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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
Location 14q24.2      Physical location : 73.136.659 - 73.360.809
Synonym name
  • neuro D4, zinc finger-like structural motif 2
  • cer-d4 homolog
  • zinc finger protein DPF3
  • BRG1-associated factor 45C
  • zinc finger protein cer-d4
    • Synonym symbol(s) CERD4, FLJ14079, ND4ZNF2, 2810403B03Rik, BAF45C, SMARCG3
    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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2271 - 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)
    • 11 splicing 11413 - 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)
    • 11 - 4199 - 367 - 2021 34390653
    10 - 4513 - 412 - 2021 34390653
    EXPRESSION
    Rna function restricted to heart and skeletal muscle
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Nervousbrainhindbraincerebellum   Homo sapiens
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac highly Homo sapiens
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    Nervousoptic nerve Homo sapiens
    Visualcone photoreceptor Homo sapiens
    Visualrod 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    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
    cancerbrainglioma/neuroblstoma
    DPF3a is a potential therapeutic targets for glioblastoma
    ANIMAL & CELL MODELS