DFFA - DNA fragmentation factor subunit alpha Gene

Homo sapiens

Also known as DFF1; ICAD; DFF-45

Gene ID: 1676 | Gene type: protein coding

About DFFA

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,456,522-10,472,529 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 6.3), kidney (RPKM 5.8) and 25 other tissues.

Summary

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. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DFFA Products(2)

mRNA	Protein	Name
NM_004401.3	NP_004392.1	DNA fragmentation factor subunit alpha isoform 1
NM_213566.2	NP_998731.1	DNA fragmentation factor subunit alpha isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables deoxyribonuclease inhibitor activity	IMP IMP: Inferred from mutant phenotype	19944011	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11371636	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	11371636	GOA
enables protein folding chaperone	IPI IPI: Inferred from physical interaction	19944011	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chaperone-mediated protein folding	IMP IMP: Inferred from mutant phenotype	19944011	GOA
acts upstream of or within negative regulation of apoptotic DNA fragmentation	IDA IDA: Inferred from direct assay	15572351	GOA
involved in negative regulation of apoptotic DNA fragmentation	IDA IDA: Inferred from direct assay	11371636	GOA
involved in negative regulation of deoxyribonuclease activity	IMP IMP: Inferred from mutant phenotype	19944011	GOA
involved in negative regulation of execution phase of apoptosis	IDA IDA: Inferred from direct assay	9564035	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	19882353	GOA
located in cytosol	IDA IDA: Inferred from direct assay	9108473	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15572351	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	11371636	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DFFA Protein Structure

CIDE-N

DFF-C

0
100
200
300
331 a.a.

Protein Preferred Names

Protein Names

DNA fragmentation factor subunit alpha

DFF45

DFFA Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DFFA	O00273	DFFB	Homo sapiens	O76075	Anti Bait CoIP	17353931
Intra	DFFA	O00273	DFFB	Homo sapiens	O76075	NMR	11371636
Intra	DFFA	O00273	DFFB	Homo sapiens	O76075	Anti Bait CoIP	19882353
Intra	DFFA	O00273	DFFB	Homo sapiens	O76075	Anti Tag CoIP	33961781
Intra	DFFA	O00273	DFFB	Homo sapiens	O76075	Validated Y2H	32296183
Intra	DFFA	O00273	TSPYL4	Homo sapiens	Q9UJ04	Anti Tag CoIP	33961781
Intra	DFFA	O00273	HSPB1	Homo sapiens	P04792	Anti Bait CoIP	25277244
Cross	DFFA	O00273	Dffb	Mus musculus	O54788	Peptide Array	22727028

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DFFA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7814	DFF45/ICAD Protein, Human (His)	AAH07721.1 (M1-T331)	≥95%
HY-P700499	DFFA Protein, Human (GST)	O00273 (M1-T331)	≥95%

Related Diseases

Diseases

Alias

Basilar Artery Occlusion

Vertebral Artery Occlusion

Occlusion And Stenosis Of Vertebral Artery

Vertebrobasilar Insufficiency

Vertebro-Basilar Insufficiency	Vertebrobasilar Arterial Insufficiency
Vertebrobasilar Artery Syndrome

Horner'S Syndrome

Horner Syndrome	Bernard-Horner Syndrome
Oculosympathetic Palsy	Bernard Horner Syndrome
Cervical Sympathetic Paralysis	Von Passow Syndrome
Cervical Sympathetic Dystrophy

Vertebral Artery Insufficiency

Vertebral Artery Syndrome

Chronic Dacryocystitis

Moyamoya Disease 1

Moyamoya Disease	Spontaneous Occlusion Of The Circle Of Willis
Mymy	Progressive Intracranial Arterial Occlusion
Moyamoya Syndrome	MYMY1
Cerebrovascular Moyamoya Disease	Moya-Moya Disease
Progressive Intracranial Occlusive Arteropathy	Idiopathic Moyamoya Disease

Occlusion Precerebral Artery

Occlusion And Stenosis Of Multiple And Bilateral Precerebral Arteries

Occlusion And Stenosis Of Precerebral Artery

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03708	DFFA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DFFA	MGD	MGI:1196227
Rattus norvegicus	DFFA	RGD	RGD:620334
Macaca mulatta	DFFA	VGNC	VGNC:71771
Others	DFFA	NCBI

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