1. Gene
  2. DFFB - DNA fragmentation factor subunit beta Gene

DFFB - DNA fragmentation factor subunit beta Gene

中文名称:DNA 片段化因子β亚基

种属: Homo sapiens

同用名: CAD; CPAN; DFF2; DFF40; DFF-40

基因 ID: 1677 | 基因类型: protein coding

关于 DFFB

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:3,857,476-3,885,429 (from NCBI)

This gene has 11 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in duodenum (RPKM 1.4), spleen (RPKM 1.3) 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。已发现该基因编码不同亚型的可变剪接转录物变体,但尚未确定其中一些变体的生物学有效性。[RefSeq 提供,2013 年 9 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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]

DFFB 基因产物(4)

mRNA Protein Name
NM_001282669.2 NP_001269598.1 DNA fragmentation factor subunit beta isoform 1
NM_001320132.2 NP_001307061.1 DNA fragmentation factor subunit beta isoform 4
NM_001320136.2 NP_001307065.1 DNA fragmentation factor subunit beta isoform 5
NM_004402.4 NP_004393.1 DNA fragmentation factor subunit beta 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 DNA nuclease activity IMP
IMP: 通过突变表型推断
19944011 GOA
enables disordered domain specific binding IPI
IPI: 通过物理相互作用推断
11371636 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
10959840 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
11371636 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
19944011 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA catabolic process IMP
IMP: 通过突变表型推断
19944011 GOA
acts upstream of or within apoptotic DNA fragmentation IDA
IDA: 通过直接分析推断
15572351 GOA
involved in apoptotic DNA fragmentation IDA
IDA: 通过直接分析推断
22253444 GOA
involved in apoptotic chromosome condensation IDA
IDA: 通过直接分析推断
10959840 GOA
involved in negative regulation of apoptotic DNA fragmentation IDA
IDA: 通过直接分析推断
11371636 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
10959840 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

DFFB 蛋白结构

CIDE-N

CIDE-N: CIDE-N domain (4 - 79)

DFF40

DFF40: DNA fragmentation factor 40 kDa (100 - 323)

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

DNA fragmentation factor subunit beta

DNA fragmentation factor 40 kDa subunit

DFFB 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
DFFB O76075 DFFA Homo sapiens O00273 33961781
种属内
DFFB O76075 DFFA Homo sapiens O00273 32296183
种属内
DFFB O76075 DFFA Homo sapiens O00273 32296183
种属内
DFFB O76075 DFFA Homo sapiens O00273 9108473
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
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

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 DFFB MGD MGI:1196287
Bos taurus DFFB VGNC VGNC:28018
Rattus norvegicus DFFB RGD RGD:620335
Macaca mulatta DFFB VGNC VGNC:99891
Felis catus DFFB VGNC VGNC:61454
Canis familiaris DFFB VGNC VGNC:39910