1. Gene
  2. DFFA - DNA fragmentation factor subunit alpha Gene

DFFA - DNA fragmentation factor subunit alpha Gene

中文名称:DNA 片段化因子亚基 α

种属: Homo sapiens

同用名: DFF1; ICAD; DFF-45

基因 ID: 1676 | 基因类型: protein coding

关于 DFFA

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,456,522-10,472,529 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 6.3), kidney (RPKM 5.8) and 25 other tissues.

功能概要

细胞凋亡是一种细胞死亡过程,可在哺乳动物发育过程中去除有毒和/或无用的细胞。细胞凋亡过程伴随着细胞和细胞核的收缩和破碎以及染色体 DNA 降解为核小体单位。 DNA 片段化因子 (DFF) 是 40-kD (DFFB) 和 45-kD (DFFA) 亚基的异二聚体蛋白。 DFFA 是 Caspase-3 的底物,在细胞凋亡过程中触发 DNA 片段化。当 DFFA 被 Caspase-3 切割时,DFF 被激活。 DFFA 的切割片段从 DFFB (DFF 的活性成分) 解离。已发现 DFFB 在细胞凋亡过程中触发 DNA 片段化和染色质浓缩。已经为该基因发现了编码不同亚型的两个可变剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for Caspase-3 and triggers DNA fragmentation during Apoptosis. DFF becomes activated when DFFA is cleaved by Caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during Apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DFFA 基因产物(2)

mRNA Protein Name
NM_004401.3 NP_004392.1 DNA fragmentation factor subunit alpha isoform 1
NM_213566.2 NP_998731.1 DNA fragmentation factor subunit alpha isoform 2
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 deoxyribonuclease inhibitor activity IMP
IMP: 通过突变表型推断
19944011 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11371636 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
11371636 GOA
enables protein folding chaperone IPI
IPI: 通过物理相互作用推断
19944011 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chaperone-mediated protein folding IMP
IMP: 通过突变表型推断
19944011 GOA
acts upstream of or within negative regulation of apoptotic DNA fragmentation IDA
IDA: 通过直接分析推断
15572351 GOA
involved in negative regulation of apoptotic DNA fragmentation IDA
IDA: 通过直接分析推断
11371636 GOA
involved in negative regulation of deoxyribonuclease activity IMP
IMP: 通过突变表型推断
19944011 GOA
involved in negative regulation of execution phase of apoptosis IDA
IDA: 通过直接分析推断
9564035 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
19882353 GOA
located in cytosol IDA
IDA: 通过直接分析推断
9108473 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15572351 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
11371636 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

DFFA 蛋白结构

CIDE-N

CIDE-N: CIDE-N domain (18 - 95)

DFF-C

DFF-C: DNA Fragmentation factor 45kDa, C terminal domain (100 - 265)

  • 0
  • 100
  • 200
  • 300
  • 331 a.a.
蛋白主名 其他名称

DNA fragmentation factor subunit alpha

DFF45

DFFA 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
DFFA O00273 DFFB Homo sapiens O76075 17353931
种属内
DFFA O00273 DFFB Homo sapiens O76075
NMR
11371636
种属内
DFFA O00273 DFFB Homo sapiens O76075 19882353
种属内
DFFA O00273 DFFB Homo sapiens O76075 33961781
种属内
DFFA O00273 DFFB Homo sapiens O76075 32296183
种属内
DFFA O00273 TSPYL4 Homo sapiens Q9UJ04 33961781
种属内
DFFA O00273 HSPB1 Homo sapiens P04792 25277244
种属间
DFFA O00273 Dffb Mus musculus O54788 22727028
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 DFFA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7814 DFF45/ICAD Protein, Human (His) AAH07721.1 (M1-T331) ≥95%
HY-P700499 DFFA Protein, Human (GST) O00273 (M1-T331) ≥95%

DFFA 抗体

目录号 产品名 应用 反应物种
HY-P82517 ICAD Antibody (YA2262) WB, IHC-P, ICC/IF, IP, FC Human

关联疾病

疾病名称 别名
Basilar Artery Occlusion
Vertebral Artery Occlusion

Occlusion And Stenosis Of Vertebral Artery

Vertebrobasilar Insufficiency

Vertebro-Basilar Insufficiency

Vertebrobasilar Arterial Insufficiency

Vertebrobasilar Artery Syndrome

Horner'S Syndrome

Horner Syndrome

Bernard-Horner Syndrome

Oculosympathetic Palsy

Bernard Horner Syndrome

Cervical Sympathetic Paralysis

Von Passow Syndrome

Cervical Sympathetic Dystrophy

Vertebral Artery Insufficiency

Vertebral Artery Syndrome

Chronic Dacryocystitis
Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

Occlusion Precerebral Artery

Occlusion And Stenosis Of Multiple And Bilateral Precerebral Arteries

Occlusion And Stenosis Of Precerebral Artery

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
Mus musculus DFFA MGD MGI:1196227
Rattus norvegicus DFFA RGD RGD:620334
Macaca mulatta DFFA VGNC VGNC:71771
Others DFFA NCBI