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Dffa DNA fragmentation factor, alpha subunit [ Mus musculus (house mouse) ]

Gene ID: 13347, updated on 8-Dec-2022

Summary

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Official Symbol
Dffaprovided by MGI
Official Full Name
DNA fragmentation factor, alpha subunitprovided by MGI
Primary source
MGI:MGI:1196227
See related
Ensembl:ENSMUSG00000028974 AllianceGenome:MGI:1196227
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ICAD; DFF35; Dff45; ICAD-L; ICAD-S; A330085O09Rik
Summary
Predicted to enable deoxyribonuclease inhibitor activity; protein domain specific binding activity; and protein folding chaperone. Acts upstream of or within negative regulation of apoptotic DNA fragmentation; positive regulation of apoptotic process; and thymocyte apoptotic process. Predicted to be located in several cellular components, including chromatin; cytosol; and nucleus. Predicted to be part of protein-containing complex. Is expressed in several structures, including brain; heart; hemolymphoid system gland; liver; and metanephros. Orthologous to human DFFA (DNA fragmentation factor subunit alpha). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 12.5), cerebellum adult (RPKM 12.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Dffa in Genome Data Viewer
Location:
4; 4 E2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (149188599..149205110)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (149104142..149120653)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene peroxisomal biogenesis factor 14 Neighboring gene predicted gene, 46722 Neighboring gene bolA-like 3 pseudogene Neighboring gene cortistatin Neighboring gene centromere protein S

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. DNA fragmentation factor 45 knockout mice exhibit longer memory retention in the novel object recognition task compared to wild-type mice. Slane McQuade JM, et al. Physiol Behav, 2002 Jun 1. PMID 12044605
  2. Dna fragmentation factor 45 mutant mice exhibit resistance to kainic acid-induced neuronal cell death. Zhang J, et al. Biochem Biophys Res Commun, 2001 Aug 3. PMID 11478773
  3. Lack of obvious 50 kilobase pair DNA fragments in DNA fragmentation factor 45-deficient thymocytes upon activation of apoptosis. Zhang J, et al. Biochem Biophys Res Commun, 2000 Jul 21. PMID 10903922
  4. DNA fragmentation factor 45 deficient mice exhibit enhanced spatial learning and memory compared to wild-type control mice. Slane JM, et al. Brain Res, 2000 Jun 9. PMID 10837799
  5. Resistance to DNA fragmentation and chromatin condensation in mice lacking the DNA fragmentation factor 45. Zhang J, et al. Proc Natl Acad Sci U S A, 1998 Oct 13. PMID 9770511, Free PMC Article

See all (35) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. apoptotic DNA fragmentation factor is required for the maintenance of genetic stability and may play a role in tumor suppression
    Title: A unique role of the DNA fragmentation factor in maintaining genomic stability.
  2. a lack of DFF45 facilitates hippocampus-dependent nonspatial memory, as well as hippocampus-dependent spatial memory
    Title: DNA fragmentation factor 45 knockout mice exhibit longer memory retention in the novel object recognition task compared to wild-type mice.
  3. Co-transfection of mouse DFF45(-/-) fibroblasts with plasmids encoding human DFF40 and DFF45 reversed the apoptosis resistance normally observed in these cells
    Title: Roles of DNA fragmentation factor and poly(ADP-ribose) polymerase-1 in sensitization of fibroblasts to tumor necrosis factor-induced apoptosis.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables deoxyribonuclease inhibitor activity ISO
Inferred from Sequence Orthology
more info
  
enables molecular adaptor activity ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
  
enables protein folding chaperone ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in apoptotic DNA fragmentation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in chaperone-mediated protein folding ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of apoptotic DNA fragmentation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of apoptotic DNA fragmentation ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in negative regulation of apoptotic DNA fragmentation ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of deoxyribonuclease activity ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of execution phase of apoptosis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within thymocyte apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in chromatin ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001025296.2 → NP_001020467.1  DNA fragmentation factor subunit alpha isoform a

    See identical proteins and their annotated locations for NP_001020467.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA512775, AI956986, AK051011, BY170336, BY208552
    Consensus CDS
    CCDS18951.1
    UniProtKB/Swiss-Prot
    O54786, Q8BQC7
    Related
    ENSMUSP00000030816.4, ENSMUST00000030816.4
    Conserved Domains (2) summary
    cd06536
    Location:17 → 96
    CIDE_N_ICAD; CIDE_N domain of ICAD. The CIDE_N (cell death-inducing DFF45-like effector, N-terminal) domain is found at the N-terminus of the CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD (DFF45). These proteins are ...
    pfam09033
    Location:100 → 263
    DFF-C; DNA Fragmentation factor 45kDa, C terminal domain

  2. NM_010044.3 → NP_034174.2  DNA fragmentation factor subunit alpha isoform b

    See identical proteins and their annotated locations for NP_034174.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a different 3' UTR and 3' coding region, compared to variant 1. It encodes isoform b, which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK079634, BY170336, BY208552
    Consensus CDS
    CCDS18952.1
    UniProtKB/TrEMBL
    Q8C535
    Related
    ENSMUSP00000099505.4, ENSMUST00000103216.10
    Conserved Domains (2) summary
    cd06536
    Location:17 → 96
    CIDE_N_ICAD; CIDE_N domain of ICAD. The CIDE_N (cell death-inducing DFF45-like effector, N-terminal) domain is found at the N-terminus of the CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD (DFF45). These proteins are ...
    pfam09033
    Location:100 → 261
    DFF-C; DNA Fragmentation factor 45kDa, C terminal domain

RNA

  1. NR_104263.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two internal exons and uses alternate splice sites in two other internal exons, compared to variant 1. This variant is represented as non-coding because the longest open reading frame is in a different frame compared to variant 1, and there is no support for the predicted protein encoded by this ORF.
    Source sequence(s)
    AI116789, AI956986, AK039227, AK051011, BU695917, BY170336

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    149188599..149205110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O54786.2 GenPept UniProtKB/Swiss-Prot:O54786

Gene LinkOut

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