2. Gene
  3. BAZ1B - bromodomain adjacent to zinc finger domain 1B Gene

BAZ1B - bromodomain adjacent to zinc finger domain 1B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as WSTF; WBSCR9; WBSCR10

Gene ID: 9031 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

WAC_Acf1_DNA_bd: ATP-utilising chromatin assembly and remodelling N-terminal (21 - 120)

WHIM1

WHIM1: WSTF, HB1, Itc1p, MBD9 motif 1 (729 - 770)

WSD

WSD: Williams-Beuren syndrome DDT (WSD), D-TOX E motif (899 - 935)

(991 - 1024)

PHD

PHD: PHD-finger (1186 - 1233)

Bromodomain

Bromodomain: Bromodomain (1348 - 1428)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01378 BAZ1B Human Pre-designed siRNA Set A Pre-designed Sets / 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