DFFB
DNA fragmentation factor subunit beta
Also known as: CAD, CPAN, DFF-40, DFF40, DFFB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O76075
- Gene
- DFFB
- Ensembl
- ENSG00000169598
- Chromosome
- 1
- Canonical length
- 338 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI 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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]
Canonical amino-acid sequenceUniProt
338 residues, UniProt reviewed canonical sequence.
>O76075|DFFB
1 MLQKPKSVKL RALRSPRKFG VAGRSCQEVL RKGCLRFQLP ERGSRLCLYE DGTELTEDYF
61 PSVPDNAELV LLTLGQAWQG YVSDIRRFLS AFHEPQVGLI QAAQQLLCDE QAPQRQRLLA
121 DLLHNVSQNI AAETRAEDPP WFEGLESRFQ SKSGYLRYSC ESRIRSYLRE VSSYPSTVGA
181 EAQEEFLRVL GSMCQRLRSM QYNGSYFDRG AKGGSRLCTP EGWFSCQGPF DMDSCLSRHS
241 INPYSNRESR ILFSTWNLDH IIEKKRTIIP TLVEAIKEQD GREVDWEYFY GLLFTSENLK
301 LVHIVCHKKT THKLNCDPSR IYKPQTRLKR KQPVRKRQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DFFB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 4.3 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 4.3 nTPM
- pancreas: 2.6 nTPM
- spleen: 2.6 nTPM
- small intestine: 2.5 nTPM
- colon: 2.2 nTPM
- cerebellum: 2.1 nTPM
Single-cell type
- thymocytes: 103 nCPM
- cone photoreceptor cells: 83 nCPM
- megakaryocyte-erythroid progenitors: 80 nCPM
- extravillous trophoblasts: 43 nCPM
- megakaryocyte progenitors: 32 nCPM
- rod photoreceptor cells: 31 nCPM
Immune cell
- non-classical monocyte: 7.5 nTPM
- myeloid DC: 5.1 nTPM
- eosinophil: 5 nTPM
- T-reg: 4.7 nTPM
- intermediate monocyte: 3.8 nTPM
- classical monocyte: 3.7 nTPM
Brain region
- white matter: 3.8 nTPM
- medulla oblongata: 3.6 nTPM
- midbrain: 2.7 nTPM
- pons: 2.5 nTPM
- cerebral cortex: 2.3 nTPM
- basal ganglia: 2.2 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.08
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.41
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic chromosome condensation
- apoptotic DNA fragmentation
- DNA catabolic process
- negative regulation of apoptotic DNA fragmentation
Molecular functions
- DNA binding
- DNA endonuclease activity
- DNA nuclease activity
- enzyme binding
- hydrolase activity
- identical protein binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- CIDE-N domain
- His-Me finger superfamily
- CIDE-N domain
- DNA fragmentation factor 40, C-terminal
- DNA fragmentation factor 40
- DNA fragmentation factor 40 kDa
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DFFB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DFFB as an antibody target. Whether an autoantibody or antibody against DFFB could matter depends on whether native DFFB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DFFB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DFFB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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