DPPA3 developmental pluripotency associated 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPPA3provided by HGNC
Official Full Name: developmental pluripotency associated 3provided by HGNC
Primary source: HGNC:HGNC:19199
See related: Ensembl:ENSG00000187569 MIM:608408; AllianceGenome:HGNC:19199
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Pgc7; STELLA
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (7711433..7717559)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (7726072..7732205)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (7864029..7870155)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structure of human DPPA3 bound to the UHRF1 PHD finger reveals its functional and structural differences from mouse DPPA3.
Title: Structure of human DPPA3 bound to the UHRF1 PHD finger reveals its functional and structural differences from mouse DPPA3.
Stella employs a multilayered mechanism to achieve robust UHRF1 inhibition, which involves the dissociation from chromatin and cytoplasmic sequestration of UHRF1.
Title: Stella protein facilitates DNA demethylation by disrupting the chromatin association of the RING finger-type E3 ubiquitin ligase UHRF1.
Super-enhancers at the Nanog locus differentially regulate neighboring pluripotency-associated genes, in particular, DPPA3.
Title: Super-Enhancers at the Nanog Locus Differentially Regulate Neighboring Pluripotency-Associated Genes.
We conclude that heterogeneous population of the HEK293T cells might be easily shifted towards expression of the pluripotency markers by ectopic expression of the SON factors or by growth in serum depleted media.
Title: Pluripotency induction in HEK293T cells by concurrent expression of STELLA, OCT4 and NANOS2.
Data suggest enforced expression of Stella into normal cells induces not only global DNA demethylation but also neoplastic transformation and increases metastatic ability; these changes involve altered regulation of neoplastic gene expression.
Title: Global DNA hypomethylation coupled to cellular transformation and metastatic ability.
Considering that impaired DNA methylation profiles are associated with various developmental or disease phenomena, Stella may be a powerful tool with which to study the biological effects of global DNA hypomethylation
Title: Inhibition of maintenance DNA methylation by Stella.
a role for STELLA in facilitating germline and endodermal differentiation of human ES cells
Title: STELLA facilitates differentiation of germ cell and endodermal lineages of human embryonic stem cells.
These results demonstrate that PGC7/Stella is indispensable for the maintenance of methylation involved in epigenetic reprogramming after fertilization.
Title: PGC7/Stella protects against DNA demethylation in early embryogenesis.
human adult tissue-specific transcripts originate via retrotransposition of the pluripotent cell-specific gene, Dppa3
Title: Adult tissue-specific expression of a Dppa3-derived retrogene represents a postnatal transcript of pluripotent cell origin.
In mice, this gene may play a role in oogenesis and primordial germ cell development.
Title: Identification of PGC7, a new gene expressed specifically in preimplantation embryos and germ cells.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-143913 (e-PCR)
- UniSTS:182552

NoName (e-PCR)
- UniSTS:489030

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables methylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in epigenetic programing of female pronucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in epigenetic programing of female pronucleus	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in female pronucleus	ISS Inferred from Sequence or Structural Similarity more info
NOT located_in male pronucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: developmental pluripotency-associated protein 3

Names: stella-related protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.