Human Gene DFFA (ENST00000377038.8_7) from GENCODE V47lift37
  Description: DNA fragmentation factor subunit alpha, transcript variant 1 (from RefSeq NM_004401.3)
Gencode Transcript: ENST00000377038.8_7
Gencode Gene: ENSG00000160049.12_9
Transcript (Including UTRs)
   Position: hg19 chr1:10,516,579-10,532,586 Size: 16,008 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr1:10,521,547-10,532,515 Size: 10,969 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:10,516,579-10,532,586)mRNA (may differ from genome)Protein (331 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DFFA_HUMAN
DESCRIPTION: RecName: Full=DNA fragmentation factor subunit alpha; AltName: Full=DNA fragmentation factor 45 kDa subunit; Short=DFF-45; AltName: Full=Inhibitor of CAD; Short=ICAD;
FUNCTION: Inhibitor of the caspase-activated DNase (DFF40).
SUBUNIT: Heterodimer of DFFA and DFFB.
INTERACTION: Self; NbExp=1; IntAct=EBI-727171, EBI-727171; Q16611:BAK1; NbExp=1; IntAct=EBI-727171, EBI-519866; O76075:DFFB; NbExp=1; IntAct=EBI-727171, EBI-1053821; P23508:MCC; NbExp=1; IntAct=EBI-727171, EBI-307531; Q96NT1:NAP1L5; NbExp=1; IntAct=EBI-727171, EBI-713627; Q9HC24:TMBIM4; NbExp=1; IntAct=EBI-727171, EBI-1045545; Q9Y4E8:USP15; NbExp=1; IntAct=EBI-727171, EBI-1043104; P63104:YWHAZ; NbExp=1; IntAct=EBI-727171, EBI-347088;
SUBCELLULAR LOCATION: Cytoplasm.
PTM: Caspase-3 cleaves DFF45 at 2 sites to generate an active factor.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 CIDE-N domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DFFA
Diseases sorted by gene-association score: carotid artery dissection (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.16 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 277.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.3071-0.385 Picture PostScript Text
3' UTR -2076.504968-0.418 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003508 - CAD
IPR015121 - DNA_fragmentation_C
IPR017299 - DNA_fragmentation_factor_asu

Pfam Domains:
PF02017 - CIDE-N domain
PF09033 - DNA Fragmentation factor 45kDa, C terminal domain

SCOP Domains:
81783 - C-terminal domain of DFF45/ICAD (DFF-C domain)
54277 - CAD & PB1 domains

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1IBX - NMR 1IYR - NMR MuPIT 1KOY - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O00273
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0044183 protein binding involved in protein folding
GO:0060703 deoxyribonuclease inhibitor activity

Biological Process:
GO:0006309 apoptotic DNA fragmentation
GO:0006915 apoptotic process
GO:0032076 negative regulation of deoxyribonuclease activity
GO:0043065 positive regulation of apoptotic process
GO:0061077 chaperone-mediated protein folding
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
GO:0005886 plasma membrane
GO:0005811 lipid particle


