Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9031
Gene name Gene Name - the full gene name approved by the HGNC.
Bromodomain adjacent to zinc finger domain 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BAZ1B
Synonyms (NCBI Gene) Gene synonyms aliases
WBSCR10, WBSCR9, WSTF
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605681 961 ENSG00000009954
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Autism Spectrum Disorder autism spectrum disorder N/A N/A GenCC
Hyperuricemia Hyperuricemia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease 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