BAZ1B - bromodomain adjacent to zinc finger domain 1B Gene

Also Known as WSTF; WBSCR9; WBSCR10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9031

About BAZ1B

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,440,406-73,522,293 (from NCBI)

This gene has 3 transcripts (splice variants), 211 orthologues, 11 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 15.7), ovary (RPKM 15.6) and 25 other tissues.

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]

BAZ1B Products (2)

mRNA	Protein	Name
NM_001370402.1	NP_001357331.1	tyrosine-protein kinase BAZ1B
NM_032408.4	NP_115784.1	tyrosine-protein kinase BAZ1B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables histone H2AXY142 kinase activity	IDA IDA: Inferred from direct assay	19092802	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11980720	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	19092802	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	15543136	GOA
involved in negative regulation of mitotic chromosome condensation	IDA IDA: Inferred from direct assay	15543136	GOA
involved in negative regulation of mitotic chromosome condensation	IMP IMP: Inferred from mutant phenotype	15543136	GOA
involved in positive regulation of transcription by RNA polymerase III	IDA IDA: Inferred from direct assay	16603771	GOA
involved in post-translational protein modification	IDA IDA: Inferred from direct assay	19092802	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of B-WICH complex	IDA IDA: Inferred from direct assay	16603771	GOA
part of WICH complex	IDA IDA: Inferred from direct assay	16514417	GOA
colocalizes with nuclear replication fork	IDA IDA: Inferred from direct assay	15543136	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25593309	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BAZ1B Protein Structure

WAC_Acf1_DNA_bd

WHIM1

WSD

PHD

Bromodomain

0
300
600
900
1200
1483 a.a.

Protein Preferred Names	Protein Names
tyrosine-protein kinase BAZ1B	hWALp2

BAZ1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BAZ1B	Q9UIG0	SMARCA1	Homo sapiens	P28370	Crosslink	30021884
Intra	BAZ1B	Q9UIG0	SMARCA5	Homo sapiens	O60264	GMS	16514417
Intra	BAZ1B	Q9UIG0	SMARCA5	Homo sapiens	O60264	Anti Bait CoIP	16514417
Intra	BAZ1B	Q9UIG0	SMARCA5	Homo sapiens	O60264	Crosslink	30021884
Intra	BAZ1B	Q9UIG0	H1-4	Homo sapiens	P10412	Crosslink	30021884
Intra	BAZ1B	Q9UIG0	H1-2	Homo sapiens	P16403	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

BAZ1B Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82479	WSTF Antibody (YA2224)	WB, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Klippel-Feil Syndrome	Cervical Vertebral Fusion Congenital Dystrophia Brevicollis Cervical Fusion Syndrome Klippel-Feil Deformity Autosomal Dominant Klippel-Feil Syndrome Congenital Synostosis Of Cervical Vertebrae Klippel-Feil And Turner Syndrome Klippel-Feil Deformity, Deafness And Facial Asymmetry Klippel Feil Syndrome Cervical Vertebral Fusion Syndrome Dystrophia Brevicollis Congenita Fusion Of Cervical Vertebrae Kfs Klippel-Feil Sequence Vertebral Cervical Fusion Syndrome Klippel-Feil Syndrome, Autosomal Dominant Klippel-Feil Malformation Isolated Klippel-Feil Syndrome
Williams-Beuren Region Duplication Syndrome	7q11.23 Duplication Syndrome 7q11.23 Microduplication Syndrome Chromosome 7q11.23 Duplication Syndrome Wbs Duplication Syndrome Somerville-Van Der Aa Syndrome Dup(7)(Q11.23) Trisomy 7q11.23 William-Beuren Region Duplication Syndrome Chromosome 7q11.23 Duplication
Supravalvular Aortic Stenosis	SVAS Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis, Eisenberg Type Aortic Supravalvular Stenosis Aortic Stenosis, Supravalvular Supra-Valvular Aortic Stenosis Stenosis, Aortic Supravalvular Stenosis, Supravalvular Aortic Supravalvular Stenosis, Aortic Aortic Stenosis Supravalvular
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Chromosomal Deletion Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01378	BAZ1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22404	Baz1b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28928	Baz1b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BAZ1B	VGNC	VGNC:69152
Mus musculus	BAZ1B	MGD	MGI:1353499
Bos taurus	BAZ1B	VGNC	VGNC:26429
Rattus norvegicus	BAZ1B	RGD	RGD:1597089
Canis familiaris	BAZ1B	VGNC	VGNC:38390
Macaca mulatta	BAZ1B	VGNC	VGNC:70231
Others	BAZ1B	NCBI