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DFFA DNA fragmentation factor subunit alpha [ Homo sapiens (human) ]

Gene ID: 1676, updated on 23-Dec-2018

Summary

Official Symbol
DFFAprovided by HGNC
Official Full Name
DNA fragmentation factor subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:2772
See related
Ensembl:ENSG00000160049 MIM:601882
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFF1; ICAD; DFF-45
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]
Expression
Ubiquitous expression in placenta (RPKM 6.3), kidney (RPKM 5.8) and 25 other tissues See more
Orthologs

Genomic context

See DFFA in Genome Data Viewer
Location:
1p36.22
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (10460531..10472556, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10520588..10532613, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CENPS-CORT readthrough Neighboring gene centromere protein S Neighboring gene cortistatin Neighboring gene peroxisomal biogenesis factor 14 Neighboring gene RNA, 7SL, cytoplasmic 614, pseudogene Neighboring gene castor zinc finger 1 Neighboring gene VISTA enhancer hs289

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 protease directly cleaves and activates procaspase 8 in T cells, which is associated with cleavage of BID, mitochondrial release of cytochrome c, activation of the downstream caspases 9 and 3, and cleavage of DFF and PARP PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Activation of DNA fragmentation factor, organism-specific biosystem (from REACTOME)
    Activation of DNA fragmentation factor, organism-specific biosystemDNA fragmentation in response to apoptotic signals is achieved, in part, through the activity of apoptotic nucleases, termed DNA fragmentation factor (DFF) or caspase-activated DNase (CAD) (reviewed ...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Apoptosis induced DNA fragmentation, organism-specific biosystem (from REACTOME)
    Apoptosis induced DNA fragmentation, organism-specific biosystemDNA fragmentation in response to apoptotic signals is achieved through the activity of two apoptotic nucleases, termed DNA fragmentation factor (DFF) or caspase-activated DNase (CAD) and endonuclease...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystem (from WikiPathways)
    Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
  • HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem (from Pathway Interaction Database)
    HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem
    HIV-1 Nef: Negative effector of Fas and TNF-alpha
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
deoxyribonuclease inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding involved in protein folding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic DNA fragmentation TAS
Traceable Author Statement
more info
 
chaperone-mediated protein folding IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic DNA fragmentation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of deoxyribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of execution phase of apoptosis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
DNA fragmentation factor subunit alpha
Names
DFF45
DNA fragmentation factor 45 kDa subunit
DNA fragmentation factor, 45kDa, alpha polypeptide
inhibitor of CAD

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029098.1 RefSeqGene

    Range
    5001..17026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004401.3NP_004392.1  DNA fragmentation factor subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_004392.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AL354956, AU121791, BC000037, BC007112, BC007721
    Consensus CDS
    CCDS118.1
    UniProtKB/Swiss-Prot
    O00273
    Related
    ENSP00000366237.3, ENST00000377038.7
    Conserved Domains (2) summary
    pfam09033
    Location:100264
    DFF-C; DNA Fragmentation factor 45kDa, C terminal domain
    cl02541
    Location:1896
    CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
  2. NM_213566.1NP_998731.1  DNA fragmentation factor subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_998731.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional segment in the 3' region, as compared to variant 1. It encodes isoform 2 which has a shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AF087573, AU121791, BC000037, BC007112, BC007721, BE207821, BU956486
    Consensus CDS
    CCDS119.1
    UniProtKB/Swiss-Prot
    O00273
    UniProtKB/TrEMBL
    A0A024R4H5
    Related
    ENSP00000366235.2, ENST00000377036.2
    Conserved Domains (2) summary
    pfam09033
    Location:100261
    DFF-C; DNA Fragmentation factor 45kDa, C terminal domain
    cl02541
    Location:1896
    CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    10460531..10472556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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