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FLASH GENE
Symbol DPPA3 contributors: mct - updated : 13-07-2017
HGNC name developmental pluripotency associated 3
HGNC id 19199
Location 12p13.31      Physical location : 7.864.088 - 7.870.150
Synonym name stella-related protein
Synonym symbol(s) STELLA, PGC7, STELLAR
DNA
TYPE anonymous DNA segment
STRUCTURE 6.11 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1079 - 159 - 2013 23457636
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivegerm cell
cell lineage
cell lines germ cell tumor cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • putative bipartite nuclear localizing signal
  • putative nuclear export signal
  • HOMOLOGY
    interspecies ortholog to murine Dppa3
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • playing a role in maintaining cell pluripotentiality
  • maternal factor essential for early development, protects the DNA methylation state of several imprinted loci and epigenetic asymmetry
  • playing an indispensable role for the maintenance of methylation involved in epigenetic reprogramming after fertilization
  • might play an important role in the development of primordial germ cells and oocytes
  • is required for the maintenance of DNA methylation in early embryogenesis, and protects 5-methylcytosine (5mC) from conversion to 5-hydroxymethylcytosine (5hmC) in the maternal genome
  • imprinted loci that are marked with H3K9me2 in mature sperm are protected by DPPA3 binding in early embryogenesis
  • protects methylated DNA by binding to chromatin regions containing H3K9me2
  • regulatory function of DPPA3 in global DNA demethylation during early embryonic development
  • role for DPPA3 in facilitating germline and endodermal differentiation of human ES cells
  • maternal factor required for the maintenance of DNA methylation in early embryos
  • is likely involved in ensuring activation of endogenous retroviruses (ERVs), which themselves play a potentially key role during early development, either directly or through influencing embryonic gene expression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to Ran binding protein 5 (RANBP5, a nuclear transport shuttle protein)
  • DPPA3 strongly binds in the maternal pronucleus is H3K9me2-containing chromatin
  • tight binding of TET3 to chromatin was inhibited by intranuclear DPPA3 through its binding to H3K9me2-containing chromatin
  • DPPA3 as a direct downstream target of TBX3
  • DPPA3 controls the expression of DAXX and ensures chromatin reorganization in early embryos
  • MAD2L2 promotes open chromatin in embryonic stem cells and derepresses the DPPA3 Locus
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    loss of maternal DPPA3 results in widespread transcriptional mis-regulation and a partial failure of maternal-to-zygotic transition (MZT)
    tumoral     --over  
    enhanced the metastatic ability of B16 melanoma cells, presumably through the induction of metastasis-related genes
    constitutional       loss of function
    led to developmental arrest at the preimplantation stage, accompanied by frequent chromosome segregation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Stella-null embryos exhibited impaired CF and reduced expression of the reverse strand of major satellite repeats