PEG10 paternally expressed 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PEG10provided by HGNC
Official Full Name: paternally expressed 10provided by HGNC
Primary source: HGNC:HGNC:14005
See related: Ensembl:ENSG00000242265 MIM:609810; AllianceGenome:HGNC:14005
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: EDR; HB-1; Mar2; RTL2; MEF3L; Mart2; RGAG3; SIRH1
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 and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]
Expression: Biased expression in placenta (RPKM 304.5), adrenal (RPKM 114.1) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (94656325..94669695)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (95892249..95905573)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (94285637..94299007)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GPC3 and PEG10 peptides associated with placental gp96 elicit specific T cell immunity against hepatocellular carcinoma.
Title: GPC3 and PEG10 peptides associated with placental gp96 elicit specific T cell immunity against hepatocellular carcinoma.
Paternal Expressed Gene 10 (PEG10) is decreased in early-onset preeclampsia.
Title: Paternal Expressed Gene 10 (PEG10) is decreased in early-onset preeclampsia.
UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain neuronal health in ALS.
Title: UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain neuronal health in ALS.
LncRNA NALT1 promotes colorectal cancer progression via targeting PEG10 by sponging microRNA-574-5p.
Title: LncRNA NALT1 promotes colorectal cancer progression via targeting PEG10 by sponging microRNA-574-5p.
Folate deficiency disturbs PEG10 methylation modifications in human spina bifida.
Title: Folate deficiency disturbs PEG10 methylation modifications in human spina bifida.
Transcriptional regulator CTR9 promotes hepatocellular carcinoma progression and metastasis via increasing PEG10 transcriptional activity.
Title: Transcriptional regulator CTR9 promotes hepatocellular carcinoma progression and metastasis via increasing PEG10 transcriptional activity.
CRISPR activation screen identifies TGFbeta-associated PEG10 as a crucial tumor suppressor in Ewing sarcoma.
Title: CRISPR activation screen identifies TGFβ-associated PEG10 as a crucial tumor suppressor in Ewing sarcoma.
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.
Circ_0075804 promotes the malignant behaviors of retinoblastoma cells by binding to miR-138-5p to induce PEG10 expression.
Title: Circ_0075804 promotes the malignant behaviors of retinoblastoma cells by binding to miR-138-5p to induce PEG10 expression.
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Title: Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-08-22) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-08-22) ClinGen Genome Curation Page

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

WI-20034 (e-PCR)
- UniSTS:23610

PEG10_8006 (e-PCR)
- UniSTS:467823

NoName (e-PCR)
- UniSTS:481964

WI-12157 (e-PCR)
- UniSTS:83417

STS-H51766 (e-PCR)
- UniSTS:1756

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables mRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated intercellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in viral translational frameshifting	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: retrotransposon-derived protein PEG10

Names: MEF3 like 1; Sushi-Ichi retrotransposon homolog 1; embryonal carcinoma differentiation regulated; mammalian retrotransposon-derived 2; mammalian retrotransposon-derived protein 2; myelin expression factor 3-like protein 1; paternally expressed gene 10 protein; retrotransposon Gag like 2; 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.

Genomic

NG_011340.1 RefSeqGene

Range

5001..18371

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1097

mRNA and Protein(s)

NM_001040152.2 → NP_001035242.1 retrotransposon-derived protein PEG10 isoform 2

See identical proteins and their annotated locations for NP_001035242.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has two overlapping open reading frames (RF1 and RF2) and two in-frame translation initiation codons: an upstream non-AUG (CUG) and a downstream AUG. This isoform (2) produced from RF1 in the absence of -1 translational frameshifting, and use of downstream AUG start codon has a shorter C-terminus compared to isoform 1.

Source sequence(s)

AB049150, AC069292, AF216076, BP250746, DA683494

Consensus CDS

CCDS55126.1

UniProtKB/Swiss-Prot

Q86TG7

Related

ENSP00000417587.1, ENST00000482108.1

Conserved Domains (3) summary

pfam17078
Location:3 → 49

SHE3; SWI5-dependent HO expression protein 3

pfam03732
Location:119 → 212

Retrotrans_gag; Retrotransposon gag protein

pfam16297
Location:78 → 158

DUF4939; Domain of unknown function (DUF4939)
NM_001172437.2 → NP_001165908.1 retrotransposon-derived protein PEG10 isoform 3

See identical proteins and their annotated locations for NP_001165908.1

Status: REVIEWED

Source sequence(s)

AF216076, AK299837, BP250746, DA297295, DA683494

UniProtKB/TrEMBL

A0A087WX23

Conserved Domains (4) summary

cd00303
Location:441 → 525

retropepsin_like; Retropepsins; pepsin-like aspartate proteases

smart00338
Location:79 → 125

BRLZ; basic region leucin zipper

pfam03732
Location:195 → 288

Retrotrans_gag; Retrotransposon gag protein

pfam16297
Location:154 → 234

DUF4939; Domain of unknown function (DUF4939)
NM_001172438.3 → NP_001165909.1 retrotransposon-derived protein PEG10 isoform 4

See identical proteins and their annotated locations for NP_001165909.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has two overlapping open reading frames (RF1 and RF2). It uses an alternate donor splice site at the 5' terminal exon and initiates translation from an alternate, upstream AUG compared to variant 1. This isoform (4) produced from RF1 in the absence of -1 translational frameshifting has a longer and distinct N-terminus, but a shorter C-terminus compared to isoform 1.

Source sequence(s)

AF216076, AK299837, DA297295, DA683494

Consensus CDS

CCDS75636.1

UniProtKB/TrEMBL

B4DSP0

Related

ENSP00000418944.2, ENST00000488574.5

Conserved Domains (3) summary

pfam03732
Location:195 → 288

Retrotrans_gag; Retrotransposon gag protein

pfam06785
Location:83 → 133

UPF0242; Uncharacterized protein family (UPF0242)

cl29674
Location:153 → 234

Retrotrans_gag; Retrotransposon gag protein
NM_001184961.1 → NP_001171890.1 retrotransposon-derived protein PEG10 isoform 5

See identical proteins and their annotated locations for NP_001171890.1

Status: REVIEWED

Source sequence(s)

AB049150, AC069292, AF216076, BP250746, DA683494

UniProtKB/TrEMBL

A0A087WUL4

Conserved Domains (4) summary

cd00303
Location:399 → 483

retropepsin_like; Retropepsins; pepsin-like aspartate proteases

smart00338
Location:37 → 83

BRLZ; basic region leucin zipper

pfam03732
Location:153 → 246

Retrotrans_gag; Retrotransposon gag protein

pfam16297
Location:112 → 192

DUF4939; Domain of unknown function (DUF4939)
NM_001184962.2 → NP_001171891.1 retrotransposon-derived protein PEG10 isoform 6

See identical proteins and their annotated locations for NP_001171891.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has two overlapping open reading frames (RF1 and RF2) and two in-frame translation initiation codons: an upstream non-AUG (CUG) and a downstream AUG. This isoform (6) produced from RF1 in the absence of -1 translational frameshifting, and use of upstream non-AUG (CUG) start codon has a longer N-terminus, but a shorter C-terminus compared to isoform 1.

Source sequence(s)

AB049150, AC069292, AF216076, BP250746, DA683494

Consensus CDS

CCDS75637.1

UniProtKB/TrEMBL

A0A087WZG9

Related

ENSP00000482653.2, ENST00000615790.5

Conserved Domains (3) summary

pfam03732
Location:153 → 246

Retrotrans_gag; Retrotransposon gag protein

pfam16297
Location:112 → 192

DUF4939; Domain of unknown function (DUF4939)

cl21462
Location:45 → 82

bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
NM_015068.3 → NP_055883.2 retrotransposon-derived protein PEG10 isoform 1

See identical proteins and their annotated locations for NP_055883.2

Status: REVIEWED

Source sequence(s)

AB049150, AC069292, AF216076, BP250746, DA683494

UniProtKB/Swiss-Prot

B4DSP0, Q86TG7, Q96A68, Q9UPV1

UniProtKB/TrEMBL

A0A087WXK2

Conserved Domains (4) summary

cd00303
Location:365 → 449

retropepsin_like; Retropepsins; pepsin-like aspartate proteases

smart00338
Location:3 → 49

BRLZ; basic region leucin zipper

pfam03732
Location:119 → 212

Retrotrans_gag; Retrotransposon gag protein

pfam16297
Location:78 → 158

DUF4939; Domain of unknown function (DUF4939)