-  Descriptions from all associated GenBank mRNAs
  AK022602 - Homo sapiens cDNA FLJ12540 fis, clone NT2RM4000425.
JD561289 - Sequence 542313 from Patent EP1572962.
JD179314 - Sequence 160338 from Patent EP1572962.
JD481215 - Sequence 462239 from Patent EP1572962.
JD522253 - Sequence 503277 from Patent EP1572962.
JD556305 - Sequence 537329 from Patent EP1572962.
JD319237 - Sequence 300261 from Patent EP1572962.
JD522254 - Sequence 503278 from Patent EP1572962.
JD556306 - Sequence 537330 from Patent EP1572962.
JD348284 - Sequence 329308 from Patent EP1572962.
JD319236 - Sequence 300260 from Patent EP1572962.
JD340812 - Sequence 321836 from Patent EP1572962.
JD441380 - Sequence 422404 from Patent EP1572962.
JD492640 - Sequence 473664 from Patent EP1572962.
JD070392 - Sequence 51416 from Patent EP1572962.
JD070393 - Sequence 51417 from Patent EP1572962.
JD095121 - Sequence 76145 from Patent EP1572962.
JD268813 - Sequence 249837 from Patent EP1572962.
JD287877 - Sequence 268901 from Patent EP1572962.
JD395587 - Sequence 376611 from Patent EP1572962.
BC007721 - Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide, mRNA (cDNA clone MGC:12704 IMAGE:4299734), complete cds.
JD344715 - Sequence 325739 from Patent EP1572962.
JD447125 - Sequence 428149 from Patent EP1572962.
JD344714 - Sequence 325738 from Patent EP1572962.
JD212801 - Sequence 193825 from Patent EP1572962.
JD212800 - Sequence 193824 from Patent EP1572962.
JD542818 - Sequence 523842 from Patent EP1572962.
JD542817 - Sequence 523841 from Patent EP1572962.
JD542819 - Sequence 523843 from Patent EP1572962.
JD212799 - Sequence 193823 from Patent EP1572962.
JD542816 - Sequence 523840 from Patent EP1572962.
BC000037 - Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide, mRNA (cDNA clone MGC:1515 IMAGE:3505817), complete cds.
U91985 - Human DNA fragmentation factor-45 mRNA, complete cds.
AK222546 - Homo sapiens mRNA for DNA fragmentation factor, 45kDa, alpha polypeptide isoform 1 variant, clone: CAE00980.
BC007112 - Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide, mRNA (cDNA clone MGC:14770 IMAGE:4292811), complete cds.
JD448423 - Sequence 429447 from Patent EP1572962.
JD481439 - Sequence 462463 from Patent EP1572962.
JD246894 - Sequence 227918 from Patent EP1572962.
JD413371 - Sequence 394395 from Patent EP1572962.
JD198074 - Sequence 179098 from Patent EP1572962.
JD212691 - Sequence 193715 from Patent EP1572962.
JD176823 - Sequence 157847 from Patent EP1572962.
JD389574 - Sequence 370598 from Patent EP1572962.
JD147103 - Sequence 128127 from Patent EP1572962.
BT006980 - Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide mRNA, complete cds.
AK313317 - Homo sapiens cDNA, FLJ93833, Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide(DFFA), mRNA.
KJ896700 - Synthetic construct Homo sapiens clone ccsbBroadEn_06094 DFFA gene, encodes complete protein.
AB590590 - Synthetic construct DNA, clone: pFN21AE1815, Homo sapiens DFFA gene for DNA fragmentation factor, 45kDa, alpha polypeptide, without stop codon, in Flexi system.
AF087573 - Homo sapiens DNA fragmentation factor DFF35 (DFF35) mRNA, complete cds.
AF103799 - Homo sapiens clone H13 unknown mRNA.
JD024194 - Sequence 5218 from Patent EP1572962.
CU675773 - Synthetic construct Homo sapiens gateway clone IMAGE:100017033 5' read DFFA mRNA.
JD282625 - Sequence 263649 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_setPathway - Granzyme A mediated Apoptosis Pathway
h_mitochondriaPathway - Role of Mitochondria in Apoptotic Signaling
h_tnfr1Pathway - TNFR1 Signaling Pathway
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors
h_fasPathway - FAS signaling pathway ( CD95 )
h_caspasePathway - Caspase Cascade in Apoptosis
h_DNAfragmentPathway - Apoptotic DNA fragmentation and tissue homeostasis

Reactome (by CSHL, EBI, and GO)

Protein O00273 (Reactome details) participates in the following event(s):

R-HSA-211207 Cleaved fragments of DFF45 dissociate from DFF40
R-HSA-211224 Association of DFF40 with DFF45
R-HSA-211186 Cleavage of DFF45 (224) by caspase-3
R-HSA-211190 Caspase 3-mediated cleavage of DFF45 (117)
R-HSA-211191 Association of DFF with alpha:beta importin
R-HSA-211206 Translocation of DFF to the nucleus
R-HSA-211227 Activation of DNA fragmentation factor
R-HSA-140342 Apoptosis induced DNA fragmentation
R-HSA-75153 Apoptotic execution phase
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: DFF1, DFF45, DFFA_HUMAN, ENST00000377038.1, ENST00000377038.2, ENST00000377038.3, ENST00000377038.4, ENST00000377038.5, ENST00000377038.6, ENST00000377038.7, H13, NM_004401, O00273, Q5T6G5, Q5T6G6, Q96I97, Q9Y6C6, uc318nip.1, uc318nip.2
UCSC ID: ENST00000377038.8_7
RefSeq Accession: NM_004401.3
Protein: O00273 (aka DFFA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.