Gene Gene information from NCBI Gene database.
Entrez ID 9031
Gene name Bromodomain adjacent to zinc finger domain 1B
Gene symbol BAZ1B
Synonyms (NCBI Gene)
WBSCR10WBSCR9WSTF
Chromosome 7
Chromosome location 7q11.23
Summary 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
miRNA miRNA information provided by mirtarbase database.
468
miRTarBase ID miRNA Experiments Reference
MIRT028399 hsa-miR-30a-5p Proteomics 18668040
MIRT030674 hsa-miR-21-5p Microarray 18591254
MIRT032225 hsa-let-7b-5p Proteomics 18668040
MIRT052553 hsa-let-7a-5p CLASH 23622248
MIRT032225 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000785 Component Chromatin IEA
GO:0000793 Component Condensed chromosome IEA
GO:0004713 Function Protein tyrosine kinase activity IEA
GO:0004715 Function Non-membrane spanning protein tyrosine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605681 961 ENSG00000009954
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIG0
Protein 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) (
Protein function Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator (PubMed:19092802). Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph) (PubMed:1909280
PDB 1F62 , 5NNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10537 WAC_Acf1_DNA_bd 21 120 ATP-utilising chromatin assembly and remodelling N-terminal Domain
PF15612 WHIM1 724 767 WSTF, HB1, Itc1p, MBD9 motif 1 Family
PF15613 WSD 898 1025 Williams-Beuren syndrome DDT (WSD), D-TOX E motif Family
PF00628 PHD 1186 1234 PHD-finger Domain
PF00439 Bromodomain 1348 1431 Bromodomain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary.
Sequence
MAPLLGRKPFPLVKPLPGEEPLFTIPHTQEAFRTREEYEARLERYSERIWTCKSTGSSQL
THKEAWEEEQEVAELLKEEFPAWYEKLVLEMVHHNTASLEKLVDTAWLEIMTKYAVGEEC

DFEVGKEKMLKVKIVKIHPLEKVDEEATEKKSDGACDSPSSDKENSSQIAQDHQKKETVV
KEDEGRRESINDRARRSPRKLPTSLKKGERKWAPPKFLPHKYDVKLQNEDKIISNVPADS
LIRTERPPNKEIVRYFIRHNALRAGTGENAPWVVEDELVKKYSLPSKFSDFLLDPYKYMT
LNPSTKRKNTGSPDRKPSKKSKTDNSSLSSPLNPKLWCHVHLKKSLSGSPLKVKNSKNSK
SPEEHLEEMMKMMSPNKLHTNFHIPKKGPPAKKPGKHSDKPLKAKGRSKGILNGQKSTGN
SKSPKKGLKTPKTKMKQMTLLDMAKGTQKMTRAPRNSGGTPRTSSKPHKHLPPAALHLIA
YYKENKDREDKRSALSCVISKTARLLSSEDRARLPEELRSLVQKRYELLEHKKRWASMSE
EQRKEYLKKKREELKKKLKEKAKERREKEMLERLEKQKRYEDQELTGKNLPAFRLVDTPE
GLPNTLFGDVAMVVEFLSCYSGLLLPDAQYPITAVSLMEALSADKGGFLYLNRVLVILLQ
TLLQDEIAEDYGELGMKLSEIPLTLHSVSELVRLCLRRSDVQEESEGSDTDDNKDSAAFE
DNEVQDEFLEKLETSEFFELTSEEKLQILTALCHRILMTYSVQDHMETRQQMSAELWKER
LAVLKEENDKKRAEKQKRKEMEAKNKENGKVENGLGKTDRKKEIVKFEPQVDTEAEDMIS
AVKSRRLLAIQAKKEREIQEREMKVKLERQAEEERIRKHKAAAEKAFQEGIAKAKLVMRR
TPIGTDRNHNRYWLFSDEVPGLFIEKGWVHDSIDYRFNHHCKDHTVSGDEDYCPRSKKAN
LGKNASMNTQHGTATEVAVETTTPKQGQNLWFLCDSQKELDELLNCLHPQGIRESQLKER
LEKRY
QDIIHSIHLARKPNLGLKSCDGNQELLNFLRSDLIEVATRLQKGGLGYVEETSEF
EARVISLEKLKDFGECVIALQASVIKKFLQGFMAPKQKRRKLQSEDSAKTEEVDEEKKMV
EEAKVASALEKWKTAIREAQTFSRMHVLLGMLDACIKWDMSAENARCKVCRKKGEDDKLI
LCDECNKAFHLFCLRPALYEVPDGEWQCPACQPA
TARRNSRGRNYTEESASEDSEDDESD
EEEEEEEEEEEEEDYEVAGLRLRPRKTIRGKHSVIPPAARSGRRPGKKPHSTRRSQPKAP
PVDDAEVDELVLQTKRSSRRQSLELQKCEEILHKIVKYRFSWPFREPVTRDEAEDYYDVI
THPMDFQTVQNKCSCGSYRSVQEFLTDMKQVFTNAEVYNCRGSHVLSCMVK
TEQCLVALL
HKHLPGHPYVRRKRKKFPDRLAEDEGDSEPEAVGQSRGRRQKK
Sequence length 1483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling   B-WICH complex positively regulates rRNA expression
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BAZ1B-related disorder Uncertain significance; Likely benign; Benign rs2484776437, rs781968138, rs2484807987, rs2484776431, rs199811050, rs73362338, rs138938790 RCV003416775
RCV003402361
RCV003919646
RCV003899170
RCV003969149
RCV003932914
RCV003933169
Williams syndrome Uncertain significance rs2116378500 RCV001787313
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 30008175
Breast Neoplasms Associate 35850772
Diabetes Mellitus Type 2 Associate 26252223
Dyslipidemias Associate 22840581
Fetal Alcohol Spectrum Disorders Associate 35379245
Genetic Diseases Inborn Associate 24168170
Glioblastoma Stimulate 34784707
Hypertriglyceridemia Associate 36077235
Klippel Feil Syndrome Associate 32278351
Neoplasms Associate 23085504