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 substrat... See more...

Aliases for DFFA Gene

Aliases for DFFA Gene

  • DNA Fragmentation Factor Subunit Alpha 2 3 4 5
  • DNA Fragmentation Factor, 45kDa, Alpha Polypeptide 2 3
  • DNA Fragmentation Factor 45 KDa Subunit 3 4
  • Inhibitor Of CAD 3 4
  • DFF-45 3 4
  • DFF45 3 4
  • DFF1 3 4
  • ICAD 3 4
  • DNA Fragmentation Factor, 45 KD, Alpha Polypeptide 2
  • DNA Fragmentation Factor, 45 KD, Alpha Subunit 2

External Ids for DFFA Gene

Previous GeneCards Identifiers for DFFA Gene

  • GC01M010481
  • GC01M010364
  • GC01M010130
  • GC01M010230
  • GC01M010454
  • GC01M010516
  • GC01M009674

Summaries for DFFA Gene

Entrez Gene Summary for DFFA Gene

  • 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]

GeneCards Summary for DFFA Gene

DFFA (DNA Fragmentation Factor Subunit Alpha) is a Protein Coding gene. Diseases associated with DFFA include Moyamoya Disease 1 and Chronic Dacryocystitis. Among its related pathways are Apoptotic cleavage of cellular proteins and Apoptotic Pathways in Synovial Fibroblasts. An important paralog of this gene is CIDEC.

UniProtKB/Swiss-Prot Summary for DFFA Gene

Gene Wiki entry for DFFA Gene

Additional gene information for DFFA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DFFA Gene

Genomics for DFFA Gene

GeneHancer (GH) Regulatory Elements for DFFA Gene

Promoters and enhancers for DFFA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DFFA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DFFA gene promoter:
  • AML1a
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Pax-2
  • Pax-2a
  • Pax-5

Genomic Locations for DFFA Gene

Genomic Locations for DFFA Gene
chr1:10,456,522-10,472,556
(GRCh38/hg38)
Size:
16,035 bases
Orientation:
Minus strand
chr1:10,516,579-10,532,613
(GRCh37/hg19)
Size:
16,035 bases
Orientation:
Minus strand

Genomic View for DFFA Gene

Genes around DFFA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DFFA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DFFA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DFFA Gene

Proteins for DFFA Gene

  • Protein details for DFFA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00273-DFFA_HUMAN
    Recommended name:
    DNA fragmentation factor subunit alpha
    Protein Accession:
    O00273
    Secondary Accessions:
    • Q5T6G5
    • Q5T6G6
    • Q96I97
    • Q9Y6C6

    Protein attributes for DFFA Gene

    Size:
    331 amino acids
    Molecular mass:
    36522 Da
    Quaternary structure:
    • Heterodimer of DFFA and DFFB.

    Three dimensional structures from OCA and Proteopedia for DFFA Gene

    Alternative splice isoforms for DFFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DFFA Gene

Post-translational modifications for DFFA Gene

  • Caspase-3 cleaves DFF45 at 2 sites to generate an active factor.
  • Ubiquitination at Lys189
  • Modification sites at PhosphoSitePlus

Other Protein References for DFFA Gene

Antibody Products

  • Abcam antibodies for DFFA
  • Boster Bio Antibodies for DFFA

No data available for DME Specific Peptides for DFFA Gene

Domains & Families for DFFA Gene

Gene Families for DFFA Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DFFA Gene

Suggested Antigen Peptide Sequences for DFFA Gene

GenScript: Design optimal peptide antigens:
  • Inhibitor of CAD (DFFA_HUMAN)
  • cDNA, FLJ93833, Homo sapiens DNAation factor, 45kDa, alpha polypeptide(DFFA), mRNA (Q5T6G6_HUMAN)
genes like me logo Genes that share domains with DFFA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DFFA Gene

Function for DFFA Gene

Molecular function for DFFA Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of the caspase-activated DNase (DFF40).
GENATLAS Biochemistry:
DNA fragmentation factor,45kDa,alpha subunit heterodimerizing with a 40kDa subunit (DFFB) and inhibitor necessary for DFFB expression and stabilization in an inactive state in living cells,activated by caspase-3 during apoptosis

Phenotypes From GWAS Catalog for DFFA Gene

Gene Ontology (GO) - Molecular Function for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19882353
GO:0019904 protein domain specific binding IPI 11371636
GO:0044183 protein binding involved in protein folding IPI 19944011
GO:0060703 deoxyribonuclease inhibitor activity IMP 19944011
genes like me logo Genes that share ontologies with DFFA: view
genes like me logo Genes that share phenotypes with DFFA: view

Animal Models for DFFA Gene

MGI Knock Outs for DFFA:

