2. Gene
  3. BAZ1A - bromodomain adjacent to zinc finger domain 1A Gene

BAZ1A - bromodomain adjacent to zinc finger domain 1A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：与锌指结构域 1A 相邻的溴结构域

种属: Homo sapiens

同用名: ACF1; WALp1; hACF1; WCRF180

基因 ID: 11177 | 基因类型: protein coding

关于 BAZ1A

Cytogenetic location: 14q13.1-q13.2 Genomic coordinates (GRCh38): 14:34,752,731-34,875,360 (from NCBI)

This gene has 12 transcripts (splice variants), 191 orthologues, 11 paralogues and is associated with 70 phenotypes. Broad expression in testis (RPKM 18.1), bone marrow (RPKM 15.8) and 24 other tissues.

功能概要

BAZ1A 基因编码 ATP 依赖性染色质组装因子 (ACF) 的辅助亚基，ACF 是染色质重塑复合物 ISWI (“模拟开关”) 家族的成员 (由 Racki 等人总结，2009 [PubMed 20033039]) 。[OMIM 提供，2010 年 4 月]

The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]

BAZ1A 基因产物(2)

mRNA Protein Name
NM_013448.3 NP_038476.2 bromodomain adjacent to zinc finger domain protein 1A isoform a
NM_182648.2 NP_872589.1 bromodomain adjacent to zinc finger domain protein 1A isoform b
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 protein binding IPI
IPI: 通过物理相互作用推断
10655480 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA-templated DNA replication IDA
IDA: 通过直接分析推断
12434153 GOA
involved in chromatin remodeling IDA
IDA: 通过直接分析推断
10880450 GOA
involved in nucleosome assembly IDA
IDA: 通过直接分析推断
14759371 GOA
involved in positive regulation of DNA replication IMP
IMP: 通过突变表型推断
12434153 GOA
involved in regulation of DNA replication IMP
IMP: 通过突变表型推断
12434153 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ACF complex IPI
IPI: 通过物理相互作用推断
10655480 GOA
part of CHRAC IDA
IDA: 通过直接分析推断
10880450 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10655480 GOA
located in pericentric heterochromatin EXP
EXP: 通过实验结果推断
12434153 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

BAZ1A 蛋白结构

WAC_Acf1_DNA_bd

WAC_Acf1_DNA_bd: ATP-utilising chromatin assembly and remodelling N-terminal (22 - 122)

DDT

DDT: DDT domain (423 - 486)

WHIM1

WHIM1: WSTF, HB1, Itc1p, MBD9 motif 1 (593 - 638)

PHD

PHD: PHD-finger (1150 - 1198)

Bromodomain

Bromodomain: Bromodomain (1439 - 1517)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1556 a.a.
蛋白主名 其他名称

bromodomain adjacent to zinc finger domain protein 1A

ATP-dependent chromatin remodeling protein

BAZ1A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BAZ1A Q9NRL2 HTT Homo sapiens P42858
Y2H
17500595
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Chromosome 14q11-Q22 Deletion Syndrome

14q11.2 Microdeletion Syndrome

Zahir-Friedman Syndrome

Del(14)(Q11.2)

Monosomy 14q11.2
Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia

SIOD

Immunoosseous Dysplasia, Schimke Type

Schimke Syndrome

Immunoosseous Dysplasia Schimke Type

Spondyloepiphyseal Dysplasia - Nephrotic Syndrome

Spondyloepiphyseal Dysplasia Nephrotic Syndrome

Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Choanal Atresia, Posterior

Choanal Atresia

Atresia Of Nares

Posterior Choanal Atresia

PCA

Imperforate Nares

Choanal Fusion

Congenital Stenosis Of Nares

Congenital Stenosis Of Choanae

Nasal Atresia Nos
Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
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
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-141890 BAZ1A-IN-1 Inhibitor 99.91% 否
HY-RS01377 BAZ1A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus BAZ1A MGD MGI:1309478
Rattus norvegicus BAZ1A RGD RGD:1306199
Bos taurus BAZ1A VGNC VGNC:53933
Canis familiaris BAZ1A VGNC VGNC:38389
Felis catus BAZ1A VGNC VGNC:81029
Macaca mulatta BAZ1A VGNC VGNC:107997
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