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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Tyrosine-protein kinase BAZ1B''' is an [[enzyme]] that in humans is encoded by the ''BAZ1B'' [[gene]].<ref name="pmid9858827">{{cite journal | vauthors = Peoples RJ, Cisco MJ, Kaplan P, Francke U | title = Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23 | journal = Cytogenet Cell Genet | volume = 82 | issue = 3–4 | pages = 238–46 |date=Feb 1999 | pmid = 9858827 | pmc =  | doi =10.1159/000015110  }}</ref><ref name="pmid9828126">{{cite journal | vauthors = Lu X, Meng X, Morris CA, Keating MT | title = A novel human gene, WSTF, is deleted in Williams syndrome | journal = Genomics | volume = 54 | issue = 2 | pages = 241–9 |date=Jan 1999 | pmid = 9828126 | pmc = | doi = 10.1006/geno.1998.5578 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9031| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==Function==
{{GNF_Protein_box
| image = PBB_Protein_BAZ1B_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1f62.
| PDB = {{PDB2|1f62}}
| Name = Bromodomain adjacent to zinc finger domain, 1B
| HGNCid = 961
| Symbol = BAZ1B
| AltSymbols =; WBSCR10; WBSCR9; WSTF
| OMIM = 605681
| ECnumber = 
| Homologene = 22651
| MGIid = 1353499
| GeneAtlas_image1 = PBB_GE_BAZ1B_208445_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0000793 |text = condensed chromosome}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005721 |text = centric heterochromatin}}
| Process = {{GNF_GO|id=GO:0006333 |text = chromatin assembly or disassembly}} {{GNF_GO|id=GO:0006338 |text = chromatin remodeling}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 9031
    | Hs_Ensembl = ENSG00000009954
    | Hs_RefseqProtein = NP_075381
    | Hs_RefseqmRNA = NM_023005
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 72492669
    | Hs_GenLoc_end = 72574551
    | Hs_Uniprot = Q9UIG0
    | Mm_EntrezGene = 22385
    | Mm_Ensembl = ENSMUSG00000002748
    | Mm_RefseqmRNA = NM_011714
    | Mm_RefseqProtein = NP_035844
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 135471996
    | Mm_GenLoc_end = 135529194
    | Mm_Uniprot = Q3URP5
  }}
}}
'''Bromodomain adjacent to zinc finger domain, 1B''', also known as '''BAZ1B''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9031| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
 
| section_title =
==Animal models==
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9031| accessdate = }}</ref>
[[Model organism]]s have been used in the study of ''BAZ1B'' function. A [[conditional gene knockout|conditional]] [[knockout mouse]] line, called ''Baz1b<sup>tm2a(KOMP)Wtsi</sup>'',<ref>{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Baz1b |title=Baz1b<sup>tm2a(KOMP)Wtsi</sup> |author=KOMP |work= |publisher={{URL|www.knockoutmouse.org}}}}</ref> 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]].<ref name="Dolgin">{{cite journal |author=Dolgin E |title=Mouse library set to be knockout |journal=Nature|volume=474 |issue= 7351|pages=262–263 |date=June 2011 |pmid=21677718|doi=10.1038/474262a  |url=http://www.nature.com/news/2011/110615/full/474262a.html}}</ref><ref name="pmid17218247">{{cite journal |vauthors=Collins FS, Rossant J, Wurst W |title=A mouse for all reasons |journal=Cell |volume=128 |issue=1 |pages=9–13 |date=January 2007 |pmid=17218247 |doi=10.1016/j.cell.2006.12.018 |url=}}</ref><ref name="Vanderweyden">{{cite journal |vauthors=Van der Weyden L, White JK, Adams DA, Logan DW |title=The mouse genetics toolkit: revealing function and mechanism |journal=[[Genome Biology]]|volume=12 |issue=6 |page=224 |date=June 2011 |pmid=21722353|doi=10.1186/gb-2011-12-6-224  |url=http://genomebiology.com/2011/12/6/224 |pmc=3218837}}</ref>
}}
 
Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="Vanderweyden"/><ref name="pmid20799038">{{cite journal| vauthors=Karp NA, Baker LA, Gerdin AK, Adams NC, Ramírez-Solis R, White JK| title=Optimising experimental design for high-throughput phenotyping in mice: a case study | journal=Mamm Genome | year= 2010 | volume= 21 | issue= 9–10 | pages= 467–76 | pmid=20799038 | doi=10.1007/s00335-010-9279-1 | pmc=2974211 | url= }}</ref><ref name="Gerdin">{{cite journal |author=Gerdin AK|title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |journal=Acta Ophthalmologica |volume=88 |issue= |pages=925–7 |year=2010 |pmid= |pmc= |doi=10.1111/j.1755-3768.2010.4142.x}}</ref><ref name=screen>{{cite web |url=http://www.sanger.ac.uk/mouseportal/search?query=Baz1b |title=MGP Phenotyping of Baz1b<sup>tm2a(KOMP)Wtsi</sup>|author=Wellcome Trust Sanger Institute|author-link=Wellcome Trust Sanger Institute |work=Mouse Resources Portal |publisher={{URL|www.sanger.ac.uk}}}}</ref>
 
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
|+ ''Baz1b'' knockout mouse phenotype
|-
! Characteristic!! Abnormal
|-
| [[Homozygote]] viability || style="background:#ff9090;"|Yes<ref>{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MACW/viability-at-weaning/ |title=Viability at Weaning Data for Baz1b |author=Wellcome Trust Sanger Institute |work=Mouse Resources Portal |publisher={{URL|www.sanger.ac.uk}}}}</ref>
|-
| [[Body weight]] || style="background:#ff9090;"|Yes<ref>{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MACW/weight-curves/ |title=Weight Curves Data for Baz1b |author=Wellcome Trust Sanger Institute |work=Mouse Resources Portal |publisher={{URL|www.sanger.ac.uk}}}}</ref>
|-
| [[Hair follicle]] cycling|| style="background:#addfff;"|No
|-
| [[Anxiety]] || style="background:#addfff;"|No
|-
| Modified [[SHIRPA]] || style="background:#addfff;"|No
|-
| [[Grip strength]] || style="background:#addfff;"|No
|-
| [[Dysmorphology]] || style="background:#addfff;"|No
|-
| [[Indirect calorimetry]] || style="background:#ff9090;"|Yes<ref>{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MACW/indirect-calorimetry/ |title=Indirect Calorimetry Data for Baz1b |author=Wellcome Trust Sanger Institute |work=Mouse Resources Portal |publisher={{URL|www.sanger.ac.uk}}}}</ref>
|-
| [[Glucose tolerance test]] || style="background:#addfff;"|No
|-
| [[Auditory brainstem response]] || style="background:#addfff;"|No
|-
| [[DEXA]] || style="background:#ff9090;"|Yes<ref>{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MACW/body-composition-dexa/ |title=Body Composition (DEXA) Data for Baz1b |author=Wellcome Trust Sanger Institute |work=Mouse Resources Portal |publisher={{URL|www.sanger.ac.uk}}}}</ref>
|-
| [[Radiography]] || style="background:#ff9090;"|Yes<ref>{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MACW/x-ray-imaging/ |title=X-ray Imaging Data for Baz1b |author=Wellcome Trust Sanger Institute |work=Mouse Resources Portal |publisher={{URL|www.sanger.ac.uk}}}}</ref>
|-
| [[Body temperature]] || style="background:#addfff;"|No
|-
| Eye [[Morphology (biology)|morphology]] || style="background:#addfff;"|No
|-
| Heart weight || style="background:#addfff;"|No
|-
| Heart histology || style="background:#addfff;"|No
|-
| [[Histology]] || style="background:#addfff;"|No
|-
| [[Clinical chemistry]] || style="background:#addfff;"|No
|-
| [[Blood plasma|Plasma]] [[immunoglobulin]]s || style="background:#addfff;"|No
|-
| [[Haematology]] || style="background:#addfff;"|No
|-
| [[Peripheral blood lymphocytes]] || style="background:#addfff;"|No
|-
| [[Micronucleus test]] || style="background:#addfff;"|No
|-
| ''[[Salmonella]]'' infection|| style="background:#ff9090;"|Yes<ref>{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MACW/salmonella-challenge/ |title=Salmonella Challenge Data for Baz1b |author=Wellcome Trust Sanger Institute |work=Mouse Resources Portal |publisher={{URL|www.sanger.ac.uk}}}}</ref>
|-
| ''[[Citrobacter]]'' infection|| style="background:#addfff;"|No
|-
| colspan="2" style="text-align: center;" | All tests and analysis from <ref name="pmid20799038"/><ref name="Gerdin"/><ref name=screen/>
|}
 
Six significant [[phenotypes]] were reported:<ref name=screen/>
 
* Fewer [[homozygous]] mutant mice survived to [[weaning]] than expected.
* [[Mutant]] mice had decreased [[body weight]]s compared to [[wildtype]] control mice.
* Mutant mice showed increased activity, [[VO2 max|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 [[Protein–protein interaction|interact]] with:
* [[CHAF1A]],<ref name = pmid12837248>{{cite journal | date = Jun 2003 | vauthors = 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 | title = The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome | journal = Cell | volume = 113 | issue = 7 | pages = 905–17 | pmid = 12837248 | doi = 10.1016/S0092-8674(03)00436-7}}</ref>
* [[SMARCB1]],<ref name = pmid12837248/>
* [[SMARCC1]],<ref name = pmid12837248/>
* [[SMARCC2]],<ref name = pmid12837248/>
* [[SUPT16H]]<ref name = pmid12837248/>
* [[TOP2B]],<ref name = pmid12837248/> and
* [[Calcitriol receptor|VDR]].<ref name = pmid12837248/>
{{Clear}}


==References==
==References==
{{reflist|2}}
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |title=Toward a complete human genome sequence |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=  10.1101/gr.8.11.1097}}
| citations =
*{{cite journal  | vauthors=Jones MH, Hamana N, Nezu J, Shimane M |title=A novel family of bromodomain genes |journal=Genomics |volume=63 |issue= 1 |pages= 40–5 |year= 2000 |pmid= 10662543 |doi= 10.1006/geno.1999.6071 }}
*{{cite journal  | author=Lu X, Meng X, Morris CA, Keating MT |title=A novel human gene, WSTF, is deleted in Williams syndrome. |journal=Genomics |volume=54 |issue= 2 |pages= 241-9 |year= 1999 |pmid= 9828126 |doi= 10.1006/geno.1998.5578 }}
*{{cite journal  | vauthors=Pascual J, Martinez-Yamout M, Dyson HJ, Wright PE |title=Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor |journal=J. Mol. Biol. |volume=304 |issue= 5 |pages= 723–9 |year= 2001 |pmid= 11124022 |doi= 10.1006/jmbi.2000.4308 }}
*{{cite journal  | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097-108 |year= 1999 |pmid= 9847074 |doi=  }}
*{{cite journal  | vauthors=Bozhenok L, Wade PA, Varga-Weisz P |title=WSTF–ISWI chromatin remodeling complex targets heterochromatic replication foci |journal=EMBO J. |volume=21 |issue= 9 |pages= 2231–41 |year= 2002 |pmid= 11980720 |doi= 10.1093/emboj/21.9.2231 | pmc=125993 }}
*{{cite journal  | author=Peoples RJ, Cisco MJ, Kaplan P, Francke U |title=Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. |journal=Cytogenet. Cell Genet. |volume=82 |issue= 3-4 |pages= 238-46 |year= 1999 |pmid= 9858827 |doi=  }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Jones MH, Hamana N, Nezu J, Shimane M |title=A novel family of bromodomain genes. |journal=Genomics |volume=63 |issue= 1 |pages= 40-5 |year= 2000 |pmid= 10662543 |doi= 10.1006/geno.1999.6071 }}
*{{cite journal  | vauthors=Kitagawa H, Fujiki R, Yoshimura K |title=The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome |journal=Cell |volume=113 |issue= 7 |pages= 905–17 |year= 2003 |pmid= 12837248 |doi=10.1016/S0092-8674(03)00436-7 |display-authors=etal}}
*{{cite journal  | author=Pascual J, Martinez-Yamout M, Dyson HJ, Wright PE |title=Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor. |journal=J. Mol. Biol. |volume=304 |issue= 5 |pages= 723-9 |year= 2001 |pmid= 11124022 |doi= 10.1006/jmbi.2000.4308 }}
*{{cite journal  | vauthors=Hillier LW, Fulton RS, Fulton LA |title=The DNA sequence of human chromosome 7 |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 |display-authors=etal}}
*{{cite journal  | author=Bozhenok L, Wade PA, Varga-Weisz P |title=WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. |journal=EMBO J. |volume=21 |issue= 9 |pages= 2231-41 |year= 2002 |pmid= 11980720 |doi= 10.1093/emboj/21.9.2231 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Beausoleil SA, Jedrychowski M, Schwartz D |title=Large-scale characterization of HeLa cell nuclear phosphoproteins |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 | pmc=514446 |display-authors=etal}}
*{{cite journal  | author=Kitagawa H, Fujiki R, Yoshimura K, ''et al.'' |title=The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. |journal=Cell |volume=113 |issue= 7 |pages= 905-17 |year= 2003 |pmid= 12837248 |doi=  }}
*{{cite journal  | vauthors=Poot RA, Bozhenok L, van den Berg DL |title=The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci |journal=Nat. Cell Biol. |volume=6 |issue= 12 |pages= 1236–44 |year= 2005 |pmid= 15543136 |doi= 10.1038/ncb1196 |display-authors=etal}}
*{{cite journal  | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
*{{cite journal  | vauthors=Andersen JS, Lam YW, Leung AK |title=Nucleolar proteome dynamics |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Fujiki R, Kim MS, Sasaki Y |title=Ligand-induced transrepression by VDR through association of WSTF with acetylated histones |journal=EMBO J. |volume=24 |issue= 22 |pages= 3881–94 |year= 2005 |pmid= 16252006 |doi= 10.1038/sj.emboj.7600853 | pmc=1283952 |display-authors=etal}}
*{{cite journal  | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
*{{cite journal  | vauthors=Percipalle P, Fomproix N, Cavellán E |title=The chromatin remodelling complex WSTF–SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription |journal=EMBO Rep. |volume=7 |issue= 5 |pages= 525–30 |year=  2006|pmid= 16514417 |doi= 10.1038/sj.embor.7400657 | pmc=1479564 |display-authors=etal}}
*{{cite journal  | author=Poot RA, Bozhenok L, van den Berg DL, ''et al.'' |title=The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. |journal=Nat. Cell Biol. |volume=6 |issue= 12 |pages= 1236-44 |year= 2005 |pmid= 15543136 |doi= 10.1038/ncb1196 }}
*{{cite journal  | vauthors=Nousiainen M, Silljé HH, Sauer G |title=Phosphoproteome analysis of the human mitotic spindle |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 14 |pages= 5391–6 |year= 2006 |pmid= 16565220 |doi= 10.1073/pnas.0507066103 | pmc=1459365 |display-authors=etal}}
*{{cite journal  | author=Andersen JS, Lam YW, Leung AK, ''et al.'' |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77-83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 }}
*{{cite journal  | vauthors=Cavellán E, Asp P, Percipalle P, Farrants AK |title=The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription |journal=J. Biol. Chem. |volume=281 |issue= 24 |pages= 16264–71 |year= 2006 |pmid= 16603771 |doi= 10.1074/jbc.M600233200 }}
*{{cite journal  | author=Fujiki R, Kim MS, Sasaki Y, ''et al.'' |title=Ligand-induced transrepression by VDR through association of WSTF with acetylated histones. |journal=EMBO J. |volume=24 |issue= 22 |pages= 3881-94 |year= 2005 |pmid= 16252006 |doi= 10.1038/sj.emboj.7600853 }}
*{{cite journal  | vauthors=Olsen JV, Blagoev B, Gnad F |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |display-authors=etal}}
*{{cite journal  | author=Percipalle P, Fomproix N, Cavellán E, ''et al.'' |title=The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription. |journal=EMBO Rep. |volume=7 |issue= 5 |pages= 525-30 |year=  |pmid= 16514417 |doi= 10.1038/sj.embor.7400657 }}
*{{cite journal  | author=Nousiainen M, Silljé HH, Sauer G, ''et al.'' |title=Phosphoproteome analysis of the human mitotic spindle. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 14 |pages= 5391-6 |year= 2006 |pmid= 16565220 |doi= 10.1073/pnas.0507066103 }}
*{{cite journal  | author=Cavellán E, Asp P, Percipalle P, Farrants AK |title=The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. |journal=J. Biol. Chem. |volume=281 |issue= 24 |pages= 16264-71 |year= 2006 |pmid= 16603771 |doi= 10.1074/jbc.M600233200 }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
}}
{{refend}}
{{refend}}


== External links ==
==External links==
* {{MeshName|BAZ1B+protein,+human}}
* {{MeshName|BAZ1B+protein,+human}}
* {{UCSC gene info|BAZ1B}}


{{protein-stub}}
{{NLM content}}
{{NLM content}}
{{PDB Gallery|geneid=9031}}
{{Transcription factors}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Revision as of 02:27, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Tyrosine-protein kinase 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]

Animal models

Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1btm2a(KOMP)Wtsi,[4] 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.[5][6][7]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][8][9][10]

Six significant phenotypes were reported:[10]

Interactions

BAZ1B has been shown to interact with:

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B".
  4. ↑ KOMP. "Baz1btm2a(KOMP)Wtsi". www.knockoutmouse.org. External link in |publisher= (help)
  5. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.
  6. ↑ 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.
  7. ↑ 7.0 7.1 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 3218837. PMID 21722353.
  8. ↑ 8.0 8.1 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 2974211. PMID 20799038.
  9. ↑ 9.0 9.1 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.
  10. ↑ 10.0 10.1 10.2 Wellcome Trust Sanger Institute. "MGP Phenotyping of Baz1btm2a(KOMP)Wtsi". Mouse Resources Portal. www.sanger.ac.uk. External link in |publisher= (help)
  11. ↑ Wellcome Trust Sanger Institute. "Viability at Weaning Data for Baz1b". Mouse Resources Portal. www.sanger.ac.uk. External link in |publisher= (help)
  12. ↑ Wellcome Trust Sanger Institute. "Weight Curves Data for Baz1b". Mouse Resources Portal. www.sanger.ac.uk. External link in |publisher= (help)
  13. ↑ Wellcome Trust Sanger Institute. "Indirect Calorimetry Data for Baz1b". Mouse Resources Portal. www.sanger.ac.uk. External link in |publisher= (help)
  14. ↑ Wellcome Trust Sanger Institute. "Body Composition (DEXA) Data for Baz1b". Mouse Resources Portal. www.sanger.ac.uk. External link in |publisher= (help)
  15. ↑ Wellcome Trust Sanger Institute. "X-ray Imaging Data for Baz1b". Mouse Resources Portal. www.sanger.ac.uk. External link in |publisher= (help)
  16. ↑ Wellcome Trust Sanger Institute. "Salmonella Challenge Data for Baz1b". Mouse Resources Portal. www.sanger.ac.uk. External link in |publisher= (help)
  17. ↑ 17.0 17.1 17.2 17.3 17.4 17.5 17.6 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

External links

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