BAZ1B bromodomain adjacent to zinc finger domain, 1B [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: BAZ1Bprovided by HGNC
Official Full Name: bromodomain adjacent to zinc finger domain, 1Bprovided by HGNC
Primary source: HGNC:961
See related: Ensembl:ENSG00000009954; HPRD:10416; MIM:605681; Vega:OTTHUMG00000023847
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]

Help top of page

Genomic context

Location :: 7q11.23

Sequence :: Chromosome: 7; NC_000007.13 (72854728..72936615, complement)

See BAZ1B in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

This review describes the three known WSTF-containing complexes and discuss their various roles as well as mechanisms of regulating WSTF activity.
Title: WSTF does it all: a multifunctional protein in transcription, repair, and replication.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Phosphorylation of Williams syndrome transcription factor by MAPK induces a switching between two distinct chromatin remodeling complexes
Title: Phosphorylation of Williams syndrome transcription factor by MAPK induces a switching between two distinct chromatin remodeling complexes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Replication of recently described type 2 diabetes gene variants in a South Indian population.
A multiprotein complex containing WSTF, nuclear myosin 1 (NM1), and SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily A member 5 protein(SNF2h) is required for ribosomal DNA transcription.
Title: The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription.
WSTF phosphorylates Tyr 142 of H2A.X, and WSTF activity has an important role in regulating several events that are critical for the DNA damage response
Title: WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity.
WSTF-SNF2h-NM1 forms a platform in transcription while providing chromatin remodeling
Title: The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription.
Data show that WINAC associates with chromatin via an interaction between the WSTF bromodomain and acetylated histones, which is indispensable for vitamin D receptor/promoter association for ligand-induced transrepression of 1alpha(OH)ase gene expression.
Title: Ligand-induced transrepression by VDR through association of WSTF with acetylated histones.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Common variants at 30 loci contribute to polygenic dyslipidemia.

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
NP_115784.1	NP_872590.1	PCNA	BIND	PubMed	PCNA interacts with WSTF
Q9UIG0	O00159	MYO1C	HPRD	PubMed
Q9UIG0	P12004	PCNA	HPRD	PubMed
Q9UIG0	P28370	SMARCA1	HPRD	PubMed
Q9UIG0	O60264	SMARCA5	HPRD	PubMed
BioGRID:114497	BioGRID:122994	ATAD5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114497	BioGRID:116347	BAZ1A	BioGRID	PubMed	Co-fractionation
BioGRID:114497	BioGRID:123555	CDT1	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:114497	BioGRID:113643	DEK	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:114497	BioGRID:108386	ERCC6	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:114497	BioGRID:109316	HDAC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114497	BioGRID:109318	HDGF	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114497	BioGRID:113946	HIST1H3A	BioGRID	PubMed	Reconstituted Complex
BioGRID:114497	BioGRID:113955	HIST1H4A	BioGRID	PubMed	Reconstituted Complex
BioGRID:114497	BioGRID:113934	HIST2H2AC	BioGRID	PubMed	Reconstituted Complex
BioGRID:114497	BioGRID:113945	HIST2H2BE	BioGRID	PubMed	Reconstituted Complex
BioGRID:114497	BioGRID:107819	MAPK14	BioGRID	PubMed	Biochemical Activity
BioGRID:114497	BioGRID:111581	MAPK3	BioGRID	PubMed	Biochemical Activity
BioGRID:114497	BioGRID:111587	MAPK9	BioGRID	PubMed	Biochemical Activity
BioGRID:114497	BioGRID:115770	MYBBP1A	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:114497	BioGRID:110725	MYO1C	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114497	BioGRID:114973	NCOR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114497	BioGRID:111142	PCNA	BioGRID	PubMed	Reconstituted Complex
BioGRID:114497	BioGRID:111939	RHD	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:114497	BioGRID:117017	SF3B1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:114497	BioGRID:117439	SIN3A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114497	BioGRID:112481	SMARCA4	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:114497	BioGRID:114045	SMARCA5	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-fractionation
BioGRID:114497	BioGRID:113188	SUMO1	BioGRID	PubMed	Reconstituted Complex
BioGRID:114497	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114497	BioGRID:112791	TCF3	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:114497	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114497	BioGRID:113264	VDR	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:114497	BioGRID:1205541	tat	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
chromatin binding	IDA Inferred from Direct Assay more info	PubMed
histone acetyl-lysine binding	IDA Inferred from Direct Assay more info	PubMed
histone kinase activity	IDA Inferred from Direct Assay more info	PubMed
kinase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
non-membrane spanning protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein complex scaffold	IDA Inferred from Direct Assay more info	PubMed
protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
transferase activity	IEA Inferred from Electronic Annotation more info
vitamin D receptor activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
vitamin D receptor binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
ATP-dependent chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
DNA replication-dependent nucleosome disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
chromatin assembly or disassembly	IEA Inferred from Electronic Annotation more info
chromatin-mediated maintenance of transcription	ISS Inferred from Sequence or Structural Similarity more info
double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
histone phosphorylation	IDA Inferred from Direct Assay more info	PubMed
nucleosome disassembly	IDA Inferred from Direct Assay more info	PubMed
regulation of gene expression, epigenetic	IC Inferred by Curator more info	PubMed
regulation of transcription, DNA-dependent	ISS Inferred from Sequence or Structural Similarity more info
response to DNA damage stimulus	IDA Inferred from Direct Assay more info	PubMed
transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
WINAC complex	IDA Inferred from Direct Assay more info	PubMed
centromeric heterochromatin	IEA Inferred from Electronic Annotation more info
chromatin remodeling complex	IDA Inferred from Direct Assay more info	PubMed
condensed chromosome	IEA Inferred from Electronic Annotation more info
colocalizes_with nuclear replication fork	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: tyrosine-protein kinase BAZ1B

Names: tyrosine-protein kinase BAZ1B; hWALp2; transcription factor WSTF; williams syndrome transcription factor; williams-Beuren syndrome chromosomal region 9 protein; williams-Beuren syndrome chromosomal region 10 protein

NP_115784.1

EC 2.7.10.2

Help top of page

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

NG_027679.1 RefSeqGene

Range

5001..86888

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032408.3 → NP_115784.1 tyrosine-protein kinase BAZ1B

Status: REVIEWED

Source sequence(s)

AF084479, BC136520, BU632531, DA739467

Consensus CDS

CCDS5549.1

UniProtKB/Swiss-Prot

Q9UIG0

Related

ENSP00000342434, OTTHUMP00000160320, ENST00000339594, OTTHUMT00000252123

Conserved Domains (5) summary

cd05505
Location:1344 – 1440
Blast Score: 472

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 ...

pfam10537
Location:20 – 120
Blast Score: 269

WAC_Acf1_DNA_bd; ATP-utilising chromatin assembly and remodelling N-terminal

cl02674
Location:604 – 668
Blast Score: 143

DDT; DDT domain

cl15348
Location:1186 – 1234
Blast Score: 187

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

TIGR02794
Location:767 – 895
Blast Score: 106

tolA_full; TolA protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

72854728..72936615, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

68736057..68818392, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

72187800..72269687, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005074.1	AAD04720.1
genomic	AC005089.3	AAP22332.1
genomic	CH471200.2	EAW69679.1
		EAW69680.1
		EAW69681.1
mRNA	AB032253.1	BAA89210.1
mRNA	AF072810.1	AAC97879.1
mRNA	AF084479.1	AAD08675.1
mRNA	AK123274.1	None
mRNA	BC041561.1	None
mRNA	BC050599.1	None
mRNA	BC065029.1	AAH65029.1
mRNA	BC080544.1	None
mRNA	BC136520.1	AAI36521.1
mRNA	BU632531.1	None
mRNA	DA739467.1	None