• Gene id: 9031

Gene Summary

• Gene Symbol: BAZ1B   Gene   UCSC   Ensembl
• Aliases: WBSCR10, WBSCR9, WSTF
• Gene name: bromodomain adjacent to zinc finger domain 1B
• Alternate names: tyrosine-protein kinase BAZ1B, hWALp2, transcription factor WSTF, williams syndrome transcription factor, williams-Beuren syndrome chromosomal region 10 protein, williams-Beuren syndrome chromosomal region 9 protein,
• Gene location: 7q11.23 (158289886: 158294773)     Exons: 6     NC_000001.11
• Gene summary(Entrez): 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 d
• OMIM: 605681

Protein Summary

• Protein general information: Q9UIG0  
  • Name: Tyrosine protein kinase BAZ1B (EC 2.7.10.2) (Bromodomain adjacent to zinc finger domain protein 1B) (Williams syndrome transcription factor) (Williams Beuren syndrome chromosomal region 10 protein) (Williams Beuren syndrome chromosomal region 9 protein) (
  • Length: 1483  
  • Mass: 170903
  • Tissue specificity: Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary.
• Sequence:

  MAPLLGRKPFPLVKPLPGEEPLFTIPHTQEAFRTREEYEARLERYSERIWTCKSTGSSQLTHKEAWEEEQEVAEL
  LKEEFPAWYEKLVLEMVHHNTASLEKLVDTAWLEIMTKYAVGEECDFEVGKEKMLKVKIVKIHPLEKVDEEATEK
  KSDGACDSPSSDKENSSQIAQDHQKKETVVKEDEGRRESINDRARRSPRKLPTSLKKGERKWAPPKFLPHKYDVK
  LQNEDKIISNVPADSLIRTERPPNKEIVRYFIRHNALRAGTGENAPWVVEDELVKKYSLPSKFSDFLLDPYKYMT
  LNPSTKRKNTGSPDRKPSKKSKTDNSSLSSPLNPKLWCHVHLKKSLSGSPLKVKNSKNSKSPEEHLEEMMKMMSP
  NKLHTNFHIPKKGPPAKKPGKHSDKPLKAKGRSKGILNGQKSTGNSKSPKKGLKTPKTKMKQMTLLDMAKGTQKM
  TRAPRNSGGTPRTSSKPHKHLPPAALHLIAYYKENKDREDKRSALSCVISKTARLLSSEDRARLPEELRSLVQKR
  YELLEHKKRWASMSEEQRKEYLKKKREELKKKLKEKAKERREKEMLERLEKQKRYEDQELTGKNLPAFRLVDTPE
  GLPNTLFGDVAMVVEFLSCYSGLLLPDAQYPITAVSLMEALSADKGGFLYLNRVLVILLQTLLQDEIAEDYGELG
  MKLSEIPLTLHSVSELVRLCLRRSDVQEESEGSDTDDNKDSAAFEDNEVQDEFLEKLETSEFFELTSEEKLQILT
  ALCHRILMTYSVQDHMETRQQMSAELWKERLAVLKEENDKKRAEKQKRKEMEAKNKENGKVENGLGKTDRKKEIV
  KFEPQVDTEAEDMISAVKSRRLLAIQAKKEREIQEREMKVKLERQAEEERIRKHKAAAEKAFQEGIAKAKLVMRR
  TPIGTDRNHNRYWLFSDEVPGLFIEKGWVHDSIDYRFNHHCKDHTVSGDEDYCPRSKKANLGKNASMNTQHGTAT
  EVAVETTTPKQGQNLWFLCDSQKELDELLNCLHPQGIRESQLKERLEKRYQDIIHSIHLARKPNLGLKSCDGNQE
  LLNFLRSDLIEVATRLQKGGLGYVEETSEFEARVISLEKLKDFGECVIALQASVIKKFLQGFMAPKQKRRKLQSE
  DSAKTEEVDEEKKMVEEAKVASALEKWKTAIREAQTFSRMHVLLGMLDACIKWDMSAENARCKVCRKKGEDDKLI
  LCDECNKAFHLFCLRPALYEVPDGEWQCPACQPATARRNSRGRNYTEESASEDSEDDESDEEEEEEEEEEEEEDY
  EVAGLRLRPRKTIRGKHSVIPPAARSGRRPGKKPHSTRRSQPKAPPVDDAEVDELVLQTKRSSRRQSLELQKCEE
  ILHKIVKYRFSWPFREPVTRDEAEDYYDVITHPMDFQTVQNKCSCGSYRSVQEFLTDMKQVFTNAEVYNCRGSHV
  LSCMVKTEQCLVALLHKHLPGHPYVRRKRKKFPDRLAEDEGDSEPEAVGQSRGRRQKK

• Structural information:
  • Protein Domains: (20..12-)
    (/note="WAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00475-)
    (604..66-)
    (/note="DDT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00063-)
    (1356..142-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR037375  IPR001487  IPR036427  IPR018359  IPR018501   IPR028942  IPR028941  IPR013136  IPR019786  IPR011011  IPR001965  IPR019787  IPR001841  IPR013083  
  • Prosite: PS00633 PS50014 PS50827 PS51136 PS01359 PS50016
  • CDD: cd05505
  • PDB: 1F62 5NNF
  • PDBsum: 1F62 5NNF
  • DIP: 35642
  • STRING: ENSP00000342434
• Other Databases: GeneCards:  BAZ1B  Malacards:  BAZ1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035173	histone kinase activity	IDA	molecular function
GO:0016572	histone phosphorylation	IDA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0006338	chromatin remodeling	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045815	positive regulation of gene expression, epigenetic	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000793	condensed chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006338	chromatin remodeling	IEA	biological process
GO:0005721	pericentric heterochromatin	IEA	cellular component
GO:0006333	chromatin assembly or disassembly	IEA	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043596	nuclear replication fork	IDA	colocalizes with
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0006338	chromatin remodeling	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0008270	zinc ion binding	NAS	molecular function

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq