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FLASH GENE
Symbol BAZ1B contributors: mct/npt - updated : 24-10-2018
HGNC name bromodomain adjacent to zinc finger domain, 1B
HGNC id 961
Location 7q11.23      Physical location : 72.854.727 - 72.936.615
Synonym name
  • Williams-Beuren syndrome chromosome region 9
  • Williams-Beuren syndrome transcription factor WSTF
  • Williams-Beuren syndrome chromosome region 10
  • Synonym symbol(s) WBSCR9, WSTF, WBSCR10, hWALP2, WINAC
    EC.number 2.7.10.2
    DNA
    TYPE functioning gene
    STRUCTURE 81.87 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389514 7 hypothetical gene supported by BC042156; BC051888; NM_018264 LOC389515 7 similar to Shwachman-Bodian-Diamond syndrome protein (CGI-97) POM121 7q11.23 POM121 membrane glycoprotein (rat) WBSCR20C 7q11.23 POM121 membrane glycoprotein (rat) TRIM50C 7 tripartite motif-containing 50C LOC389516 7 hypothetical gene supported by BC002581; NM_012447 LOC389517 7 similar to Williams Beuren syndrome chromosome region 19 GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2 LOC389520 7 similar to Nuclear envelope pore membrane protein POM 121 (Pore membrane protein of 121 kDa) (P145) WBSCR20A 7q11.23 Williams Beuren syndrome chromosome region 20A TRIM50A 7q11.23 tripartite motif-containing 50A FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - - - 1425 - Lu
    - - - - 1527 - Jones
    20 - 6096 170.8 1483 - Peoples, Cavellan (2006)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     stomach   highly
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Reproductivefemale systemovary  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal WAC domain,followed by
  • a receptor interacting domain (LXXLL)
  • a BAZ1 and a BAZ2 domains
  • a WAKZ motif adjacent to a (C4HC3) PHD zinc finger motif
  • a stretch of 13 GLU and a C terminal bromodomain, conserved zinc-binding core with two variable loops
  • HOMOLOGY
    interspecies homolog to murine Baz1b
    Homologene
    FAMILY
  • bromodomain family
  • WAL family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in chromatin-dependent regulation of transcription
  • being shared and a functionally indispensable subunit of the WICH complex for DNA repair and the WINAC complex for transcriptional control (Yoshimura 2009)
  • phosphorylating Tyr142 of H2AFX and regulating its DNA damage response (Xiao, 2009)
  • involved in vitamin D-mediated transcription and replication as a component of two distinct ATP-dependent chromatin remodeling complexes, WINAC and WICH, respectively (Cavellan 2006)
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • of chromatin remodeling complexes CHRAC (chromatin accessibility complex), WCRF
  • complexing with SMARCA5 (BAZ1B/SMARCA5 complex has a role in the maintenance of chromatin structures during DNA replication), and BAZ1B-SMARCA5 assembly is involved in RNA polymerase III transcription (Cavellan 2006)
  • part of a multiprotein complex that contains WICH, a chromatin remodelling complex containing BAZ1B (Williams syndrome transcription factor), SMARCA5, MYO1C (Percipalle 2006)
  • subunit of WINAC, which is a subclass of the SWI/SNF-type ATP-dependent chromatin remodeling complexes (Yoshimura 2009)
  • component of WINAC, that is indispensable for gene regulation by VDR through its chromatin remodeling activity (Oya 2009)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with PCNA to target chromatin remodelling by SMARCA5 to replication foci
  • BAZ1A and BAZ1B each recruit SMARCA5 to sites of damaged chromatin and promote survival
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    included in the Williams-Beuren commonly deleted region
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS