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FLASH GENE

Symbol

DFFA

contributors: mct/npt - updated : 19/09/2008

HGNC name	DNA fragmentation factor, 45kDa, alpha polypeptide
HGNC id	2772

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p36.3-p36.2      Physical location : 10.520.604 - 10.532.613
Synonym name	inhibitor of caspase-activated deoxyribonuclease
	DNA fragmentation factor, 45 kD, alpha subunit
Synonym symbol(s)	DFF1, DFF45, ICAD, DFF-45

DNA

TYPE	breakpoint
STRUCTURE	12.02 kb     6 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
motif
text structure	a 106-bp TATA-less region upstream of the transcription start site as a basal promoter
	an E-Box motif, which binds transcription factors of the basic helix-loop-helix/leucine zipper family, is responsible for transcriptional activity

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

close to CASP9

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed DFF45, or variant 1 6 - 2053 36 331 - Gu, Omata (2008) DFF35 or variant 2 5 splicing 3408 - 268 ubiquitous Gu, Omata (2008) not acting as a chaperone inhibitor of DFF40/(DFFB)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Lymphoid/Immune tonsils       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

regulatory CIDE-N domain (cell death inducing DFFA-like effector)

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to Drosophila Drep1

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	inhibitor necessary for DFFB stabilization in an inactive state in living cells
	apoptotic DNA fragmentation factor is required for the maintenance of genetic stability and may play a role in tumor suppression

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

intracellular signaling cascade

a component

alpha subunit heterodimerizing with a 40kDa subunit (DFFB)

INTERACTION

DNA

RNA

small molecule

protein	DFF-B
	with BCR (PCAF and BCR signalling are essential for apoptotic cell death (PCAF and BCR signalling control cooperatively pre-mature B cell apoptosis via both depletions of DFFA and BIRC2)

cell & other

REGULATION

activated by

caspase-3 during apoptosis (cleavage by CASP3)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in low stage neuroblastoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS