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SIX5
Identifiers
Aliases	SIX5, BOR2, DMAHP, SIX homeobox 5
External IDs	OMIM: 600963; MGI: 106220; HomoloGene: 72248; GeneCards: SIX5; OMA:SIX5 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.32 Start 45,764,785 bp End 45,769,252 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 A3|7 9.46 cM Start 18,828,519 bp End 18,832,474 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cardiac muscle tissue of right atrium right uterine tube right ovary myocardium of left ventricle left ovary parotid gland canal of the cervix right coronary artery left uterine tube body of uterus Top expressed in ascending aorta genital tubercle aortic valve corneal stroma tail of embryo cardiac muscle tissue of left ventricle ventricular zone molar Gonadal ridge male urethra More reference expression data BioGPS n/a
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding sequence-specific DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription cis-regulatory region binding DNA-binding transcription activator activity, RNA polymerase II-specific Cellular component nucleus cytoplasm transcription regulator complex Biological process multicellular organism development negative regulation of cell population proliferation lens development in camera-type eye negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated positive regulation of transcription by RNA polymerase II spermatid development negative regulation of skeletal muscle satellite cell proliferation anatomical structure development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 147912 20475 Ensembl ENSG00000177045 ENSMUSG00000040841 UniProt Q8N196 P70178 RefSeq (mRNA) NM_175875 NM_011383 RefSeq (protein) NP_787071 NP_035513 Location (UCSC) Chr 19: 45.76 – 45.77 Mb Chr 7: 18.83 – 18.83 Mb PubMed search
Wikidata
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Homeobox protein SIX5 is a protein that in humans is encoded by the SIX5 gene.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000177045 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000040841 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL (Apr 1996). "A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat". Hum Mol Genet. 4 (10): 1919–25. doi:10.1093/hmg/4.10.1919. PMID 8595416.
6. "Entrez Gene: SIX5 sine oculis homeobox homolog 5 (Drosophila)".

Further reading

• Murakami Y, Ohto H, Ikeda U, Shimada K, Momoi T, Kawakami K (1999). "Promoter of mDMAHP/Six5: differential utilization of multiple transcription initiation sites and positive/negative regulatory elements". Hum. Mol. Genet. 7 (13): 2103–12. doi:10.1093/hmg/7.13.2103. PMID 9817928.
• Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson KJ (1999). "Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy". Hum. Mol. Genet. 8 (3): 481–92. doi:10.1093/hmg/8.3.481. PMID 9949207.
• Ohto H, Kamada S, Tago K, Tominaga SI, Ozaki H, Sato S, Kawakami K (2000). "Cooperation of Six and Eya in Activation of Their Target Genes through Nuclear Translocation of Eya". Mol. Cell. Biol. 19 (10): 6815–24. doi:10.1128/mcb.19.10.6815. PMC 84678. PMID 10490620.
• Harris SE, Winchester CL, Johnson KJ (2000). "Functional analysis of the homeodomain protein SIX5". Nucleic Acids Res. 28 (9): 1871–8. doi:10.1093/nar/28.9.1871. PMC 103302. PMID 10756185.
• Winchester C, Robertson S, MacLeod T, Johnson K, Thomas M (2000). "Expression of a homeobox gene (SIX5) in borderline ovarian tumours". J. Clin. Pathol. 53 (3): 212–7. doi:10.1136/jcp.53.3.212. PMC 1731149. PMID 10823141.
• Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. hdl:10261/112516. PMID 11748221.
• Sato S, Nakamura M, Cho DH, Tapscott SJ, Ozaki H, Kawakami K (2002). "Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1". Hum. Mol. Genet. 11 (9): 1045–58. doi:10.1093/hmg/11.9.1045. PMID 11978764.
• Fougerousse F, Durand M, Lopez S, Suel L, Demignon J, Thornton C, Ozaki H, Kawakami K, Barbet P, Beckmann JS, Maire P (2003). "Six and Eya expression during human somitogenesis and MyoD gene family activation". J. Muscle Res. Cell. Motil. 23 (3): 255–64. doi:10.1023/A:1020990825644. PMID 12500905. S2CID 42497614.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
• Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F (2007). "Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome". Am. J. Hum. Genet. 80 (4): 800–4. doi:10.1086/513322. PMC 1852719. PMID 17357085.

External links

• FactorBook SIX5

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