1. Gene
  2. BCL7A - BAF chromatin remodeling complex subunit BCL7A Gene

BCL7A - BAF chromatin remodeling complex subunit BCL7A Gene

中文名称:BAF 染色质重塑复合物亚基 BCL7A

种属: Homo sapiens

同用名: BCL7; SMARCJ1

基因 ID: 605 | 基因类型: protein coding

关于 BCL7A

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,021,884-122,062,044 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 222 orthologues, 2 paralogues and is associated with 56 phenotypes. Ubiquitous expression in brain (RPKM 10.8), lymph node (RPKM 10.6) and 25 other tissues.

功能概要

该基因与 Myc 和 IgH 直接参与伯基特淋巴瘤细胞系中的三向基因易位。由于基因易位,基因产物的 N 末端区域被破坏,这被认为与高级 B 细胞非霍奇金淋巴瘤亚型的发病机制有关。参与易位的 N 端片段包括与 BCL7B 和 BCL7C 的序列具有很强序列相似性的区域。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

BCL7A 基因产物(2)

mRNA Protein Name
NM_001024808.3 NP_001019979.1 B-cell CLL/lymphoma 7 protein family member A isoform b
NM_020993.5 NP_066273.1 B-cell CLL/lymphoma 7 protein family member A isoform a
基因本体论
  • 分子功能
  • 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
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SWI/SNF complex IDA
IDA: 通过直接分析推断
23644491 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

BCL7A 蛋白结构

BCL_N

BCL_N: BCL7, N-terminal conserver region (4 - 52)

  • 0
  • 100
  • 210 a.a.
蛋白主名 其他名称

B-cell CLL/lymphoma 7 protein family member A

B-cell CLL/lymphoma 7A

BCL7A 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
BCL7A Q4VC05 ALAS1 Homo sapiens P13196 25416956
种属内
BCL7A Q4VC05 ALAS1 Homo sapiens P13196 25416956
种属内
BCL7A Q4VC05 ALAS1 Homo sapiens P13196 25416956
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
B-Cell Non-Hodgkin Lymphoma

B-Cell Nhl

B-Cell Non-Hodgkins Lymphoma

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

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

直系同源

种属 基因名 来源 基因 ID
Felis catus BCL7A VGNC VGNC:107696
Canis familiaris BCL7A VGNC VGNC:38412
Bos taurus BCL7A VGNC VGNC:53891
Mus musculus BCL7A MGD MGI:1924295
Macaca mulatta BCL7A VGNC VGNC:70038
Rattus norvegicus BCL7A RGD RGD:1585128