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

    Gene ID: 13347, updated on 12-May-2024

    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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    Location:
    4 E2; 4 78.87 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 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 STARR-positive B cell enhancer ABC_E9626 Neighboring gene predicted gene, 46722 Neighboring gene bolA-like 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_12102 Neighboring gene STARR-positive B cell enhancer ABC_E4730 Neighboring gene STARR-positive B cell enhancer ABC_E11279 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

    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)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    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 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 IBA
    Inferred from Biological aspect of Ancestor
    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 
    acts_upstream_of_or_within thymocyte apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of 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
      B2KFX0, O54786, O54787, 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, Q8CA98
      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: GCF_000001635.27-RS_2024_02

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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