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

BAZ1B - bromodomain adjacent to zinc finger domain 1B Gene

中文名称:与锌指结构域 1B 相邻的溴结构域

种属: Homo sapiens

同用名: WSTF; WBSCR9; WBSCR10

基因 ID: 9031 | 基因类型: protein coding

关于 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.

功能概要

该基因编码溴域蛋白家族的一个成员。溴结构域是参与染色质依赖性转录调节的蛋白质的结构基序特征。该基因在 Williams-Beuren 综合征中缺失,这是一种由 7q11.23 处多个基因缺失引起的发育障碍。[RefSeq 提供,2008 年 7 月]

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 基因产物(2)

mRNA Protein Name
NM_001370402.1 NP_001357331.1 tyrosine-protein kinase BAZ1B
NM_032408.4 NP_115784.1 tyrosine-protein kinase BAZ1B
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone H2AXY142 kinase activity IDA
IDA: 通过直接分析推断
19092802 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11980720 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
19092802 GOA
involved in chromatin remodeling IMP
IMP: 通过突变表型推断
15543136 GOA
involved in negative regulation of mitotic chromosome condensation IDA
IDA: 通过直接分析推断
15543136 GOA
involved in negative regulation of mitotic chromosome condensation IMP
IMP: 通过突变表型推断
15543136 GOA
involved in positive regulation of transcription by RNA polymerase III IDA
IDA: 通过直接分析推断
16603771 GOA
involved in post-translational protein modification IDA
IDA: 通过直接分析推断
19092802 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of B-WICH complex IDA
IDA: 通过直接分析推断
16603771 GOA
part of WICH complex IDA
IDA: 通过直接分析推断
16514417 GOA
colocalizes with nuclear replication fork IDA
IDA: 通过直接分析推断
15543136 GOA
located in nucleus IDA
IDA: 通过直接分析推断
25593309 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BAZ1B 蛋白结构

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.
蛋白主名 其他名称

tyrosine-protein kinase BAZ1B

hWALp2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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