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

    Gene ID: 9031, updated on 11-Jul-2021

    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
    NEW
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    Genomic context

    See BAZ1B in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73440406..73522293, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72854736..72936623, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1080, pseudogene Neighboring gene FKBP prolyl isomerase family member 6 (inactive) Neighboring gene frizzled class receptor 9 Neighboring gene RNA, U6 small nuclear 1198, pseudogene Neighboring gene BAF chromatin remodeling complex subunit BCL7B 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    GeneReviews: Not available
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
    GeneReviews: Not available
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
    GeneReviews: Not available
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    GeneReviews: Not available

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables non-membrane spanning protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in condensed chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with nuclear replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in 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_001357331.1
    NP_115784.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4993..86880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370402.1NP_001357331.1  tyrosine-protein kinase BAZ1B

      Status: REVIEWED

      Source sequence(s)
      AC005074, AC005089
      Related
      ENSP00000385442.1, ENST00000404251.1
      Conserved Domains (7) 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
      cd15628
      Location:11861231
      PHD_BAZ1B; PHD finger found in bromodomain adjacent to zinc finger domain protein 1B (BAZ1B)
      pfam15613
      Location:8981025
      WSD; Williams-Beuren syndrome DDT (WSD), D-TOX E motif
      pfam10537
      Location:21120
      WAC_Acf1_DNA_bd; ATP-utilising chromatin assembly and remodelling N-terminal
      pfam15612
      Location:727767
      WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1
      pfam17380
      Location:664877
      DUF5401; Family of unknown function (DUF5401)
    2. 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, ENST00000339594.9
      Conserved Domains (7) 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
      cd15628
      Location:11861231
      PHD_BAZ1B; PHD finger found in bromodomain adjacent to zinc finger domain protein 1B (BAZ1B)
      pfam15613
      Location:8981025
      WSD; Williams-Beuren syndrome DDT (WSD), D-TOX E motif
      pfam10537
      Location:21120
      WAC_Acf1_DNA_bd; ATP-utilising chromatin assembly and remodelling N-terminal
      pfam15612
      Location:727767
      WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1
      pfam17380
      Location:664877
      DUF5401; Family of unknown function (DUF5401)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      73440406..73522293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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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