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 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:7,711,433-7,717,559)mRNA (may differ from genome)Protein (159 aa)
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OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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).

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.42 RPKM in Testis
Total median expression: 0.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.00138-0.254 Picture PostScript Text
3' UTR -82.50482-0.171 Picture PostScript Text

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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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0035064 methylated histone binding

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

Cellular Component:
GO:0001939 female pronucleus
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0001940 male pronucleus


-  Descriptions from all associated GenBank mRNAs
  BC160067 - Synthetic construct Homo sapiens clone IMAGE:100064003, MGC:193182 developmental pluripotency associated 3 (DPPA3) mRNA, encodes complete protein.
AY317075 - Homo sapiens STELLA mRNA, complete cds.
JD546796 - Sequence 527820 from Patent EP1572962.
JD183804 - Sequence 164828 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DPPA3_HUMAN, ENST00000345088.1, ENST00000345088.2, NM_199286, Q0P5U3, Q6JZS6, Q6W0C5, STELLAR, uc001qtf.1, uc001qtf.2, uc001qtf.3, uc001qtf.4, uc001qtf.5
UCSC ID: ENST00000345088.3
RefSeq Accession: NM_199286
Protein: Q6W0C5 (aka DPPA3_HUMAN)
CCDS: CCDS8582.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.