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FLASH GENE

Symbol

DPF3

contributors: mct - updated : 13-10-2021

HGNC name	D4, zinc and double PHD fingers, family 3
HGNC id	17427

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	285.07 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	downstream target of Mef2a

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012074 10 - 2271 NP_036206 - 357 restricted to the myocardial compartment of the heart 2021 34390653 C-terminal double PHD is truncated in DPF3a is involved in various protein-protein interactions and it is subject to phosphorylation spontaneously tends to orderly aggregate into amyloid fibrils (PMID: 34337219) phosphorylation of DPF3a induces cardiac hypertrophy through releasing HEY repressors from DNA (PMID: 26582913) NM_001280542 11 splicing 11413 NP_001267471 - 378 - 2021 34390653 also called DPF3b differ at the C terminus such that DPF3a encodes a 357-amino-acid protein containing a single truncated PHD finger, while DPF3b consists of 378 amino acids and a double PHD finger pecific binding to acetylated lysines on histone 3 and 4 (H3K14ac, H3K9ac, H4K5ac, H4K8ac, H4K12ac, H4K16ac) besides binding to mono- and dimethylated Lys 4 on histone 3 (H3K4me1/2) binds to acetylated and methylated lysine residues of histones (PMID: 26582913) NM_001280543 11 - 4199 NP_001267472 - 367 - 2021 34390653 NM_001280544 10 - 4513 NP_001267473 - 412 - 2021 34390653

EXPRESSION

Rna function	restricted to heart and skeletal muscle
Type	restricted

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 Cardiovascular heart         Homo sapiens Nervous brain hindbrain cerebellum     Homo sapiens Visual eye retina     highly Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous optic nerve Homo sapiens Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal 2/3 domain unique to this protein family, a highly-conserved N-terminal 84-AA region (designated "CT1") can function as an efficient dominant-negative mutant of the entire d4-family proteins
	a double PHD finger, interacting with acetylated as well as methylated histone tail residues, namely acetylated lysines on histones 3 and 4
	a C2H2-type zinc finger
	a C-terminal PHD zinc finger

HOMOLOGY

interspecies

homolog to murine Cerd4

intraspecies

homolog to NEUROD4

Homologene

FAMILY

requiem/d4 family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm

basic FUNCTION	may be having an important role in developing neurons by participating in regulation of cell survival, possibly as a neurospecific transcription factor
	is an important regulator of gene expression that acts through nucleosome repositioning
	potentially serves as an anchor between the BAF complex and modified histones
	DPF3 is a brown fat-selective component of the BAF complex that was required for brown fat gene programming and mitochondrial function
	DPF1, DPF2, DPF3 function as adaptor proteins linking NFKB1 with the SWI/SNF complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associated with the BAF chromatin remodeling complex and binds methylated and acetylated lysine residues of histone 3 and
	interaction with SMARCD3
	DPF3 is a direct transcriptional target of EBF2 in brown adipocytes, thereby establishing a regulatory module through which EBF2 activates and also recruits DPF3-anchored BAF complexes to chromatin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in the right ventricular myocardium of patients with Tetralogy of Fallot (TOF) tumoral       loss of function significantly downregulated in breast cancer tissues

Susceptibility

to breast cancer development to renal cell carcinoma (RCC)

Variant & Polymorphism other	Polymorphisms in the 5' region of DPF3 were associated with increased risk of breast cancer development, lymph node metastases, age of onset, and tumor size in women of European ancestry
	rs4903064, located in an intron of DPF3, rs4903064-C RCC risk allele creates a HIF-binding site and would be predicted to enhance gene expression, whereas the rs4903064-T protective allele is predicted to increase the affinity for the IRX2/IRX5 binding, which represses DPF3 transcription

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast downregulation of DPF3 plays an indispensable function in the progression of breast cancer, and may be served as a novel therapeutic target to therapy breast cancer cancer brain glioma/neuroblstoma DPF3a is a potential therapeutic targets for glioblastoma

ANIMAL & CELL MODELS