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Protein BAZ1B PDB 1f62.png
Available structures
PDB Ortholog search: PDBe RCSB
Aliases BAZ1B, WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B
External IDs MGI: 1353499 HomoloGene: 22651 GeneCards: BAZ1B
Gene location (Human)
Chromosome 7 (human)
Chr. Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for BAZ1B
Genomic location for BAZ1B
Band 7q11.23 Start 73,440,398 bp[1]
End 73,522,278 bp[1]
RNA expression pattern
PBB GE BAZ1B 208445 s at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 7: 73.44 – 73.52 Mb Chr 5: 135.19 – 135.25 Mb
PubMed search [3] [4]
View/Edit Human View/Edit Mouse

Tyrosine-protein kinase BAZ1B is an enzyme that in humans is encoded by the BAZ1B gene.[5][6][7]


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.[7]

Animal models[edit]

Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1btm2a(KOMP)Wtsi,[8] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][12][13][14]

Six significant phenotypes were reported:[14]


BAZ1B has been shown to interact with:


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000009954 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002748 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Peoples RJ, Cisco MJ, Kaplan P, Francke U (Feb 1999). "Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23". Cytogenet Cell Genet. 82 (3–4): 238–46. doi:10.1159/000015110. PMID 9858827. 
  6. ^ Lu X, Meng X, Morris CA, Keating MT (Jan 1999). "A novel human gene, WSTF, is deleted in Williams syndrome". Genomics. 54 (2): 241–9. doi:10.1006/geno.1998.5578. PMID 9828126. 
  7. ^ a b "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B". 
  8. ^ KOMP. "Baz1btm2a(KOMP)Wtsi".  External link in |publisher= (help)
  9. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718. 
  10. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  11. ^ a b Van der Weyden L, White JK, Adams DA, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353. 
  12. ^ a b Karp NA, Baker LA, Gerdin AK, Adams NC, Ramírez-Solis R, White JK (2010). "Optimising experimental design for high-throughput phenotyping in mice: a case study". Mamm Genome. 21 (9–10): 467–76. doi:10.1007/s00335-010-9279-1. PMC 2974211Freely accessible. PMID 20799038. 
  13. ^ a b Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  14. ^ a b c Wellcome Trust Sanger Institute. "MGP Phenotyping of Baz1btm2a(KOMP)Wtsi". Mouse Resources Portal.  External link in |publisher= (help)
  15. ^ Wellcome Trust Sanger Institute. "Viability at Weaning Data for Baz1b". Mouse Resources Portal.  External link in |publisher= (help)
  16. ^ Wellcome Trust Sanger Institute. "Weight Curves Data for Baz1b". Mouse Resources Portal.  External link in |publisher= (help)
  17. ^ Wellcome Trust Sanger Institute. "Indirect Calorimetry Data for Baz1b". Mouse Resources Portal.  External link in |publisher= (help)
  18. ^ Wellcome Trust Sanger Institute. "Body Composition (DEXA) Data for Baz1b". Mouse Resources Portal.  External link in |publisher= (help)
  19. ^ Wellcome Trust Sanger Institute. "X-ray Imaging Data for Baz1b". Mouse Resources Portal.  External link in |publisher= (help)
  20. ^ Wellcome Trust Sanger Institute. "Salmonella Challenge Data for Baz1b". Mouse Resources Portal.  External link in |publisher= (help)
  21. ^ a b c d e f g Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (Jun 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi:10.1016/S0092-8674(03)00436-7. PMID 12837248. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.