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  2. DFFB - DNA fragmentation factor subunit beta Gene

DFFB - DNA fragmentation factor subunit beta Gene

Homo sapiens

Also known as CAD; CPAN; DFF2; DFF40; DFF-40

Gene ID: 1677 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA nuclease activity IMP
IMP: Inferred from mutant phenotype
19944011 GOA
enables disordered domain specific binding IPI
IPI: Inferred from physical interaction
11371636 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
10959840 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
11371636 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11371636 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
19944011 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA catabolic process IMP
IMP: Inferred from mutant phenotype
19944011 GOA
acts upstream of or within apoptotic DNA fragmentation IDA
IDA: Inferred from direct assay
15572351 GOA
involved in apoptotic DNA fragmentation IDA
IDA: Inferred from direct assay
22253444 GOA
involved in apoptotic chromosome condensation IDA
IDA: Inferred from direct assay
10959840 GOA
involved in negative regulation of apoptotic DNA fragmentation IDA
IDA: Inferred from direct assay
11371636 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromatin IDA
IDA: Inferred from direct assay
19882353 GOA
located in cytosol IDA
IDA: Inferred from direct assay
9108473 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10959840 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
11371636 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DFFB Protein Structure

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.
Protein Preferred Names Protein Names

DNA fragmentation factor subunit beta

DNA fragmentation factor 40 kDa subunit

DFFB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
DFFB O76075 DFFA Homo sapiens O00273
Anti Tag CoIP
33961781
Intra
DFFB O76075 DFFA Homo sapiens O00273
Y2H Prey Pooling
32296183
Intra
DFFB O76075 DFFA Homo sapiens O00273
Y2H Array
32296183
Intra
DFFB O76075 DFFA Homo sapiens O00273
CoIP
9108473
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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