SIX5

Protein-coding gene in the species Homo sapiens
SIX5
Identifiers
AliasesSIX5, BOR2, DMAHP, SIX homeobox 5
External IDsOMIM: 600963; MGI: 106220; HomoloGene: 72248; GeneCards: SIX5; OMA:SIX5 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for SIX5
Genomic location for SIX5
Band19q13.32Start45,764,785 bp[1]
End45,769,252 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for SIX5
Genomic location for SIX5
Band7 A3|7 9.46 cMStart18,828,519 bp[2]
End18,832,474 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • parotid gland

  • canal of the cervix

  • right coronary artery

  • left uterine tube

  • body of pancreas

  • popliteal artery

  • gastric mucosa

  • left coronary artery

  • ascending aorta
Top expressed in
  • ascending aorta

  • aortic valve

  • corneal stroma

  • molar

  • male urethra

  • major salivary gland

  • interventricular septum

  • tracheobronchial tree

  • maxillary prominence

  • lens
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
SpeciesHumanMouse
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 MbChr 7: 18.83 – 18.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein SIX5 is a protein that in humans is encoded by the SIX5 gene.[5][6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000177045 – Ensembl, May 2017
  2. ^ a b c 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

  • v
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  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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