Human Gene DPPA3 (ENST00000345088.3) from GENCODE V44
Description: Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. (from RefSeq NM_199286) RefSeq Summary (NM_199286): This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000345088.3 Gencode Gene: ENSG00000187569.3 Transcript (Including UTRs) Position: hg38 chr12:7,711,433-7,717,559 Size: 6,127 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr12:7,711,571-7,717,077 Size: 5,507 Coding Exon Count: 4
ID:DPPA3_HUMAN DESCRIPTION: RecName: Full=Developmental pluripotency-associated protein 3; AltName: Full=Stella-related protein; FUNCTION: Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark. Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis. May be important for the totipotent/pluripotent states continuing through preimplantation development. Also involved in chromatin condensation in oocytogenesis (By similarity). SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly localizes in the female pronucleus, localization to the male pronucleus in much weaker (By similarity). TISSUE SPECIFICITY: Low expression in testis, ovary and thymus. Expressed in embryonic stem and carcinoma cells. Highly expressed in testicular germ cell tumors. DEVELOPMENTAL STAGE: Expressed in fetal ovary. DOMAIN: Mediates binding to H3K9me2 via N-terminal region, while ability to exclude TET3 from the maternal pronucleus requires the C-terminal part (By similarity).
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q6W0C5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0006325 chromatin organization GO:0007275 multicellular organism development GO:0044726 protection of DNA demethylation of female pronucleus GO:1901536 negative regulation of DNA demethylation GO:2000653 regulation of genetic imprinting