Peg10 paternally expressed 10 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Peg10provided by MGI
Official Full Name: paternally expressed 10provided by MGI
Primary source: MGI:MGI:2157785
See related: Ensembl:ENSMUSG00000092035 AllianceGenome:MGI:2157785
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Edr; HB-1; Mar2; Rtl2; MEF3L; Mart2; MyEF-3; MmPEG10
Summary: This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation, apoptosis and cancer development. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. [provided by RefSeq, Oct 2014]
Expression: Biased expression in placenta adult (RPKM 384.9), adrenal adult (RPKM 56.4) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A1; 6 1.81 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (4747306..4760517)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (4747306..4760517)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PEG10 amplification at 7q21.3 potentiates large-cell transformation in cutaneous T-cell lymphoma.
Title: PEG10 amplification at 7q21.3 potentiates large-cell transformation in cutaneous T-cell lymphoma.
PEG10 viral aspartic protease domain is essential for the maintenance of fetal capillary structure in the mouse placenta.
Title: PEG10 viral aspartic protease domain is essential for the maintenance of fetal capillary structure in the mouse placenta.
Mammalian retrovirus-like protein PEG10 packages its own mRNA and can be pseudotyped for mRNA delivery.
Title: Mammalian retrovirus-like protein PEG10 packages its own mRNA and can be pseudotyped for mRNA delivery.
LncRNA PEG10 aggravates cardiac hypertrophy through regulating HOXA9.
Title: LncRNA PEG10 aggravates cardiac hypertrophy through regulating HOXA9.
Expression of Hbegf was reduced in PEG10-deficient trophoblast stem cells (TSCs) suggesting that PEG10 might bind to and stabilize RNAs that are critical for normal placental development
Title: The Gag protein PEG10 binds to RNA and regulates trophoblast stem cell lineage specification.
Loss of DNA methylation at the Peg10 imprinted gDMD associated with decreased embryonic viability and decreased labyrinthine volume.
Title: Partial Loss of Genomic Imprinting Reveals Important Roles for Kcnq1 and Peg10 Imprinted Domains in Placental Development.
Knockdown of Syncytin-A demonstrated a functional regulation of cell-cell fusion, where knockdown of Peg10 showed no involvement in cell fusion
Title: Regulation of murine placentogenesis by the retroviral genes Syncytin-A, Syncytin-B and Peg10.
Characterization of a RNA pseudoknot as a frameshift signal for Edr programmed -1 ribosomal frameshifting.
Title: Characterization of the frameshift signal of Edr, a mammalian example of programmed -1 ribosomal frameshifting.
It is a retrotransposon-derived imprinted gene and plays a essential role in placental formation.(review)
Title: [Origin of viviparity and genomic imprinting in mammals: a view from a retrotransposon-derived imprinted gene PEG10].
Peg10 gene is imprinted, with preferential expression from the paternal allele, and its deletion results in early embryonic lethality.
Title: Deletion of Peg10, an imprinted gene acquired from a retrotransposon, causes early embryonic lethality.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Peg10 (e-PCR), detects polymorphism
- UniSTS:516452

NoName (e-PCR)
- UniSTS:489595

Peg10 (e-PCR), detects polymorphism
- UniSTS:532151

Peg10 (e-PCR), detects polymorphism
- UniSTS:502711

RH125750 (e-PCR)
- UniSTS:162504

Peg10 (e-PCR), detects polymorphism
- UniSTS:479194

PMC197179P1 (e-PCR)
- UniSTS:271847

PMC60235P1 (e-PCR)
- UniSTS:273401

Homology

Orthologs from Annotation Pipeline: 186 organisms have orthologs with human gene Peg10
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle-mediated intercellular transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in extracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: retrotransposon-derived protein PEG10

Names: MEF3-like protein 1; MyEF-3 like; embryonal carcinoma differentiation regulated protein; mammalian retrotransposon-derived protein 2; myelin expression factor 3; myelin expression factor 3-like protein 1; paternally expressed gene 10 protein; retrotransposon gag domain-containing protein 3; retrotransposon-derived gag-like polyprotein; ty3/Gypsy-like 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.

mRNA and Protein(s)

NM_001040611.1 → NP_001035701.1 retrotransposon-derived protein PEG10 isoform 2

See identical proteins and their annotated locations for NP_001035701.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has two overlapping open reading frames (RFI and RF2). This isoform (2) produced from RF1 in the absence of -1 translational frameshifting has a shorter C-terminus compared to isoform 1.

Source sequence(s)

AB091827, AC084315, BC094558, CF735227, CJ127881

Consensus CDS

CCDS57407.1

UniProtKB/Swiss-Prot

Q7TN75

Related

ENSMUSP00000134963.2, ENSMUST00000176204.8

Conserved Domains (1) summary

pfam03732
Location:174 → 267

Retrotrans_gag; Retrotransposon gag protein
NM_130877.2 → NP_570947.2 retrotransposon-derived protein PEG10 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has two overlapping open reading frames (RFI and RF2). This longer isoform (1) is derived from RF1/RF2 by -1 translational frameshifting.

Source sequence(s)

AB091827, AC084315, BC094558, CF735227, CJ127881

UniProtKB/Swiss-Prot

Q7TN75

Conserved Domains (2) summary

cd00303
Location:416 → 500

retropepsin_like; Retropepsins; pepsin-like aspartate proteases

pfam03732
Location:174 → 267

Retrotrans_gag; Retrotransposon gag protein