G Lucke B Hennies HC Hildebrandt F July 2003 A gene locus for branchio otic syndrome maps to chromosome 14q21 3 q24 3 Journal of Medical Genetics 40 7 515 9 doi 10 1136 jmg 40 7 515 PMC 1735534 PMID 12843324 Zheng W Huang L Wei ZB Silvius D Tang B Xu PX September 2003 The role of Six1 in mammalian auditory system development Development 130 17 3989 4000 doi 10 1242 dev 00628 PMC 3873880 PMID 12874121 Li X Oghi KA Zhang J Krones A Bush KT Glass CK Nigam SK Aggarwal AK Maas R Rose DW Rosenfeld MG November 2003 Eya protein phosphatase activity regulates Six1 Dach Eya transcriptional effects in mammalian organogenesis Nature 426 6964 247 54 Bibcode 2003Natur 426 247L doi 10 1038 nature02083 PMID 14628042 S2CID 4348941 Coletta RD Christensen K Reichenberger KJ Lamb J Micomonaco D Huang L Wolf DM Muller Tidow C Golub TR Kawakami K Ford HL April 2004 The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1 Proceedings of the National Academy of Sciences of the United States of America 101 17 6478 83 Bibcode 2004PNAS 101 6478C doi 10 1073 pnas 0401139101 PMC 404070 PMID 15123840 Grifone R Laclef C Spitz F Lopez S Demignon J Guidotti JE Kawakami K Xu PX Kelly R Petrof BJ Daegelen D Concordet JP Maire P July 2004 Six1 and Eya1 expression can reprogram adult muscle from the slow twitch phenotype into the fast twitch phenotype Molecular and Cellular Biology 24 14 6253 67 doi 10 1128 MCB 24 14 6253 6267 2004 PMC 434262 PMID 15226428 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 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 Ito T Noguchi Y Yashima T Kitamura K May 2006 SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio oto syndrome The Laryngoscope 116 5 796 9 doi 10 1097 01 mlg 0000209096 40400 96 PMID 16652090 S2CID 19273457 nbsp This article on a gene on human chromosome 14 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Homeobox protein SIX1 amp oldid 1170468707, wikipedia, wiki, book, books, library,
