DFFA - DNA fragmentation factor subunit alpha Gene

Also Known as DFF1; ICAD; DFF-45

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1676

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P700499	DFFA Protein, Human (GST)	O00273 (M1-T331, R291W)	≥ 90%, as determined by reducing SDS-PAGE.

DFFA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82517	ICAD Antibody (YA2262)	WB, IHC-P, ICC/IF, IP, FC	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03708	DFFA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18032	Dffa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24506	Dffa Rat Pre-designed siRNA Set A	Pre-designed Set	/	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