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

Summary

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, Nov 2024]
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

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4Mit189 (e-PCR), detects polymorphism
- UniSTS:129970

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables deoxyribonuclease inhibitor activity	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein folding chaperone	IEA Inferred from Electronic Annotation 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
involved_in chaperone-mediated protein folding	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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytosol	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	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation 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)

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
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

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