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BAZ1B bromodomain adjacent to zinc finger domain 1B [ Homo sapiens (human) ]

Gene ID: 9031, updated on 6-Jan-2019

Summary

Official Symbol
BAZ1Bprovided by HGNC
Official Full Name
bromodomain adjacent to zinc finger domain 1Bprovided by HGNC
Primary source
HGNC:HGNC:961
See related
Ensembl:ENSG00000009954 MIM:605681
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WSTF; WBSCR9; WBSCR10
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 disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 15.7), ovary (RPKM 15.6) and 25 other tissues See more
Orthologs

Genomic context

See BAZ1B in Genome Data Viewer
Location:
7q11.23
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (73440398..73522285, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72854728..72936628, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1080, pseudogene Neighboring gene FKBP prolyl isomerase 6 Neighboring gene frizzled class receptor 9 Neighboring gene RNA, U6 small nuclear 1198, pseudogene Neighboring gene BCL7B, BAF complex component Neighboring gene transducin beta like 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat The WICH complex, composed of WSTF and SNF2H, are identified to interact with HIV-1 Tat in Jurkat cell PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • B-WICH complex positively regulates rRNA expression, organism-specific biosystem (from REACTOME)
    B-WICH complex positively regulates rRNA expression, organism-specific biosystemThe B-WICH complex is a large 3 Mdalton complex containing SMARCA5 (SNF2H), BAZ1B (WSTF), ERCC6 (CSB), MYO1C (Nuclear myosin 1c) (Cavellan et al. 2006, Percipalle et al. 2006, Vintermist et al. 2001,...
  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Epigenetic regulation of gene expression, organism-specific biosystem (from REACTOME)
    Epigenetic regulation of gene expression, organism-specific biosystemEpigenetic processes regulate gene expression by modulating the frequency, rate, or extent of gene expression in a mitotically or meiotically heritable way that does not entail a change in the DNA se...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Positive epigenetic regulation of rRNA expression, organism-specific biosystem (from REACTOME)
    Positive epigenetic regulation of rRNA expression, organism-specific biosystemTranscription of rRNA genes is controlled by epigenetic activation and repression (reviewed in Percipalle and Farrants 2006, McStay and Grummt 2008, Goodfellow and Zomerdijk 2012, Grummt and Langst 2...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
histone binding IEA
Inferred from Electronic Annotation
more info
 
histone kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
non-membrane spanning protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
chromatin assembly or disassembly IEA
Inferred from Electronic Annotation
more info
 
chromatin remodeling TAS
Traceable Author Statement
more info
PubMed 
histone phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression, epigenetic TAS
Traceable Author Statement
more info
 
regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
condensed chromosome IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
colocalizes_with nuclear replication fork IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
pericentric heterochromatin IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
tyrosine-protein kinase BAZ1B
Names
hWALp2
transcription factor WSTF
williams syndrome transcription factor
williams-Beuren syndrome chromosomal region 10 protein
williams-Beuren syndrome chromosomal region 9 protein
NP_115784.1
XP_016868262.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027679.1 RefSeqGene

    Range
    5001..86888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032408.4NP_115784.1  tyrosine-protein kinase BAZ1B

    See identical proteins and their annotated locations for NP_115784.1

    Status: REVIEWED

    Source sequence(s)
    AC005089, AF084479, BC136520, DA739467
    Consensus CDS
    CCDS5549.1
    UniProtKB/Swiss-Prot
    Q9UIG0
    Related
    ENSP00000342434.4, ENST00000339594.8
    Conserved Domains (8) summary
    cd05505
    Location:13441440
    Bromo_WSTF_like; Bromodomain; Williams syndrome transcription factor-like subfamily (WSTF-like). The Williams-Beuren syndrome deletion transcript 9 is a putative transcriptional regulator. WSTF was found to play a role in vitamin D-mediated transcription as part of two ...
    smart00571
    Location:604668
    DDT; domain in different transcription and chromosome remodeling factors
    TIGR02794
    Location:785895
    tolA_full; TolA protein
    cd15628
    Location:11861231
    PHD_BAZ1B; PHD finger found in bromodomain adjacent to zinc finger domain protein 1B (BAZ1B)
    pfam10537
    Location:21120
    WAC_Acf1_DNA_bd; ATP-utilizing chromatin assembly and remodelling N-terminal
    pfam15612
    Location:724773
    WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1
    pfam15613
    Location:899936
    WHIM2; WSTF, HB1, Itc1p, MBD9 motif 2
    pfam15614
    Location:9911028
    WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    73440398..73522285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012773.2XP_016868262.1  tyrosine-protein kinase BAZ1B isoform X1

    UniProtKB/Swiss-Prot
    Q9UIG0
    Related
    ENSP00000385442.1, ENST00000404251.1
    Conserved Domains (8) summary
    cd05505
    Location:13441440
    Bromo_WSTF_like; Bromodomain; Williams syndrome transcription factor-like subfamily (WSTF-like). The Williams-Beuren syndrome deletion transcript 9 is a putative transcriptional regulator. WSTF was found to play a role in vitamin D-mediated transcription as part of two ...
    smart00571
    Location:604668
    DDT; domain in different transcription and chromosome remodeling factors
    TIGR02794
    Location:785895
    tolA_full; TolA protein
    cd15628
    Location:11861231
    PHD_BAZ1B; PHD finger found in bromodomain adjacent to zinc finger domain protein 1B (BAZ1B)
    pfam10537
    Location:21120
    WAC_Acf1_DNA_bd; ATP-utilizing chromatin assembly and remodelling N-terminal
    pfam15612
    Location:724773
    WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1
    pfam15613
    Location:899936
    WHIM2; WSTF, HB1, Itc1p, MBD9 motif 2
    pfam15614
    Location:9911028
    WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

RNA

  1. XR_001744892.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_023005.2: Suppressed sequence

    Description
    NM_023005.2: This RefSeq was permanently suppressed because currently there is an insufficient support for the 3' UTR of this transcript, and it is a nonsense-mediated decay (NMD) candidate.
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