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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 20 - - isoform 1 - 1425 - Lu variant 2 - - - isoform 2 - 1527 - Jones NM_032408 20 - 6096 NP_115784 170.8 1483 - Peoples, Cavellan (2006)

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly   stomach       highly Lymphoid/Immune lymph node       highly   tonsils       highly Reproductive female system ovary     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)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     included in the Williams-Beuren commonly deleted region

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS