BAZ1B

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Tyrosine-protein kinase BAZ1B is an enzyme that in humans is encoded by the BAZ1B gene.

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.

Animal models

Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1b^{tm2a(KOMP)Wtsi}, 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.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.

Baz1b knockout mouse phenotype

Characteristic	Abnormal
Homozygote viability	Yes
Body weight	Yes
Hair follicle cycling	No
Anxiety	No
Modified SHIRPA	No
Grip strength	No
Dysmorphology	No
Indirect calorimetry	Yes
Glucose tolerance test	No
Auditory brainstem response	No
DEXA	Yes
Radiography	Yes
Body temperature	No
Eye morphology	No
Heart weight	No
Heart histology	No
Histology	No
Clinical chemistry	No
Plasma immunoglobulins	No
Haematology	No
Peripheral blood lymphocytes	No
Micronucleus test	No
Salmonella infection	Yes
Citrobacter infection	No
All tests and analysis from

Six significant phenotypes were reported:

• Fewer homozygous mutant mice survived to weaning than expected.
• Mutant mice had decreased body weights compared to wildtype control mice.
• Mutant mice showed increased activity, VO2 and energy expenditure, determined by indirect calorimetry.
• Radiography found teeth abnormalities.
• Dual-energy X-ray absorptiometry (DEXA) showed mutant female mice had a decrease in bone mineral density and content.
• Male heterozygous mice had higher bacterial counts after Salmonella infection.

Interactions

BAZ1B has been shown to interact with:

• CHAF1A,
• SMARCB1,
• SMARCC1,
• SMARCC2,
• SUPT16H
• TOP2B, and
• VDR.

Further reading

• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Jones MH, Hamana N, Nezu J, Shimane M (2000). "A novel family of bromodomain genes". Genomics. 63 (1): 40–5. doi:10.1006/geno.1999.6071. PMID 10662543.
• Pascual J, Martinez-Yamout M, Dyson HJ, Wright PE (2001). "Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor". J. Mol. Biol. 304 (5): 723–9. doi:10.1006/jmbi.2000.4308. PMID 11124022.
• Bozhenok L, Wade PA, Varga-Weisz P (2002). "WSTF–ISWI chromatin remodeling complex targets heterochromatic replication foci". EMBO J. 21 (9): 2231–41. doi:10.1093/emboj/21.9.2231. PMC 125993. PMID 11980720.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kitagawa H, Fujiki R, Yoshimura K, et al. (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.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Poot RA, Bozhenok L, van den Berg DL, et al. (2005). "The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci". Nat. Cell Biol. 6 (12): 1236–44. doi:10.1038/ncb1196. PMID 15543136.
• Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
• Fujiki R, Kim MS, Sasaki Y, et al. (2005). "Ligand-induced transrepression by VDR through association of WSTF with acetylated histones". EMBO J. 24 (22): 3881–94. doi:10.1038/sj.emboj.7600853. PMC 1283952. PMID 16252006.
• Percipalle P, Fomproix N, Cavellán E, et al. (2006). "The chromatin remodelling complex WSTF–SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription". EMBO Rep. 7 (5): 525–30. doi:10.1038/sj.embor.7400657. PMC 1479564. PMID 16514417.
• Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
• Cavellán E, Asp P, Percipalle P, Farrants AK (2006). "The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription". J. Biol. Chem. 281 (24): 16264–71. doi:10.1074/jbc.M600233200. PMID 16603771.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. 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.