2. Gene
  3. BCLAF1 - BCL2 associated transcription factor 1 Gene

BCLAF1 - BCL2 associated transcription factor 1 Gene

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

中文名称：BCL2 相关转录因子 1

种属: Homo sapiens

同用名: BTF; bK211L9.1

基因 ID: 9774 | 基因类型: protein coding

关于 BCLAF1

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:136,256,627-136,289,846 (from NCBI)

This gene has 24 transcripts (splice variants), 144 orthologues, 2 paralogues and is associated with 87 phenotypes. Ubiquitous expression in bone marrow (RPKM 53.4), thyroid (RPKM 22.3) and 25 other tissues.

功能概要

该基因编码一个转录抑制因子，该抑制因子与 BCL2 蛋白家族的几个成员相互作用。该蛋白的过表达会诱导细胞凋亡，而细胞凋亡可通过共表达 BCL2 蛋白来抑制。该蛋白质定位于整个细胞核的点状结构，并在经历凋亡的细胞中重新分布到核膜附近的区域。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces Apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing Apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

BCLAF1 基因产物(17)

mRNA Protein Name
NM_001077440.3 NP_001070908.1 bcl-2-associated transcription factor 1 isoform 2
NM_001077441.3 NP_001070909.1 bcl-2-associated transcription factor 1 isoform 3
NM_001301038.3 NP_001287967.1 bcl-2-associated transcription factor 1 isoform 4
NM_001363659.3 NP_001350588.1 bcl-2-associated transcription factor 1 isoform 5
NM_001386693.1 NP_001373622.1 bcl-2-associated transcription factor 1 isoform 6
NM_001386694.1 NP_001373623.1 bcl-2-associated transcription factor 1 isoform 7
NM_001386695.1 NP_001373624.1 bcl-2-associated transcription factor 1 isoform 8
NM_001386696.1 NP_001373625.1 bcl-2-associated transcription factor 1 isoform 9
NM_001386697.1 NP_001373626.1 bcl-2-associated transcription factor 1 isoform 10
NM_001386698.1 NP_001373627.1 bcl-2-associated transcription factor 1 isoform 11
NM_001386699.1 NP_001373628.1 bcl-2-associated transcription factor 1 isoform 12
NM_001386700.1 NP_001373629.1 bcl-2-associated transcription factor 1 isoform 1
NM_001386701.1 NP_001373630.1 bcl-2-associated transcription factor 1 isoform 1
NM_001386702.1 NP_001373631.1 bcl-2-associated transcription factor 1 isoform 3
NM_001386703.1 NP_001373632.1 bcl-2-associated transcription factor 1 isoform 9
NM_001386704.1 NP_001373633.1 bcl-2-associated transcription factor 1 isoform 10
NM_014739.3 NP_055554.1 bcl-2-associated transcription factor 1 isoform 1
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 DNA binding IDA
IDA: 通过直接分析推断
10330179 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10837489 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
17938203 GOA
acts upstream of or within negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
10330179 GOA
involved in positive regulation of DNA-templated transcription initiation IMP
IMP: 通过突变表型推断
17938203 GOA
acts upstream of or within positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
10330179 GOA
involved in positive regulation of intrinsic apoptotic signaling pathway IMP
IMP: 通过突变表型推断
17938203 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear speck IDA
IDA: 通过直接分析推断
24100041 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
24100041 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10330179 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

BCLAF1 蛋白结构

THRAP3_BCLAF1

THRAP3_BCLAF1: THRAP3/BCLAF1 family (108 - 790)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 920 a.a.
蛋白主名 其他名称

bcl-2-associated transcription factor 1

BCLAF1 and THRAP3 family member 1

BCLAF1 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
Intra BCLAF1 Q9NYF8 CORO2A Homo sapiens Q92828
Anti Tag CoIP
33961781
Intra BCLAF1 Q9NYF8 EMD Homo sapiens P50402
Y2H
15009215
Intra BCLAF1 Q9NYF8 BCL2 Homo sapiens P10415
Anti Bait CoIP
23541952
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
Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]
Uterine Adnexa Cancer
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01445 BCLAF1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus BCLAF1 VGNC VGNC:26451
Felis catus BCLAF1 VGNC VGNC:97365
Canis familiaris BCLAF1 VGNC VGNC:38415
Macaca mulatta BCLAF1 VGNC VGNC:81045
Mus musculus BCLAF1 MGD MGI:1917580
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