Animal Model Products

CRISPR Products

miRNA for DFFA Gene

miRTarBase miRNAs that target DFFA

Clone Products

  • Addgene plasmids for DFFA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DFFA Gene

Localization for DFFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for DFFA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DFFA gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 19882353
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 15572351
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DFFA: view

Pathways & Interactions for DFFA Gene

genes like me logo Genes that share pathways with DFFA: view

Pathways by source for DFFA Gene

8 Qiagen pathways for DFFA Gene
  • Apoptosis through Death Receptors
  • Apoptotic Pathways Triggered By HIV1
  • Caspase Cascade
  • Cellular Apoptosis Pathway
  • CTL Mediated Apoptosis
1 Cell Signaling Technology pathway for DFFA Gene

SIGNOR curated interactions for DFFA Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006309 apoptotic DNA fragmentation TAS --
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IEA --
GO:0032076 negative regulation of deoxyribonuclease activity IMP 19944011
GO:0043065 positive regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with DFFA: view

Drugs & Compounds for DFFA Gene

(4) Drugs for DFFA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for DFFA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DFFA: view

Transcripts for DFFA Gene

mRNA/cDNA for DFFA Gene

CRISPR Products

Clone Products

  • Addgene plasmids for DFFA

Alternative Splicing Database (ASD) splice patterns (SP) for DFFA Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d
SP1: - - - - -
SP2: - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - - -
SP7: - - -
SP8: -
SP9: -

Relevant External Links for DFFA Gene

GeneLoc Exon Structure for
DFFA
ECgene alternative splicing isoforms for
DFFA

Expression for DFFA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DFFA Gene

Protein differential expression in normal tissues from HIPED for DFFA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DFFA Gene



Protein tissue co-expression partners for DFFA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DFFA Gene:

DFFA

SOURCE GeneReport for Unigene cluster for DFFA Gene:

Hs.484782

Evidence on tissue expression from TISSUES for DFFA Gene

  • Muscle(4.6)
  • Kidney(4.4)
  • Liver(4.4)
  • Eye(4.2)
  • Nervous system(2.9)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with DFFA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DFFA Gene

Orthologs for DFFA Gene

This gene was present in the common ancestor of chordates.

Orthologs for DFFA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DFFA 33 32
  • 98.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dffa 32
  • 82.32 (n)
cow
(Bos Taurus)
Mammalia DFFA 33 32
  • 82.11 (n)
OneToMany
-- 33
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DFFA 33 32
  • 81.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dffa 17 33 32
  • 80.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DFFA 33
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DFFA 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DFFA 33 32
  • 64.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DFFA 33
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dffa 32
  • 56.37 (n)
zebrafish
(Danio rerio)
Actinopterygii dffa 33 32
  • 55.22 (n)
OneToOne
Species where no ortholog for DFFA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DFFA Gene

ENSEMBL:
Gene Tree for DFFA (if available)
TreeFam:
Gene Tree for DFFA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DFFA: view image

Paralogs for DFFA Gene

Paralogs for DFFA Gene

Pseudogenes.org Pseudogenes for DFFA Gene

genes like me logo Genes that share paralogs with DFFA: view

Variants for DFFA Gene

Sequence variations from dbSNP and Humsavar for DFFA Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000155281 -- 10,457,357(-) GGTCGGTC/GGTCGGTCGGTC 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000162386 -- 10,460,107(-) T/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000272447 -- 10,465,425(-) C/A intron_variant
rs1000403393 -- 10,460,819(-) C/G/T 3_prime_UTR_variant
rs1000407027 -- 10,472,178(-) T/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DFFA Gene

Variant ID Type Subtype PubMed ID
esv2758920 CNV gain+loss 17122850
esv2764192 CNV gain 21179565
nsv1075141 CNV deletion 25765185

Variation tolerance for DFFA Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DFFA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DFFA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DFFA Gene

Disorders for DFFA Gene

MalaCards: The human disease database

(3) MalaCards diseases for DFFA Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search DFFA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DFFA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DFFA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DFFA Gene

Publications for DFFA Gene

  1. Solution structure of DFF40 and DFF45 N-terminal domain complex and mutual chaperone activity of DFF40 and DFF45. (PMID: 11371636) Zhou P … Wagner G (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 23 56
  2. Functional interaction of DFF35 and DFF45 with caspase-activated DNA fragmentation nuclease DFF40. (PMID: 10409614) Gu J … Schlossman SF (The Journal of biological chemistry 1999) 3 4 23 56
  3. DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis. (PMID: 9108473) Liu X … Wang X (Cell 1997) 2 3 4 56
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 43 56
  5. Fifty C-terminal amino acid residues are necessary for the chaperone activity of DFF45 but not for the inhibition of DFF40. (PMID: 19944011) Park HH (BMB reports 2009) 3 23 56

Products for DFFA Gene

Sources for DFFA Gene