Biology:BAZ1B
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Tyrosine-protein kinase, or Bromodomain adjacent to zinc finger domain, 1B (BAZ1B) is an enzyme that in humans is encoded by the BAZ1B gene.[1][2][3]
Function
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.[3]
BAZ1B has been found to affect the activity of 448 other genes and is very important in the development of the neural crest and the face. Research suggests that changes in BAZ1B may have been involved in "self-domesticating" humans.[4][5]
References
- ↑ "Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23". Cytogenetics and Cell Genetics 82 (3–4): 238–46. Feb 1999. doi:10.1159/000015110. PMID 9858827.
- ↑ "A novel human gene, WSTF, is deleted in Williams syndrome". Genomics 54 (2): 241–9. December 1998. doi:10.1006/geno.1998.5578. PMID 9828126.
- ↑ 3.0 3.1 "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9031.
- ↑ "Dosage analysis of the 7q11. 23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.". Science Advances 5 (12): eaaw7908. December 2019. doi:10.1126/sciadv.aaw7908. PMID 31840056. Bibcode: 2019SciA....5.7908Z.
- ↑ Marshall, Michael (Dec 14, 2019). "A single gene controls how our faces develop when we are young". New Scientist. https://www.newscientist.com/article/2226104-a-single-gene-controls-how-our-faces-develop-when-we-are-young/.
Further reading
- The Washington University Genome Sequencing Cente (November 1998). "Toward a complete human genome sequence". Genome Research 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- "A novel family of bromodomain genes". Genomics 63 (1): 40–5. January 2000. doi:10.1006/geno.1999.6071. PMID 10662543.
- "Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor". Journal of Molecular Biology 304 (5): 723–9. December 2000. doi:10.1006/jmbi.2000.4308. PMID 11124022.
- "WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci". The EMBO Journal 21 (9): 2231–41. May 2002. doi:10.1093/emboj/21.9.2231. PMID 11980720.
- "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell 113 (7): 905–17. June 2003. doi:10.1016/S0092-8674(03)00436-7. PMID 12837248.
- "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America 101 (33): 12130–5. August 2004. doi:10.1073/pnas.0404720101. PMID 15302935. Bibcode: 2004PNAS..10112130B.
- "The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci". Nature Cell Biology 6 (12): 1236–44. December 2004. doi:10.1038/ncb1196. PMID 15543136.
- "Nucleolar proteome dynamics". Nature 433 (7021): 77–83. January 2005. doi:10.1038/nature03207. PMID 15635413. Bibcode: 2005Natur.433...77A.
- "Ligand-induced transrepression by VDR through association of WSTF with acetylated histones". The EMBO Journal 24 (22): 3881–94. November 2005. doi:10.1038/sj.emboj.7600853. PMID 16252006.
- "The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription". EMBO Reports 7 (5): 525–30. May 2006. doi:10.1038/sj.embor.7400657. PMID 16514417.
- "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America 103 (14): 5391–6. April 2006. doi:10.1073/pnas.0507066103. PMID 16565220. Bibcode: 2006PNAS..103.5391N.
- "The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription". The Journal of Biological Chemistry 281 (24): 16264–71. June 2006. doi:10.1074/jbc.M600233200. PMID 16603771.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. November 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
External links
- BAZ1B+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human BAZ1B genome location and BAZ1B gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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