Homo sapiens Gene: DFFA
Summary
InnateDB Gene IDBG-89047.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DFFA
Gene Name DNA fragmentation factor, 45kDa, alpha polypeptide
Synonyms DFF-45; DFF1; ICAD
Species Homo sapiens
Ensembl Gene ENSG00000160049
Encoded Proteins
DNA fragmentation factor, 45kDa, alpha polypeptide
DNA fragmentation factor, 45kDa, alpha polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:10456522-10472526
Strand Reverse strand
Band p36.22
Transcripts
ENST00000377038 ENSP00000366237
ENST00000377036 ENSP00000366235
ENST00000476658 ENSP00000468395
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 47 [view]
Protein-Protein 46 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 1 [view]
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006309 apoptotic DNA fragmentation
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0007165 signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0070242 thymocyte apoptotic process
GO:1900118 negative regulation of execution phase of apoptosis
GO:1902511 negative regulation of apoptotic DNA fragmentation
Cellular Component
GO:0000790 nuclear chromatin
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Activation of DNA fragmentation factor pathway
Apoptotic execution phase pathway
Apoptosis induced DNA fragmentation pathway
Apoptosis pathway
KEGG
Apoptosis pathway
INOH
PID NCI
Caspase Cascade in Apoptosis
Cross-References
SwissProt O00273
TrEMBL A0A024R4H5 K7ERT1
UniProt Splice Variant
Entrez Gene 1676
UniGene Hs.484782 Hs.48617 Hs.603104
RefSeq NM_004401 NM_213566
HUGO HGNC:2772
OMIM 601882
CCDS CCDS118 CCDS119
HPRD
IMGT
EMBL AF087573 AF103799 AK313317 AL354956 BC000037 BC007112 BC007721 BT006980 CH471130 U91985
GenPept AAC51249 AAD32953 AAF02419 AAH00037 AAH07112 AAH07721 AAP35626 BAG36122 CAI19196 CAI19197 EAW71656 EAW71657 EAW71658
RNA Seq Atlas 1676