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FLASH GENE

Symbol

DPPA3

contributors: mct - updated : 13-07-2017

HGNC name	developmental pluripotency associated 3
HGNC id	19199

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_199286 4 - 1079 NP_954980 - 159 - 2013 23457636

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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