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Aliases for DFFA Gene

Aliases for DFFA Gene

  • DNA Fragmentation Factor Subunit Alpha 2 3 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
  • 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 Carotid Artery Dissection. Among its related pathways are Apoptosis and survival Caspase cascade and Apoptosis induced DNA fragmentation.

UniProtKB/Swiss-Prot for DFFA Gene

  • Inhibitor of the caspase-activated DNase (DFF40).

Gene Wiki entry for DFFA Gene

Additional gene information for DFFA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DFFA Gene

Genomics for DFFA Gene

Regulatory Elements for DFFA Gene

Enhancers for DFFA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H010662 3.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.1 -203.9 -203943 28 PKNOX1 FOXA2 ZFP64 ARID4B FEZF1 DMAP1 ZNF2 FOS SP5 MXD4 TARDBP ENSG00000226849 EXOSC10 C1orf127 DFFA PGD RBP7 CASZ1 GC01P010673
GH01H010494 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 -24.4 -24391 4 ELF3 HDGF PKNOX1 RB1 SIN3A ARID4B BMI1 ZNF2 RAD21 RFX5 PEX14 DFFA CENPS-CORT CENPS CORT ENSG00000203469 ENSG00000271989 PGD GC01P010513
GH01H010413 1.5 Ensembl ENCODE dbSUPER 10.6 +57.1 57121 3 HDGF PKNOX1 ATF1 ARNT ZNF766 ELK1 ATF7 PAF1 ZNF592 MEF2D PGD CORT DFFA PEX14 CENPS CENPS-CORT
GH01H010533 1.5 VISTA 9.4 -61.1 -61054 1 POLR2A ZNF398 PRDM1 C1orf127 DFFA PEX14 ENSG00000271989 PIR58493 GC01P010513
GH01H010527 1.4 Ensembl ENCODE dbSUPER 9.7 -57.2 -57192 4 ZSCAN4 INSM2 KLF17 ZNF2 RAD21 ZEB1 ETS1 ZNF366 ZSCAN5C SCRT2 PGD C1orf127 DFFA PEX14 PIR58493 GC01P010513
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DFFA on UCSC Golden Path with GeneCards custom track

Promoters for DFFA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001278 156 1601 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for DFFA Gene

Chromosome:
1
Start:
10,456,522 bp from pter
End:
10,472,556 bp from pter
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 posLast=189189
  • Modification sites at PhosphoSitePlus

Other Protein References for DFFA Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DFFA (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

Suggested Antigen Peptide Sequences for DFFA Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for DFFA Gene

Molecular function for DFFA Gene

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
UniProtKB/Swiss-Prot Function:
Inhibitor of the caspase-activated DNase (DFF40).

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 9108473
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DFFA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 2
extracellular 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

SIGNOR curated interactions for DFFA Gene

Inactivates:
Is inactivated 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

Unigene Clusters for DFFA Gene

DNA fragmentation factor, 45kDa, alpha polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DFFA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 34
  • 98.79 (n)
rat
(Rattus norvegicus)
Mammalia Dffa 33
  • 82.32 (n)
cow
(Bos Taurus)
Mammalia DFFA 33 34
  • 82.11 (n)
-- 34
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DFFA 33 34
  • 81.34 (n)
mouse
(Mus musculus)
Mammalia Dffa 33 16 34
  • 80.85 (n)
oppossum
(Monodelphis domestica)
Mammalia DFFA 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DFFA 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DFFA 33 34
  • 64.49 (n)
lizard
(Anolis carolinensis)
Reptilia DFFA 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dffa 33
  • 56.37 (n)
zebrafish
(Danio rerio)
Actinopterygii dffa 33 34
  • 55.22 (n)
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)

Paralogs for DFFA Gene

Pseudogenes.org Pseudogenes for DFFA Gene

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

No data available for Paralogs for DFFA Gene

Variants for DFFA Gene

Sequence variations from dbSNP and Humsavar for DFFA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000162386 -- 10,460,107(+) GGGCA(A/T)GGTGG downstream-variant-500B
rs1000272447 -- 10,465,425(+) CACGC(A/C)TGGCT intron-variant
rs1000403393 -- 10,460,819(+) CAACA(C/T)GCTCG utr-variant-3-prime
rs1000407027 -- 10,472,178(+) CGCTA(C/G/T)GCCCA intron-variant
rs1000445357 -- 10,460,301(+) TGTCA(C/T)CCAGG downstream-variant-500B

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)

Relevant External Links for DFFA Gene

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

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

Disorders for DFFA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
carotid artery dissection
  • dissection of carotid artery
- elite association - COSMIC cancer census association via MalaCards
Search DFFA in MalaCards View complete list of genes associated with diseases

Relevant External Links for DFFA

Genetic Association Database (GAD)
DFFA
Human Genome Epidemiology (HuGE) Navigator
DFFA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DFFA
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 22 60
  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 22 60
  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 60
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  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 22 60

Products for DFFA Gene

Sources for DFFA Gene

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